Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss(EBS6)

MedGen UID:: 934598
•Concept ID:: C4310631
•: Disease or Syndrome

Synonyms:	EBS6; Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy; EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH SCARRING AND HAIR LOSS, WITH OR WITHOUT DILATED CARDIOMYOPATHY; Epidermolysis bullosa simplex, generalized, with scarring and hair loss
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	KLHL24 (3q27.1)

Monarch Initiative:	MONDO:0015006
OMIM®:	617294
Orphanet:	ORPHA508529

Disease characteristics

Excerpted from the GeneReview: Epidermolysis Bullosa Simplex

Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy. [from GeneReviews]

Authors:
Jodi Y So | Joyce Teng view full author information

Additional description

From OMIM
Generalized epidermolysis bullosa simplex-6 with scarring and hair loss, with or without dilated cardiomyopathy (EBS6) is characterized by extensive skin erosions present at birth that heal with pigmentation defects and atrophy. Skin fragility improves with age, with progressive alopecia developing by adulthood (Lin et al., 2016, He et al., 2016). In addition, patients are at risk for the development of severe dilated cardiomyopathy in young adulthood, with some requiring cardiac transplantation (Schwieger-Briel et al., 2019). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760). http://www.omim.org/entry/617294

Clinical features

From HPO

Diffuse palmoplantar hyperkeratosis

MedGen UID:: 7201
•Concept ID:: C0022584
•: Disease or Syndrome

Diffuse abnormal thickening of the skin on the palms and soles.

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Alopecia of scalp

MedGen UID:: 658454
•Concept ID:: C0574769
•: Finding

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Alopecia

MedGen UID:: 7982
•Concept ID:: C0002170
•: Finding

A noncongenital process of hair loss, which may progress to partial or complete baldness.

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Dermal atrophy

MedGen UID:: 101793
•Concept ID:: C0151514
•: Disease or Syndrome

Partial or complete wasting (atrophy) of the skin.

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Hypopigmentation of the skin

MedGen UID:: 102477
•Concept ID:: C0162835
•: Disease or Syndrome

A reduction of skin color related to a decrease in melanin production and deposition.

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Dystrophic toenail

MedGen UID:: 318813
•Concept ID:: C1833225
•: Finding

Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.

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Sparse body hair