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Blepharitis

MedGen UID:
598
Concept ID:
C0005741
Disease or Syndrome
Synonym: Blepharitides
SNOMED CT: Inflammation of eyelid (1231722004); Blepharitis (41446000)
 
HPO: HP:0000498
Monarch Initiative: MONDO:0004785

Definition

Inflammation of the eyelids. [from HPO]

Conditions with this feature

Hidrotic ectodermal dysplasia syndrome
MedGen UID:
56416
Concept ID:
C0162361
Disease or Syndrome
Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) is characterized by a triad of major clinical features including partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. Sweating is preserved and there are usually no dental anomalies. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is fine, sparse, and brittle. 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. Associated features may include cutaneous hyperpigmentation (particularly over the joints) and finger clubbing. The clinical manifestations are highly variable even within the same family.
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MedGen UID:
98032
Concept ID:
C0406709
Disease or Syndrome
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 (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. 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, trismus, and excessive freckling.
Dyskeratosis congenita, X-linked
MedGen UID:
216941
Concept ID:
C1148551
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD 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.
Autosomal recessive congenital ichthyosis 11
MedGen UID:
332073
Concept ID:
C1835851
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).
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
MedGen UID:
343663
Concept ID:
C1851841
Disease or Syndrome
An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
MedGen UID:
347666
Concept ID:
C1858562
Disease or Syndrome
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 (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. 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, trismus, and excessive freckling.
Poikiloderma with neutropenia
MedGen UID:
388129
Concept ID:
C1858723
Disease or Syndrome
Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (ages 6-12 months) followed by post-inflammatory poikiloderma (age >2 years) and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life and (often) bronchiectasis. There is increased risk for myelodysplastic syndrome and, rarely, acute myelogenous leukemia. Other ectodermal findings include nail dystrophy and palmar/plantar hyperkeratosis. Most affected individuals also have reactive airway disease and some have short stature, hypogonadotropic hypogonadism, midfacial retrusion, calcinosis cutis, and non-healing skin ulcers.
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).
Inflammatory skin and bowel disease, neonatal, 1
MedGen UID:
482131
Concept ID:
C3280501
Disease or Syndrome
Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.
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).
Olmsted syndrome, X-linked
MedGen UID:
813075
Concept ID:
C3806745
Disease or Syndrome
X-linked Olmsted syndrome (OLMSX) is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits (summary by Yaghoobi et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of Olmsted disease, see OLMS1 (614594).
Keratosis follicularis spinulosa decalvans, X-linked
MedGen UID:
854384
Concept ID:
C3887525
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.
Immunoskeletal dysplasia with neurodevelopmental abnormalities
MedGen UID:
1381460
Concept ID:
C4479452
Disease or Syndrome
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
MedGen UID:
1618052
Concept ID:
C4540232
Disease or Syndrome
Immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia (IMD71) is an autosomal recessive immunologic disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood. Infectious agents include bacteria and viruses. Laboratory findings are variable, but usually show thrombocytopenia, sometimes with abnormal platelet morphology, increased serum IgE, IgA, or IgM, leukocytosis, decreased or increased T lymphocytes, and increased eosinophils. Detailed studies show impaired neutrophil and T-cell chemotaxis, as well as impaired T-cell activation due to defects in F-actin (see 102610) polymerization (summary by Brigida et al., 2018).
Ectodermal dysplasia 15, hypohidrotic/hair type
MedGen UID:
1680605
Concept ID:
C5193145
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-15 (ECTD15) is characterized by hypotrichosis that develops in early childhood and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia (van den Bogaard et al., 2019).
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
MedGen UID:
1798933
Concept ID:
C5567510
Disease or Syndrome
Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

Professional guidelines

PubMed

Rhee MK, Yeu E, Barnett M, Rapuano CJ, Dhaliwal DK, Nichols KK, Karpecki P, Mah FS, Chan A, Mun J, Gaddie IB
Eye Contact Lens 2023 Aug 1;49(8):311-318. Epub 2023 Jun 2 doi: 10.1097/ICL.0000000000001003. PMID: 37272680Free PMC Article
Sabeti S, Kheirkhah A, Yin J, Dana R
Surv Ophthalmol 2020 Mar-Apr;65(2):205-217. Epub 2019 Sep 5 doi: 10.1016/j.survophthal.2019.08.007. PMID: 31494111
Cronau H, Kankanala RR, Mauger T
Am Fam Physician 2010 Jan 15;81(2):137-44. PMID: 20082509

Recent clinical studies

Etiology

Rhee MK, Yeu E, Barnett M, Rapuano CJ, Dhaliwal DK, Nichols KK, Karpecki P, Mah FS, Chan A, Mun J, Gaddie IB
Eye Contact Lens 2023 Aug 1;49(8):311-318. Epub 2023 Jun 2 doi: 10.1097/ICL.0000000000001003. PMID: 37272680Free PMC Article
Shah PP, Stein RL, Perry HD
Cornea 2022 Aug 1;41(8):934-939. Epub 2021 Nov 3 doi: 10.1097/ICO.0000000000002911. PMID: 34743107
Halling AS, Loft N, Silverberg JI, Guttman-Yassky E, Thyssen JP
J Am Acad Dermatol 2021 Jan;84(1):139-147. Epub 2020 Aug 18 doi: 10.1016/j.jaad.2020.08.051. PMID: 32822798
Hom MM, Mastrota KM, Schachter SE
Optom Vis Sci 2013 Jul;90(7):e198-205. doi: 10.1097/OPX.0b013e3182968c77. PMID: 23748846
Bernardes TF, Bonfioli AA
Semin Ophthalmol 2010 May;25(3):79-83. doi: 10.3109/08820538.2010.488562. PMID: 20590417

Diagnosis

Rhee MK, Yeu E, Barnett M, Rapuano CJ, Dhaliwal DK, Nichols KK, Karpecki P, Mah FS, Chan A, Mun J, Gaddie IB
Eye Contact Lens 2023 Aug 1;49(8):311-318. Epub 2023 Jun 2 doi: 10.1097/ICL.0000000000001003. PMID: 37272680Free PMC Article
Shah PP, Stein RL, Perry HD
Cornea 2022 Aug 1;41(8):934-939. Epub 2021 Nov 3 doi: 10.1097/ICO.0000000000002911. PMID: 34743107
Tavassoli S, Wong N, Chan E
Clin Exp Ophthalmol 2021 Mar;49(2):104-117. Epub 2021 Feb 3 doi: 10.1111/ceo.13900. PMID: 33403718
Amescua G, Akpek EK, Farid M, Garcia-Ferrer FJ, Lin A, Rhee MK, Varu DM, Musch DC, Dunn SP, Mah FS; American Academy of Ophthalmology Preferred Practice Pattern Cornea and External Disease Panel
Ophthalmology 2019 Jan;126(1):P56-P93. Epub 2018 Oct 23 doi: 10.1016/j.ophtha.2018.10.019. PMID: 30366800
Cronau H, Kankanala RR, Mauger T
Am Fam Physician 2010 Jan 15;81(2):137-44. PMID: 20082509

Therapy

Rhee MK, Yeu E, Barnett M, Rapuano CJ, Dhaliwal DK, Nichols KK, Karpecki P, Mah FS, Chan A, Mun J, Gaddie IB
Eye Contact Lens 2023 Aug 1;49(8):311-318. Epub 2023 Jun 2 doi: 10.1097/ICL.0000000000001003. PMID: 37272680Free PMC Article
Shah PP, Stein RL, Perry HD
Cornea 2022 Aug 1;41(8):934-939. Epub 2021 Nov 3 doi: 10.1097/ICO.0000000000002911. PMID: 34743107
Sandford EC, Muntz A, Craig JP
Clin Exp Optom 2021 Apr;104(3):315-322. Epub 2021 Mar 10 doi: 10.1111/cxo.13148. PMID: 33037703
Amescua G, Akpek EK, Farid M, Garcia-Ferrer FJ, Lin A, Rhee MK, Varu DM, Musch DC, Dunn SP, Mah FS; American Academy of Ophthalmology Preferred Practice Pattern Cornea and External Disease Panel
Ophthalmology 2019 Jan;126(1):P56-P93. Epub 2018 Oct 23 doi: 10.1016/j.ophtha.2018.10.019. PMID: 30366800
Cronau H, Kankanala RR, Mauger T
Am Fam Physician 2010 Jan 15;81(2):137-44. PMID: 20082509

Prognosis

Kychygina A, Cassagne M, Tauber M, Galiacy S, Paul C, Fournié P, Simon M
Clin Rev Allergy Immunol 2022 Jun;62(3):519-533. Epub 2022 Mar 11 doi: 10.1007/s12016-022-08934-0. PMID: 35275334
Moris García V, Valenzuela Vargas G, Marín Cornuy M, Aguila Torres P
Arch Soc Esp Oftalmol (Engl Ed) 2019 Jul;94(7):316-322. Epub 2019 May 29 doi: 10.1016/j.oftal.2019.04.003. PMID: 31151686
Schraufnagel DE, Balmes JR, Cowl CT, De Matteis S, Jung SH, Mortimer K, Perez-Padilla R, Rice MB, Riojas-Rodriguez H, Sood A, Thurston GD, To T, Vanker A, Wuebbles DJ
Chest 2019 Feb;155(2):417-426. Epub 2018 Nov 9 doi: 10.1016/j.chest.2018.10.041. PMID: 30419237Free PMC Article
Chen JJ, Applebaum DS, Sun GS, Pflugfelder SC
J Am Acad Dermatol 2014 Mar;70(3):569-75. Epub 2013 Dec 15 doi: 10.1016/j.jaad.2013.10.036. PMID: 24342754
McCulley JP
Int Ophthalmol Clin 1984 Summer;24(2):65-77. doi: 10.1097/00004397-198424020-00009. PMID: 6233233

Clinical prediction guides

Gaddie IB, Donnenfeld ED, Karpecki P, Vollmer P, Berdy GJ, Peterson JD, Simmons B, Edell ARP, Whitson WE, Ciolino JB, Baba SN, Holdbrook M, Trevejo J, Meyer J, Yeu E; Saturn-2 Study Group
Ophthalmology 2023 Oct;130(10):1015-1023. Epub 2023 Jun 5 doi: 10.1016/j.ophtha.2023.05.030. PMID: 37285925
Kychygina A, Cassagne M, Tauber M, Galiacy S, Paul C, Fournié P, Simon M
Clin Rev Allergy Immunol 2022 Jun;62(3):519-533. Epub 2022 Mar 11 doi: 10.1007/s12016-022-08934-0. PMID: 35275334
Halling AS, Loft N, Silverberg JI, Guttman-Yassky E, Thyssen JP
J Am Acad Dermatol 2021 Jan;84(1):139-147. Epub 2020 Aug 18 doi: 10.1016/j.jaad.2020.08.051. PMID: 32822798
Navel V, Mulliez A, Benoist d'Azy C, Baker JS, Malecaze J, Chiambaretta F, Dutheil F
Ocul Surf 2019 Oct;17(4):655-669. Epub 2019 Jun 20 doi: 10.1016/j.jtos.2019.06.004. PMID: 31229586
Schraufnagel DE, Balmes JR, Cowl CT, De Matteis S, Jung SH, Mortimer K, Perez-Padilla R, Rice MB, Riojas-Rodriguez H, Sood A, Thurston GD, To T, Vanker A, Wuebbles DJ
Chest 2019 Feb;155(2):417-426. Epub 2018 Nov 9 doi: 10.1016/j.chest.2018.10.041. PMID: 30419237Free PMC Article

Recent systematic reviews

Halling AS, Loft N, Silverberg JI, Guttman-Yassky E, Thyssen JP
J Am Acad Dermatol 2021 Jan;84(1):139-147. Epub 2020 Aug 18 doi: 10.1016/j.jaad.2020.08.051. PMID: 32822798
Navel V, Mulliez A, Benoist d'Azy C, Baker JS, Malecaze J, Chiambaretta F, Dutheil F
Ocul Surf 2019 Oct;17(4):655-669. Epub 2019 Jun 20 doi: 10.1016/j.jtos.2019.06.004. PMID: 31229586
O'Gallagher M, Bunce C, Hingorani M, Larkin F, Tuft S, Dahlmann-Noor A
Cochrane Database Syst Rev 2017 Feb 7;2(2):CD011965. doi: 10.1002/14651858.CD011965.pub2. PMID: 28170093Free PMC Article
O'Gallagher M, Banteka M, Bunce C, Larkin F, Tuft S, Dahlmann-Noor A
Cochrane Database Syst Rev 2016 May 30;2016(5):CD011750. doi: 10.1002/14651858.CD011750.pub2. PMID: 27236587Free PMC Article
Saccà SC, Vagge A, Pulliero A, Izzotti A
Medicine (Baltimore) 2014 Dec;93(28):e216. doi: 10.1097/MD.0000000000000216. PMID: 25526440Free PMC Article

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