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Photosensitivity(PPR)

MedGen UID:
87601
Concept ID:
C0349506
Finding; Pathologic Function
Synonyms: Photosensitization
SNOMED CT: Photosensitivity of skin (90128006); Photosensitivity (90128006)
 
OMIM®: 132100; 609569
HPO: HP:0000992

Definition

increased sensitivity of the skin to light and other sources of UV [from CHV]

Conditions with this feature

Bloom syndrome
MedGen UID:
2685
Concept ID:
C0005859
Congenital Abnormality
Bloom’s syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, sparseness of subcutaneous fat tissue throughout infancy and early childhood, and short stature throughout postnatal life that in most affected individuals is accompanied by an erythematous and sun-sensitive skin lesion of the face. Gastroesophageal reflux (GER) is common and very possibly responsible for infections of the upper respiratory tract, the middle ear, and the lung that occur repeatedly in most persons with BSyn. Although most affected individuals have normal intellectual ability, many exhibit a poorly defined learning disability. Women may be fertile, but menopause occurs unusually early; men are infertile. Serious medical complications that are much more common than in the general population and that also appear at unusually early ages are chronic obstructive pulmonary disease, diabetes mellitus resembling the adult-onset type, and cancer of a wide variety of types and anatomic sites. BSyn occurs rarely in all national and ethnic groups but is relatively less rare in Ashkenazi Jews.
Neutral 1 amino acid transport defect
MedGen UID:
6723
Concept ID:
C0018609
Disease or Syndrome
Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet. As a result, affected individuals are not able to use these amino acids to produce other substances, such as vitamins and proteins. Most people with Hartnup disease are able to get the vitamins and other substances they need with a well-balanced diet.People with Hartnup disease have high levels of various amino acids in their urine (aminoaciduria). For most affected individuals, this is the only sign of the condition. However, some people with Hartnup disease have episodes during which they exhibit other signs, which can include skin rashes; difficulty coordinating movements (cerebellar ataxia); and psychiatric symptoms, such as depression or psychosis. These episodes are typically temporary and are often triggered by illness, stress, nutrient-poor diet, or fever. These features tend to go away once the trigger is remedied, although the aminoaciduria remains. In affected individuals, signs and symptoms most commonly occur in childhood.
Systemic lupus erythematosus
MedGen UID:
6146
Concept ID:
C0024141
Disease or Syndrome
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Rothmund-Thomson syndrome
MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectasias, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.
Prader-Willi syndrome
MedGen UID:
46057
Concept ID:
C0032897
Congenital Abnormality
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present.
Congenital erythropoietic porphyria
MedGen UID:
102408
Concept ID:
C0162530
Disease or Syndrome
Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink to dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and mild bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from non-immune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.
Hereditary coproporphyria
MedGen UID:
57931
Concept ID:
C0162531
Disease or Syndrome
Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individuals, the pain is predominantly in the back or extremities. When an acute attack is untreated, a motor neuropathy may develop over a period of days or a few weeks. The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet. Some individuals experience respiratory insufficiency due to loss of innervation of the diaphragm and muscles of respiration. Acute attacks are associated commonly with use of certain medications, caloric deprivation, and changes in female reproductive hormones. About 20% of those with an acute attack also experience photosensitivity associated with bullae and skin fragility.
Variegate porphyria
MedGen UID:
58118
Concept ID:
C0162532
Disease or Syndrome
Variegate porphyria (VP) is a cutaneous porphyria (with chronic blistering skin lesions) and an acute porphyria (with severe episodic neurovisceral symptoms). The most common manifestation of VP is adult-onset cutaneous blistering lesions (subepidermal vesicles, bullae, and erosions that crust over and heal slowly) of sun-exposed skin, especially the hands and face. Other chronic skin findings include milia, scarring, thickening, and areas of decreased and increased skin pigmentation. Facial hyperpigmentation and hypertrichosis may occur. Cutaneous manifestations may improve in winter, and be less prevalent in northern regions and in dark-skinned individuals. Acute neurovisceral symptoms can occur any time after puberty, but less often in the elderly. Acute manifestations are highly variable, but may be similar from episode to episode in a patient with recurrent attacks; not all symptoms are present in a single episode; and acute symptoms may become chronic. Symptoms are more common in women than men. The most common symptoms are abdominal pain; constipation; pain in the back, chest, and extremities; anxiety; seizures; and a primarily motor neuropathy resulting in muscle weakness that may progress to quadriparesis and respiratory paralysis. Psychiatric disturbances and autonomic neuropathy can also be observed. Acute attacks may be severe and are potentially fatal.
Hepatoerythropoietic porphyria
MedGen UID:
57940
Concept ID:
C0162569
Disease or Syndrome
Hepatoerythropoietic porphyria (HEP) is characterized by (1) blistering skin lesions, hypertrichosis, and scarring over the affected skin areas; and (2) no increased risk for hepatocellular carcinoma (HCC). Disease manifestations occur during infancy or childhood and with similar frequency in girls and boys.
Dubowitz syndrome
MedGen UID:
59797
Concept ID:
C0175691
Congenital Abnormality
A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. The phenotype varies from normal growth and head circumference with mild psychomotor retardation and lack of eczema to severe growth and mental retardation, microcephaly, behavioral problems, aplastic anemia, immunological disorders, neoplasms, and eczema Some features of this syndrome are similar to those in Bloom and fetal alcohol syndromes.
Smith-Lemli-Opitz syndrome
MedGen UID:
61231
Concept ID:
C0175694
Disease or Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth retardation, microcephaly, moderate to severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide and individuals have been described with normal development and only minor malformations.
DE SANCTIS-CACCHIONE SYNDROME
MedGen UID:
75550
Concept ID:
C0265201
Congenital Abnormality
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
Erythrokeratodermia variabilis
MedGen UID:
75587
Concept ID:
C0265961
Congenital Abnormality
The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Patients with erythrokeratodermia variabilis due to mutation in the GJA1 gene have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by Boyden et al., 2015).
Xeroderma pigmentosum, type 1
MedGen UID:
82775
Concept ID:
C0268135
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Xeroderma pigmentosum, group D
MedGen UID:
75656
Concept ID:
C0268138
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Xeroderma pigmentosum, group F
MedGen UID:
120612
Concept ID:
C0268140
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Xeroderma pigmentosum, group G
MedGen UID:
75657
Concept ID:
C0268141
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Familial porphyria cutanea tarda
MedGen UID:
75669
Concept ID:
C0268323
Disease or Syndrome
Type II porphyria cutanea tarda (type II PCT) is characterized by: Blistering over the dorsal aspects of the hands and other sun-exposed areas of skin, skin friability after minor trauma, facial hypertrichosis and hyperpigmentation, and severe thickening of affected skin areas (pseudoscleroderma); and An increased risk for hepatocellular carcinoma (HCC). Skin changes typically begin in the fourth or fifth decade of life. Disease manifestations are more common in men than women. Susceptibility factors (including excess hepatic iron, HFE mutations, alcohol consumption, infection with hepatitis C and/or human immunodeficiency viruses, oral estrogen use, smoking, and hepatotoxins [e.g., hexachlorobenzene]) play a significant role in development of clinical manifestations.
Porphobilinogen synthase deficiency
MedGen UID:
78659
Concept ID:
C0268328
Disease or Syndrome
ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only 5 patients (Jaffe and Stith, 2007).
Tryptophanuria with dwarfism
MedGen UID:
78680
Concept ID:
C0268473
Disease or Syndrome
Prolidase deficiency
MedGen UID:
120647
Concept ID:
C0268532
Disease or Syndrome
Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008).
Microcephaly, normal intelligence and immunodeficiency
MedGen UID:
140771
Concept ID:
C0398791
Congenital Abnormality
Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, an increased risk for cancer, and premature ovarian failure in females. Developmental milestones are attained at the usual time during the first year; however, borderline delays in development and hyperactivity may be observed in early childhood. Intellectual abilities tend to decline over time and most children tested after age seven years have mild to moderate intellectual disability. Recurrent pneumonia and bronchitis may result in respiratory failure and early death. Approximately 40% of affected individuals have developed malignancies before age 20 years, with the risk being highest for T-cell (55%) and B-cell lymphomas (45%). Other tumors include T-cell lymphoma and solid tumors (e.g., medulloblastoma, glioma, and rhabdomyosarcoma). Note, however, that much of what is reported about NBS is based on individuals who are homozygous for the single most common Eastern European pathogenic variant, 657_661del5.
Actinic prurigo
MedGen UID:
98348
Concept ID:
C0406217
Disease or Syndrome
Hereditary polymorphic light eruption is a form of photosensitivity found in the American Indians of the central plains of Canada and the United States and in the Indians of Central and South America. The disorder has also been called familial actinic prurigo, solar dermatitis, and hydroa aestivale. In northern latitudes, skin lesions appear on exposed areas early in spring, become severe during the summer, and abate in the fall. Usually the disorder appears in childhood with eczematous crusted eruptions on the face and arms. Fissured, crusted exudative cheilitis develops on the lips, especially the lower lip. The dorsum of the hands, the laterodorsal aspects of the forearms, and the lower half of the arms often show excoriated papular and nodular lesions. Children frequently have complicating pyoderma. Adults usually exhibit an erythematous plaquelike eruption on the face and other exposed areas. The disease is more severe in children than in adults. Glomerulonephritis can follow streptococcal pyoderma (summary by Fusaro and Johnson, 1980).
Kindler syndrome
MedGen UID:
96060
Concept ID:
C0406557
Congenital Abnormality
Kindler syndrome is an autosomal recessive dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling (summary by Jobard et al., 2003).
Singleton-Merten syndrome
MedGen UID:
98481
Concept ID:
C0432254
Disease or Syndrome
Cockayne syndrome type C
MedGen UID:
196713
Concept ID:
C0751037
Disease or Syndrome
Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole. If affected individuals take this medication, it can cause life-threatening liver failure.Cockayne syndrome is sometimes divided into types I, II, and III based on the severity and age of onset of symptoms. However, the differences between the types are not always clear-cut, and some researchers believe the signs and symptoms reflect a spectrum instead of distinct types. Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some researchers consider it to be a separate but similar condition, others classify it as part of the Cockayne syndrome disease spectrum.
Cockayne syndrome B
MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a phenotypic spectrum that includes: CS type I, the "classic" or “moderate” form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal syndrome (COFS) or Pena-Shokeir syndrome type II; CS type III, a milder form; Xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I (moderate CS) is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II (severe CS or early-onset CS) is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years. CS type III (mild CS or late-onset CS) is characterized by essentially normal growth and cognitive development or by late onset. Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, including intellectual disability, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS dysmyelination and calcifications.
Cockayne syndrome type A
MedGen UID:
155488
Concept ID:
C0751039
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a phenotypic spectrum that includes: CS type I, the "classic" or “moderate” form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal syndrome (COFS) or Pena-Shokeir syndrome type II; CS type III, a milder form; Xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I (moderate CS) is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II (severe CS or early-onset CS) is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years. CS type III (mild CS or late-onset CS) is characterized by essentially normal growth and cognitive development or by late onset. Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, including intellectual disability, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS dysmyelination and calcifications.
Lafora disease
MedGen UID:
155631
Concept ID:
C0751783
Disease or Syndrome
Lafora disease (LD) is characterized by fragmentary, symmetric, or generalized myoclonus and/or generalized tonic-clonic seizures, visual hallucinations (occipital seizures), and progressive neurologic degeneration including cognitive and/or behavioral deterioration, dysarthria, and ataxia beginning in previously healthy adolescents between ages 12 and 17 years. The frequency and intractability of seizures increase over time. Status epilepticus is common. Emotional disturbance and confusion are common at or soon after onset of seizures and are followed by dementia. Dysarthria and ataxia appear early, spasticity late. Most affected individuals die within ten years of onset, usually from status epilepticus or from complications related to nervous system degeneration.
Odontoonychodermal dysplasia
MedGen UID:
208666
Concept ID:
C0796093
Disease or Syndrome
A form of ectodermal dysplasia with hyperhidrosis, hyperkeratosis palmaris et plantaris, nail dystrophy, dry and sparse hair, facial erythema, peg-shaped incisors. and malformation of other teeth. Mild mental deficiency was reported in some cases. This condition is considered by some a specific form of a broad category of disorders involving dysplasia of skin appendages and teeth.
Pollitt syndrome
MedGen UID:
272036
Concept ID:
C1313961
Disease or Syndrome
Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008). Sabinas brittle hair syndrome (211390) is another form of nonphotosensitive TTD. For a discussion of genetic heterogeneity of trichothiodystrophy, see 601675.
UV-sensitive syndrome
MedGen UID:
322222
Concept ID:
C1833561
Disease or Syndrome
UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004). Genetic Heterogeneity of UV-Sensitive Syndrome See also UVSS2 (614621), caused by mutation in the ERCC8 gene (609412) on chromosome 5, and UVSS3 (614640), caused by mutation in the UVSSA gene (614632) on chromosome 4p16.
Epilepsy, idiopathic generalized 3
MedGen UID:
373335
Concept ID:
C1837468
Disease or Syndrome
Hyperkeratosis-hyperpigmentation syndrome
MedGen UID:
326735
Concept ID:
C1840428
Disease or Syndrome
Lig4 syndrome
MedGen UID:
339855
Concept ID:
C1847827
Disease or Syndrome
A very rare genetic disorder caused by mutation in the LIG4 gene. It is characterized by unusual facial features, microcephaly, growth and developmental delay, severe immunodeficiency, and skin abnormalities.
Xeroderma pigmentosum, variant type
MedGen UID:
376352
Concept ID:
C1848410
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Xeroderma pigmentosum, group E
MedGen UID:
341219
Concept ID:
C1848411
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Pancreatitis, sclerosing cholangitis, and sicca complex
MedGen UID:
340461
Concept ID:
C1850080
Disease or Syndrome
Complement component 4a deficiency
MedGen UID:
338988
Concept ID:
C1852692
Disease or Syndrome
Cerebrooculofacioskeletal syndrome 2
MedGen UID:
342799
Concept ID:
C1853102
Disease or Syndrome
Hair defect with photosensitivity and mental retardation
MedGen UID:
383868
Concept ID:
C1856241
Disease or Syndrome
Cutaneous photosensitivity and colitis, lethal
MedGen UID:
347455
Concept ID:
C1857449
Disease or Syndrome
Oculocutaneous albinism type 3
MedGen UID:
395376
Concept ID:
C1859932
Disease or Syndrome
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.Several additional types of this disorder have been proposed, each affecting one or a few families.
ADULT syndrome
MedGen UID:
400232
Concept ID:
C1863204
Disease or Syndrome
Photosensitive trichothiodystrophy
MedGen UID:
355730
Concept ID:
C1866504
Disease or Syndrome
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of Trichothiodystrophy Also see TTD2 (616390), caused by mutation in the ERCC3/XPB gene (133510); TTD3 (616395), caused by mutation in the GTF2H5 gene (608780); TTD4 (234050), caused by mutation in the MPLKIP gene (609188); TTD5 (300953), caused by mutation in the RNF113A gene (300951); and TTD6 (616943), caused by mutation in the GTF2E2 gene (189964).
Telfer Sugar Jaeger syndrome
MedGen UID:
358177
Concept ID:
C1868311
Disease or Syndrome
Xeroderma pigmentosum, complementation group b
MedGen UID:
373493
Concept ID:
C1970808
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Protoporphyria, erythropoietic, X-linked
MedGen UID:
394385
Concept ID:
C2677889
Disease or Syndrome
X-linked protoporphyria (XLP) is characterized in affected males by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness. Vesicular lesions are uncommon. Pain, which may seem out of proportion to the visible skin lesions, may persist for hours or days after the initial phototoxic reaction. Photosensitivity usually remains for life. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. An unknown proportion of individuals with XLP develop liver disease. Except for those with advanced liver disease, life expectancy is not reduced. The phenotype in heterozygous females ranges from asymptomatic to as severe as affected males.
Xeroderma pigmentosum, group C
MedGen UID:
416702
Concept ID:
C2752147
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Chilblain lupus 2
MedGen UID:
482351
Concept ID:
C3280721
Disease or Syndrome
Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by Ravenscroft et al., 2011). For a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 (610448).
UV-sensitive syndrome 2
MedGen UID:
766212
Concept ID:
C3553298
Disease or Syndrome
UV-sensitive syndrome-2 is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Nardo et al., 2009). See also Cockayne syndrome type A (CSA; 216400), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities. For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630).
UV-sensitive syndrome 3
MedGen UID:
766242
Concept ID:
C3553328
Disease or Syndrome
UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Itoh et al., 1994 and Nakazawa et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630).
Epileptic encephalopathy, childhood-onset
MedGen UID:
815608
Concept ID:
C3809278
Disease or Syndrome
Childhood-onset epileptic encephalopathy (EEOC) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability (summary by Carvill et al., 2013).
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
MedGen UID:
863113
Concept ID:
C4014676
Disease or Syndrome
Chilbain lupus 1
MedGen UID:
479249
Concept ID:
C3277619
Disease or Syndrome
Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). Genetic Heterogeneity of Chilblain Lupus See also CHBL2 (614415), caused by mutation in the SAMHD1 gene (606754) on chromosome 20q11. Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, 225750 and AGS5, 612952, respectively).

Recent clinical studies

Etiology

Viola E, Coggiola Pittoni A, Drahos A, Moretti U, Conforti A
Drug Saf 2015 Oct;38(10):889-94. doi: 10.1007/s40264-015-0323-7. PMID: 26187686
Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM
Brain 2015 May;138(Pt 5):1198-207. Epub 2015 Mar 17 doi: 10.1093/brain/awv052. [Epub ahead of print] PMID: 25783594Free PMC Article
Truong JQ, Ciuffreda KJ, Han MH, Suchoff IB
Brain Inj 2014;28(10):1283-7. Epub 2014 Jun 19 doi: 10.3109/02699052.2014.915989. [Epub ahead of print] PMID: 24945993
Esmat S, Elgendy D, Ali M, Esmat S, El-Nabarawy EA, Mahmoud SB, Shaker O
Liver Int 2014 Aug;34(7):1033-9. Epub 2014 Mar 19 doi: 10.1111/liv.12513. [Epub ahead of print] PMID: 24575939
Foering K, Chang AY, Piette EW, Cucchiara A, Okawa J, Werth VP
J Am Acad Dermatol 2013 Aug;69(2):205-13. Epub 2013 May 3 doi: 10.1016/j.jaad.2013.03.015. [Epub ahead of print] PMID: 23648190Free PMC Article

Diagnosis

Boudewijns S, Gerritsen WR, Koornstra RH
BMC Cancer 2014 Dec 17;14:967. doi: 10.1186/1471-2407-14-967. [Epub ahead of print] PMID: 25515496Free PMC Article
Dawe RS, Ibbotson SH
Dermatol Clin 2014 Jul;32(3):363-8, ix. doi: 10.1016/j.det.2014.03.014. PMID: 24891058
Esmat S, Elgendy D, Ali M, Esmat S, El-Nabarawy EA, Mahmoud SB, Shaker O
Liver Int 2014 Aug;34(7):1033-9. Epub 2014 Mar 19 doi: 10.1111/liv.12513. [Epub ahead of print] PMID: 24575939
Gómez-Bernal S, Alvarez-Pérez A, Rodríguez-Pazos L, Gutiérrez-González E, Rodríguez-Granados MT, Toribio J
Actas Dermosifiliogr 2014 May;105(4):359-66. Epub 2013 May 8 doi: 10.1016/j.ad.2013.01.010. [Epub ahead of print] PMID: 23664250
Grossberg AL
Curr Opin Pediatr 2013 Aug;25(4):474-9. doi: 10.1097/MOP.0b013e328362c2c3. PMID: 23817304

Therapy

Viola E, Coggiola Pittoni A, Drahos A, Moretti U, Conforti A
Drug Saf 2015 Oct;38(10):889-94. doi: 10.1007/s40264-015-0323-7. PMID: 26187686
Boudewijns S, Gerritsen WR, Koornstra RH
BMC Cancer 2014 Dec 17;14:967. doi: 10.1186/1471-2407-14-967. [Epub ahead of print] PMID: 25515496Free PMC Article
French JA, Krauss GL, Kasteleijn D, DiVentura BD, Bagiella E
Neurotherapeutics 2014 Apr;11(2):412-8. doi: 10.1007/s13311-013-0243-0. PMID: 24346821Free PMC Article
Gómez-Bernal S, Alvarez-Pérez A, Rodríguez-Pazos L, Gutiérrez-González E, Rodríguez-Granados MT, Toribio J
Actas Dermosifiliogr 2014 May;105(4):359-66. Epub 2013 May 8 doi: 10.1016/j.ad.2013.01.010. [Epub ahead of print] PMID: 23664250
Sugita K, Ikenouchi-Sugita A, Nakayama Y, Yoshioka H, Nomura T, Sakabe J, Nakahigashi K, Kuroda E, Uematsu S, Nakamura J, Akira S, Nakamura M, Narumiya S, Miyachi Y, Tokura Y, Kabashima K
Sci Rep 2013 Oct 17;3:2973. doi: 10.1038/srep02973. PMID: 24131900Free PMC Article

Prognosis

Egan DN, Yang Z, Phillips J, Abkowitz JL
Blood 2015 Jul 9;126(2):257-61. Epub 2015 May 13 doi: 10.1182/blood-2014-07-584664. [Epub ahead of print] PMID: 25972160Free PMC Article
Rasmussen LR, Laursen CB, Graumann O
BMJ Case Rep 2015 Feb 9;2015 doi: 10.1136/bcr-2014-205245. PMID: 25666238
Truong JQ, Ciuffreda KJ, Han MH, Suchoff IB
Brain Inj 2014;28(10):1283-7. Epub 2014 Jun 19 doi: 10.3109/02699052.2014.915989. [Epub ahead of print] PMID: 24945993
Dawe RS, Ibbotson SH
Dermatol Clin 2014 Jul;32(3):363-8, ix. doi: 10.1016/j.det.2014.03.014. PMID: 24891058
Foering K, Chang AY, Piette EW, Cucchiara A, Okawa J, Werth VP
J Am Acad Dermatol 2013 Aug;69(2):205-13. Epub 2013 May 3 doi: 10.1016/j.jaad.2013.03.015. [Epub ahead of print] PMID: 23648190Free PMC Article

Clinical prediction guides

Viola E, Coggiola Pittoni A, Drahos A, Moretti U, Conforti A
Drug Saf 2015 Oct;38(10):889-94. doi: 10.1007/s40264-015-0323-7. PMID: 26187686
Foering K, Chang AY, Piette EW, Cucchiara A, Okawa J, Werth VP
J Am Acad Dermatol 2013 Aug;69(2):205-13. Epub 2013 May 3 doi: 10.1016/j.jaad.2013.03.015. [Epub ahead of print] PMID: 23648190Free PMC Article
Kim A, Chong BF
Photodermatol Photoimmunol Photomed 2013 Feb;29(1):4-11. doi: 10.1111/phpp.12018. PMID: 23281691Free PMC Article
Haylett AK, Felton S, Denning DW, Rhodes LE
Br J Dermatol 2013 Jan;168(1):179-85. Epub 2012 Nov 20 doi: 10.1111/j.1365-2133.2012.11196.x. [Epub ahead of print] PMID: 22860570
Rizwan M, Haylett AK, Richards HL, Ling TC, Rhodes LE
Photodermatol Photoimmunol Photomed 2012 Dec;28(6):290-2. doi: 10.1111/j.1600-0781.2012.00691.x. PMID: 23126289

Recent systematic reviews

Torrente-Segarra V, Salman-Monte TC, Rúa-Figueroa Í, Pérez-Vicente S, López-Longo FJ, Galindo-Izquierdo M, Calvo-Alén J, Olivé-Marqués A, Ibañez-Ruán J, Horcada L, Sánchez-Atrio A, Montilla C, Rodríguez-Gómez M, Díez-Álvarez E, Martinez-Taboada V, Andreu JL, Fernández-Berrizbeitia O, Hernández-Beriain JA, Gantes M, Hernández-Cruz B, Pecondón-Español Á, Marras C, Bonilla G, Pego-Reigosa JM; RELESSER Study Group of the Spanish Society of Rheumatology (SER); Study Group of Systemic Autoimmune Diseases of the SER (EAS-SER)
Clin Exp Rheumatol 2016 Mar-Apr;34(2 Suppl 96):S40-7. Epub 2015 Nov 17 [Epub ahead of print] PMID: 26575317
Shi ZR, Cao CX, Tan GZ, Wang L
Lupus 2015 May;24(6):588-96. Epub 2014 Nov 17 doi: 10.1177/0961203314560003. [Epub ahead of print] PMID: 25406488
Lava SA, Simonetti GD, Ragazzi M, Guarino Gubler S, Bianchetti MG
Br J Dermatol 2013 May;168(5):1066-72. doi: 10.1111/bjd.12197. PMID: 23374016
de Kovel CG, Pinto D, Tauer U, Lorenz S, Muhle H, Leu C, Neubauer BA, Hempelmann A, Callenbach PM, Scheffer IE, Berkovic SF, Rudolf G, Striano P, Siren A, Baykan B, Sander T, Lindhout D, Kasteleijn-Nolst Trenité DG, Stephani U, Koeleman BP
Epilepsy Res 2010 May;89(2-3):286-94. Epub 2010 Feb 12 doi: 10.1016/j.eplepsyres.2010.01.013. [Epub ahead of print] PMID: 20153606
Minder EI, Schneider-Yin X, Steurer J, Bachmann LM
Cell Mol Biol (Noisy-le-grand) 2009 Feb 16;55(1):84-97. PMID: 19268006

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