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Cutis marmorata

MedGen UID:
500896
Concept ID:
CN000903
Finding
Synonyms: Livedo reticularis
 
HPO: HP:0000965

Definition

A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather. [from HPO]

Conditions with this feature

Polyarteritis nodosa
MedGen UID:
14681
Concept ID:
C0031036
Disease or Syndrome
Childhood-onset polyarteritis nodosa is an autosomal recessive systemic vascular inflammatory disorder characterized mainly by involvement of the skin, nervous system, kidney, and gastrointestinal tract. There is considerable variability in the severity and age at onset, although most patients have onset of symptoms in the first decade. Features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, elevated acute-phase proteins, myalgias, and livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients develop hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014).
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.
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.
Coffin-Lowry syndrome
MedGen UID:
75556
Concept ID:
C0265252
Disease or Syndrome
Coffin-Lowry syndrome (CLS) is usually characterized by severe-to-profound intellectual disability in males; less severely impaired individuals have been reported. Intellect ranges from normal to profoundly impaired in heterozygous females. The facial appearance is characteristic in the affected, older male child or adult. The hands are short, soft, and fleshy, often with remarkably hyperextensible fingers that taper from wide (proximally) to narrow with small terminal phalanges and nails. Males are consistently below the third centile in height. Microcephaly is common. Cardiac abnormalities may be present and can contribute to premature death. Stimulus-induced drop attacks (SIDAs) in which unexpected tactile or auditory stimuli or excitement triggers a brief collapse but no loss of consciousness are present in approximately 20% of affected individuals. Typically SIDAs begin between mid-childhood and the teens. Progressive kyphoscoliosis is one of the most difficult aspects of long-term care. Life span may be reduced.
Adams-Oliver syndrome
MedGen UID:
78544
Concept ID:
C0265268
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
Bannayan-Riley-Ruvalcaba syndrome
MedGen UID:
78554
Concept ID:
C0265326
Congenital Abnormality
The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS.
Coffin-Siris syndrome
MedGen UID:
75565
Concept ID:
C0265338
Congenital Abnormality
Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features.Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking. Another feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails. These abnormalities are most common on the fifth fingers or toes. In addition, most affected individuals have facial features described as coarse. These typically include a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp hair is often sparse. There is a range of facial features seen in people with Coffin-Siris syndrome, and not all affected individuals have the typical features. In addition, people with this condition may have an abnormally small head (microcephaly).Additionally, some infants and children with Coffin-Siris syndrome have frequent respiratory infections, difficulty feeding, and an inability to gain weight at the expected rate (failure to thrive). Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present.
Primary hyperoxaluria, type I
MedGen UID:
75658
Concept ID:
C0268164
Disease or Syndrome
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium salts that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD) with a history of renal stones or calcinosis. Age at onset of symptoms typically ranges from one to 25 years. Approximately 19% of affected individuals present before age four to six months with severe disease, often associated with failure to thrive, nephrocalcinosis, anemia, and metabolic acidosis. Approximately 54% of affected individuals present in late childhood or early adolescence, usually with symptomatic nephrolithiasis. The remainder of affected individuals present in adulthood with recurrent renal stones. The natural history of untreated PH1 is one of inexorable decline in renal function as a result of progressive nephrolithiasis/nephrocalcinosis, with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD.
De Lange syndrome
MedGen UID:
78752
Concept ID:
C0270972
Congenital Abnormality
Classic Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation (prenatal onset; <5th centile throughout life), hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched eyebrows, long eyelashes, short nose with anteverted nares, small widely spaced teeth, and microcephaly. IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS.
Idiopathic livedo reticularis with systemic involvement
MedGen UID:
76449
Concept ID:
C0282492
Disease or Syndrome
Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).
Congenital livedo reticularis
MedGen UID:
83381
Concept ID:
C0345419
Congenital Abnormality
Lenz-Majewski hyperostosis syndrome
MedGen UID:
98483
Concept ID:
C0432269
Disease or Syndrome
Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).
Fountain syndrome
MedGen UID:
208650
Concept ID:
C0795944
Disease or Syndrome
Coarse facies, mental retardation, hearing loss, and skeletal abnormalities are the major symptoms.
Congenital muscular hypertrophy-cerebral syndrome
MedGen UID:
315658
Concept ID:
C1802395
Disease or Syndrome
Classic Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation (prenatal onset; <5th centile throughout life), hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched eyebrows, long eyelashes, short nose with anteverted nares, small widely spaced teeth, and microcephaly. IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS.
MOMO syndrome
MedGen UID:
371897
Concept ID:
C1834759
Disease or Syndrome
Hypotrichosis-lymphedema-telangiectasia syndrome
MedGen UID:
375070
Concept ID:
C1843004
Disease or Syndrome
Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by Irrthum et al., 2003).
Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
MedGen UID:
347234
Concept ID:
C1859783
Disease or Syndrome
Langer Nishino Yamaguchi syndrome
MedGen UID:
350586
Concept ID:
C1862084
Disease or Syndrome
Skeletal dysplasia and progressive central nervous system degeneration, lethal
MedGen UID:
400685
Concept ID:
C1865117
Disease or Syndrome
Megalencephaly cutis marmorata telangiectatica congenita
MedGen UID:
355421
Concept ID:
C1865285
Congenital Abnormality
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by Mirzaa et al., 2012). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria.
Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts
MedGen UID:
370187
Concept ID:
C1970140
Disease or Syndrome
Growth retardation, developmental delay, coarse facies, and early death
MedGen UID:
414158
Concept ID:
C2752001
Disease or Syndrome
Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by Daoud et al., 2016).
Homocystinuria due to CBS deficiency
MedGen UID:
461694
Concept ID:
C3150344
Disease or Syndrome
Homocystinuria caused by cystathionine ß-synthase (CBS) deficiency is characterized by developmental delay/intellectual disability, ectopia lentis and/or severe myopia, skeletal abnormalities (excessive height and length of the limbs), and thromboembolism. Expressivity is variable for all of the clinical signs. Two phenotypic variants are recognized, B6-responsive homocystinuria and B6-non-responsive homocystinuria. B6-responsive homocystinuria is typically, but not always, milder than the non-responsive variant. In the majority of untreated affected individuals, ectopia lentis occurs by age eight years. Individuals are often tall and slender with an asthenic (‘marfanoid’) habitus and are prone to osteoporosis. Thromboembolism is the major cause of early death and morbidity. IQ in individuals with untreated homocystinuria ranges widely, from 10 to 138. In B6-responsive individuals the mean IQ is 79 versus 57 for those who are B6 non-responsive. Other features that may occur include: seizures, psychiatric problems, extrapyramidal signs (e.g., dystonia), hypopigmentation, malar flush, livedo reticularis, and pancreatitis.
Warsaw breakage syndrome
MedGen UID:
462008
Concept ID:
C3150658
Disease or Syndrome
Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size (microcephaly). Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks. Other common features include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and heart malformations.
Chromosome 1p32-p31 deletion syndrome
MedGen UID:
462386
Concept ID:
C3151036
Disease or Syndrome
Adams-Oliver syndrome 2
MedGen UID:
481812
Concept ID:
C3280182
Disease or Syndrome
Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).
Cornelia de Lange syndrome 5
MedGen UID:
763817
Concept ID:
C3550903
Disease or Syndrome
Classic Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation (prenatal onset; <5th centile throughout life), hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched eyebrows, long eyelashes, short nose with anteverted nares, small widely spaced teeth, and microcephaly. IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS.
Coenzyme Q10 deficiency, primary, 2
MedGen UID:
766268
Concept ID:
C3553354
Disease or Syndrome
Cornelia de Lange syndrome 4
MedGen UID:
766431
Concept ID:
C3553517
Disease or Syndrome
Classic Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation (prenatal onset; <5th centile throughout life), hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched eyebrows, long eyelashes, short nose with anteverted nares, small widely spaced teeth, and microcephaly. IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS.
Adams-Oliver syndrome 4
MedGen UID:
815422
Concept ID:
C3809092
Disease or Syndrome
Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by Shaheen et al., 2013). For a discussion of genetic heterogeneity of Adams-Oliver syndrome (AOS), see AOS1 (100300).
Moyamoya disease 6 with achalasia
MedGen UID:
816733
Concept ID:
C3810403
Disease or Syndrome
Moyamoya disease-6 with achalasia is an autosomal recessive disorder characterized by onset of severe achalasia in infancy or early childhood. Most patients develop ischemic strokes and show brain imaging consistent with moyamoya disease or intracranial angiopathy. More variable vascular features include hypertension and Raynaud phenomenon (summary by Herve et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).
STING-associated vasculopathy with onset in infancy
MedGen UID:
863159
Concept ID:
C4014722
Disease or Syndrome
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
MedGen UID:
863175
Concept ID:
C4014738
Disease or Syndrome

Recent clinical studies

Etiology

Memarzadeh A, Pengas I, Syed S, Eastwood DM
Br J Dermatol 2014 Mar;170(3):681-6. doi: 10.1111/bjd.12700. PMID: 24641785
Lagan M, Brennan R, McLoone E
Eur J Ophthalmol 2012 Sep-Oct;22(5):861-3. doi: 10.5301/ejo.5000137. PMID: 22427150
Wright DR, Frieden IJ, Orlow SJ, Shin HT, Chamlin S, Schaffer JV, Paller AS
Arch Dermatol 2009 Mar;145(3):287-93. doi: 10.1001/archdermatol.2008.545. PMID: 19289759
Li TH, Chen TH, Lin HS, Liou CW, Liu JS, Chen SS, Chen WH
Acta Neurol Taiwan 2008 Dec;17(4):233-8. PMID: 19280866
Katugampola R, Moss C, Mills C
J Am Acad Dermatol 2008 Apr;58(4):697-702. doi: 10.1016/j.jaad.2007.11.018. PMID: 18342719

Diagnosis

Memarzadeh A, Pengas I, Syed S, Eastwood DM
Br J Dermatol 2014 Mar;170(3):681-6. doi: 10.1111/bjd.12700. PMID: 24641785
Corona-Rivera JR, Acosta-León J, León-Hernández MÁ, Martínez-Macías FJ, Bobadilla-Morales L, Corona-Rivera A
Am J Med Genet A 2014 Jan;164A(1):199-203. Epub 2013 Nov 15 doi: 10.1002/ajmg.a.36210. PMID: 24243754
Lagan M, Brennan R, McLoone E
Eur J Ophthalmol 2012 Sep-Oct;22(5):861-3. doi: 10.5301/ejo.5000137. PMID: 22427150
Wright DR, Frieden IJ, Orlow SJ, Shin HT, Chamlin S, Schaffer JV, Paller AS
Arch Dermatol 2009 Mar;145(3):287-93. doi: 10.1001/archdermatol.2008.545. PMID: 19289759
Katugampola R, Moss C, Mills C
J Am Acad Dermatol 2008 Apr;58(4):697-702. doi: 10.1016/j.jaad.2007.11.018. PMID: 18342719

Therapy

Germonpre P, Balestra C, Obeid G, Caers D
Med Hypotheses 2015 Dec;85(6):863-9. Epub 2015 Sep 28 doi: 10.1016/j.mehy.2015.09.022. PMID: 26432631
Kemper TC, Rienks R, van Ooij PJ, van Hulst RA
Diving Hyperb Med 2015 Jun;45(2):84-8. PMID: 26165529
Modell MM
BMJ Case Rep 2014 Jun 4;2014 doi: 10.1136/bcr-2014-203975. PMID: 24899007Free PMC Article
Mutluoglu M, Ay H, Uzun G
N Z Med J 2011 Aug 12;124(1340):87-8. PMID: 21952389
del Boz J, Serrano Mdel M, Gómez E, Vera A
Int J Dermatol 2009 Nov;48(11):1206-8. doi: 10.1111/j.1365-4632.2009.04212.x. PMID: 20064177

Prognosis

Lagan M, Brennan R, McLoone E
Eur J Ophthalmol 2012 Sep-Oct;22(5):861-3. doi: 10.5301/ejo.5000137. PMID: 22427150
Murphy CC, Khong CH, Ward WJ, Morgan WH
J AAPOS 2007 Oct;11(5):519-21. Epub 2007 May 24 doi: 10.1016/j.jaapos.2007.03.015. PMID: 17524689
Garavelli L, Leask K, Zanacca C, Pedori S, Albertini G, Della Giustina E, Croci GF, Magnani C, Banchini G, Clayton-Smith J, Bocian M, Firth H, Gold JA, Hurst J
Genet Couns 2005;16(2):117-28. PMID: 16080291
Hu IJ, Chen MT, Tai HC, Tsao PN, Chou HC, Hsieh WS
Eur J Pediatr 2005 Jul;164(7):411-3. Epub 2005 Apr 6 doi: 10.1007/s00431-005-1666-3. PMID: 15812662
Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, Philip N
Am J Med Genet A 2004 Apr 1;126A(1):99-103. doi: 10.1002/ajmg.a.20551. PMID: 15039980

Clinical prediction guides

Germonpre P, Balestra C, Obeid G, Caers D
Med Hypotheses 2015 Dec;85(6):863-9. Epub 2015 Sep 28 doi: 10.1016/j.mehy.2015.09.022. PMID: 26432631
Wright DR, Frieden IJ, Orlow SJ, Shin HT, Chamlin S, Schaffer JV, Paller AS
Arch Dermatol 2009 Mar;145(3):287-93. doi: 10.1001/archdermatol.2008.545. PMID: 19289759
Li TH, Chen TH, Lin HS, Liou CW, Liu JS, Chen SS, Chen WH
Acta Neurol Taiwan 2008 Dec;17(4):233-8. PMID: 19280866
Melani L, Antiga E, Torchia D, Giomi B, Massi D, Caproni M, Emmi L, Fabbri P
J Dermatol 2007 Mar;34(3):210-3. doi: 10.1111/j.1346-8138.2007.00252.x. PMID: 17291305
Lapunzina P, Gairí A, Delicado A, Mori MA, Torres ML, Goma A, Navia M, Pajares IL
Am J Med Genet A 2004 Sep 15;130A(1):45-51. doi: 10.1002/ajmg.a.30235. PMID: 15368495

Recent systematic reviews

Happle R
Arch Dermatol 2005 Mar;141(3):385-8. doi: 10.1001/archderm.141.3.385. PMID: 15781681
Whitley CB, Gorlin RJ
Am J Med Genet 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. PMID: 1951437

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