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Blepharitis

MedGen UID:
598
Concept ID:
C0005741
Disease or Syndrome
Synonyms: Blepharitides
SNOMED CT: Eyelid inflammation (41446000); Inflammation of lid margin (41446000); Blepharitis (41446000); Inflammation of eyelid (41446000)
 
HPO: HP:0000498

Definition

Inflammation of the eyelids. [from MeSH]

Conditions with this feature

Sea-blue histiocyte syndrome
MedGen UID:
19908
Concept ID:
C0036489
Disease or Syndrome
APOE p.Leu167del is a rare genetic variant described in 38 cases in the literature with a range of clinical phenotypes. Three phenotypes can be associated with the APOE p.Leu167del variant: Inherited lipemic splenomegaly (also known as sea-blue histiocytosis) characterized by hypertriglyceridemia and splenomegaly. Variable manifestations include thrombocytopenia, liver function abnormalities, and cardiovascular disease. Autosomal dominant hypercholesterolemia (ADH) characterized by markedly elevated LDL cholesterol levels that leads to premature morbidity and mortality from atherosclerotic cardiovascular disease (ASCVD). Familial combined hyperlipidemia (FCHL) characterized by variable elevations of total cholesterol, triglycerides, or LDL cholesterol and a high risk of premature ASCVD. It has been suggested that the phenotype associated with the APOE p.Leu167del variant may depend on multiple factors, including sex, APOE genotype, control of hyperlipidemia, gene-gene interactions, gene-environment interactions, or perhaps epigenetic and other non-Mendelian effects.
Recessive dystrophic epidermolysis bullosa
MedGen UID:
36311
Concept ID:
C0079474
Disease or Syndrome
Dystrophic epidermolysis bullosa (DEB) comprises two types based on inheritance pattern: Recessive DEB, including severe generalized (RDEB-sev gen; formerly called Hallopeau-Siemens type [RDEB-HS]) and generalized other (RDEB-O; formerly called non-Hallopeau-Siemens type [RDEB-non-HS]). Dominant DEB (DDEB). In RDEB-sev gen, blisters affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, severe nutritional deficiency and secondary problems are common. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, a hallmark of this disorder. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB-O may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the severe, mutilating scarring seen in RDEB-sev gen. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.
Hidrotic ectodermal dysplasia syndrome
MedGen UID:
56416
Concept ID:
C0162361
Congenital Abnormality
Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) is characterized by partial or total alopecia, dystrophy of the nails, hyperpigmentation of the skin (especially over the joints), and clubbing of the fingers. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is wiry, brittle, patchy, and pale; progressive hair loss may lead to total alopecia by puberty. The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed. Palmoplantar keratoderma may develop during childhood and increases in severity with age. The clinical manifestations are highly variable even within the same family.
Oromandibular-limb hypogenesis spectrum
MedGen UID:
66357
Concept ID:
C0221060
Congenital Abnormality
The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003). The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem. Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012). Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings.
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.
Keratosis pilaris decalvans
MedGen UID:
83355
Concept ID:
C0343057
Congenital Abnormality
Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009). Autosomal dominant inheritance has also been reported (KFSD; 612843). The term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair.
Hay-Wells syndrome of ectodermal dysplasia
MedGen UID:
98032
Concept ID:
C0406709
Congenital Abnormality
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (subjective hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring and alopecia, hypospadias, trismus, and excessive freckling.
Leukonychia totalis
MedGen UID:
107463
Concept ID:
C0544855
Pathologic Function
A white appearance of the nails can result from whitening of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia), and can be due to a variety of factors including infectious, metabolic, or systemic diseases, trauma, or drugs. One of the rare causes of whitening of the nail plate is hereditary leukonychia (summary by Kiuru et al., 2011). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).
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.
Dyskeratosis congenita X-linked
MedGen UID:
216941
Concept ID:
C1148551
Disease or Syndrome
Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. The classic triad may not be present in all individuals. People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include: abnormal pigmentation changes not restricted to the upper chest and neck, eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), and dental abnormalities (caries, periodontal disease, taurodauntism). Although most persons with DC have normal psychomotor development and normal neurologic function, significant developmental delay is present in the two variants in which additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome). Onset and progression of manifestations of DC vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Ichthyosis with hypotrichosis, autosomal recessive
MedGen UID:
332073
Concept ID:
C1835851
Disease or Syndrome
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1
MedGen UID:
343663
Concept ID:
C1851841
Disease or Syndrome
Ectodermal dysplasia skin fragility syndrome
MedGen UID:
388032
Concept ID:
C1858302
Disease or Syndrome
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
MedGen UID:
347666
Concept ID:
C1858562
Disease or Syndrome
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3 (ECC3) is an autosomal dominant disorder comprising absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate (summary by Maas et al., 1996). Also see EEC1 (129900), which has been mapped to chromosome 7q11.
Poikiloderma with neutropenia
MedGen UID:
388129
Concept ID:
C1858723
Disease or Syndrome
Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
MedGen UID:
400800
Concept ID:
C1865595
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).
Keratosis follicularis spinulosa decalvans, autosomal dominant
MedGen UID:
412573
Concept ID:
C2748527
Disease or Syndrome
Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; 308800) (Castori et al., 2009).
Chromosome 17q23.1-q23.2 deletion syndrome
MedGen UID:
461957
Concept ID:
C3150607
Disease or Syndrome
Inflammatory skin and bowel disease, neonatal 1
MedGen UID:
482131
Concept ID:
C3280501
Disease or Syndrome
Candidiasis, familial, 8
MedGen UID:
811541
Concept ID:
C3714992
Disease or Syndrome
Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by Boisson et al., 2013). For a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 (114580).

Recent clinical studies

Etiology

Dadaci Z, Kılınç F, Ozer TT, Sahin GO, Acir NO, Borazan M
Eye (Lond) 2015 Dec;29(12):1522-7. Epub 2015 Aug 21 doi: 10.1038/eye.2015.144. [Epub ahead of print] PMID: 26293142
Ooi KG, Wakefield D, Billson FA, Watson SL
Ophthalmic Res 2015;54(1):26-33. Epub 2015 Jun 5 doi: 10.1159/000367851. [Epub ahead of print] PMID: 26068735
Hirsch-Hoffmann S, Kaufmann C, Bänninger PB, Thiel MA
Klin Monbl Augenheilkd 2015 Apr;232(4):384-7. Epub 2015 Apr 22 doi: 10.1055/s-0035-1545780. PMID: 25902082
Bhandari V, Reddy JK
Middle East Afr J Ophthalmol 2014 Oct-Dec;21(4):317-20. doi: 10.4103/0974-9233.142268. PMID: 25371637Free PMC Article
Chiang CC, Lin CL, Tsai YY, Peng CL, Liao YT, Sung FC
PLoS One 2013;8(12):e83335. Epub 2013 Dec 30 doi: 10.1371/journal.pone.0083335. PMID: 24386181Free PMC Article

Diagnosis

Dadaci Z, Kılınç F, Ozer TT, Sahin GO, Acir NO, Borazan M
Eye (Lond) 2015 Dec;29(12):1522-7. Epub 2015 Aug 21 doi: 10.1038/eye.2015.144. [Epub ahead of print] PMID: 26293142
Duncan K, Jeng BH
Curr Opin Ophthalmol 2015 Jul;26(4):289-94. doi: 10.1097/ICU.0000000000000164. PMID: 26058027
Hirsch-Hoffmann S, Kaufmann C, Bänninger PB, Thiel MA
Klin Monbl Augenheilkd 2015 Apr;232(4):384-7. Epub 2015 Apr 22 doi: 10.1055/s-0035-1545780. PMID: 25902082
Bhandari V, Reddy JK
Middle East Afr J Ophthalmol 2014 Oct-Dec;21(4):317-20. doi: 10.4103/0974-9233.142268. PMID: 25371637Free PMC Article
Sahin GO, Dadaci Z, Ozer TT
Mycoses 2014 Sep;57(9):577-80. Epub 2014 Apr 13 doi: 10.1111/myc.12201. [Epub ahead of print] PMID: 24724801

Therapy

Ooi KG, Wakefield D, Billson FA, Watson SL
Ophthalmic Res 2015;54(1):26-33. Epub 2015 Jun 5 doi: 10.1159/000367851. [Epub ahead of print] PMID: 26068735
Duncan K, Jeng BH
Curr Opin Ophthalmol 2015 Jul;26(4):289-94. doi: 10.1097/ICU.0000000000000164. PMID: 26058027
Hirsch-Hoffmann S, Kaufmann C, Bänninger PB, Thiel MA
Klin Monbl Augenheilkd 2015 Apr;232(4):384-7. Epub 2015 Apr 22 doi: 10.1055/s-0035-1545780. PMID: 25902082
Pflugfelder SC, Karpecki PM, Perez VL
Ocul Surf 2014 Oct;12(4):273-84. Epub 2014 Jul 22 doi: 10.1016/j.jtos.2014.05.005. [Epub ahead of print] PMID: 25284773
De Marchi SU, Cecchin E, De Marchi S
BMJ Case Rep 2014 Sep 19;2014 doi: 10.1136/bcr-2014-205146. PMID: 25239991

Prognosis

Bhandari V, Reddy JK
Middle East Afr J Ophthalmol 2014 Oct-Dec;21(4):317-20. doi: 10.4103/0974-9233.142268. PMID: 25371637Free PMC Article
Chiang CC, Lin CL, Tsai YY, Peng CL, Liao YT, Sung FC
PLoS One 2013;8(12):e83335. Epub 2013 Dec 30 doi: 10.1371/journal.pone.0083335. PMID: 24386181Free PMC Article
Malerbi FK, Martins LC, Saldiva PH, Braga AL
Environ Res 2012 Jan;112:199-203. Epub 2011 Dec 26 doi: 10.1016/j.envres.2011.11.010. [Epub ahead of print] PMID: 22204918
Nemet AY, Vinker S, Kaiserman I
Ophthalmology 2011 Jun;118(6):1062-8. Epub 2011 Jan 26 doi: 10.1016/j.ophtha.2010.10.015. [Epub ahead of print] PMID: 21276617
Torkildsen GL, Cockrum P, Meier E, Hammonds WM, Silverstein B, Silverstein S
Curr Med Res Opin 2011 Jan;27(1):171-8. Epub 2010 Dec 7 doi: 10.1185/03007995.2010.539603. [Epub ahead of print] PMID: 21138337

Clinical prediction guides

Sundu C, Dinç E, Kurtuluş UC, Yıldırım Ö
Turkiye Parazitol Derg 2015 Sep;39(3):252-4. doi: 10.5152/tpd.2015.3861. PMID: 26470938
Dadaci Z, Kılınç F, Ozer TT, Sahin GO, Acir NO, Borazan M
Eye (Lond) 2015 Dec;29(12):1522-7. Epub 2015 Aug 21 doi: 10.1038/eye.2015.144. [Epub ahead of print] PMID: 26293142
Ooi KG, Wakefield D, Billson FA, Watson SL
Ophthalmic Res 2015;54(1):26-33. Epub 2015 Jun 5 doi: 10.1159/000367851. [Epub ahead of print] PMID: 26068735
Bunya VY, Brainard DH, Daniel E, Massaro-Giordano M, Nyberg W, Windsor EA, Pearson DJ, Huang J, Maguire MG, Stone RA
Cornea 2013 Nov;32(11):1475-82. doi: 10.1097/ICO.0b013e3182a02e0e. PMID: 24055901Free PMC Article
Lee SH, Oh DH, Jung JY, Kim JC, Jeon CO
Invest Ophthalmol Vis Sci 2012 Aug 15;53(9):5585-93. doi: 10.1167/iovs.12-9922. PMID: 22836761

Recent systematic reviews

O'Gallagher M, Banteka M, Bunce C, Larkin F, Tuft S, Dahlmann-Noor A
Cochrane Database Syst Rev 2016 May 30;(5):CD011750. doi: 10.1002/14651858.CD011750.pub2. PMID: 27236587
Suzuki T, Teramukai S, Kinoshita S
Ocul Surf 2015 Apr;13(2):133-49. Epub 2015 Feb 18 doi: 10.1016/j.jtos.2014.12.002. [Epub ahead of print] PMID: 25881997
Lindsley K, Matsumura S, Hatef E, Akpek EK
Cochrane Database Syst Rev 2012 May 16;(5):CD005556. doi: 10.1002/14651858.CD005556.pub2. PMID: 22592706Free PMC Article
Zhao YE, Wu LP, Hu L, Xu JR
Ophthalmic Epidemiol 2012 Apr;19(2):95-102. Epub 2012 Feb 24 doi: 10.3109/09286586.2011.642052. [Epub ahead of print] PMID: 22364595
Jackson WB
Can J Ophthalmol 2008 Apr;43(2):170-9. doi: 10.1139/i08-016. PMID: 18347619

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