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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.
 
Gene (location): 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.
Alopecia of scalp
MedGen UID:
658454
Concept ID:
C0574769
Finding
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Dermal atrophy
MedGen UID:
101793
Concept ID:
C0151514
Disease or Syndrome
Partial or complete wasting (atrophy) of the skin.
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.
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.
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.
Abnormal blistering of the skin
MedGen UID:
412159
Concept ID:
C2132198
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Onychogryposis of toenails
MedGen UID:
870241
Concept ID:
C4024679
Anatomical Abnormality
Thickened toenails.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpidermolysis bullosa simplex 6, generalized, with scarring and hair loss

Recent clinical studies

Diagnosis

Moss C, Wong A, Davies P
Br J Dermatol 2009 May;160(5):1057-65. doi: 10.1111/j.1365-2133.2009.09041.x. PMID: 19434791

Clinical prediction guides

Moss C, Wong A, Davies P
Br J Dermatol 2009 May;160(5):1057-65. doi: 10.1111/j.1365-2133.2009.09041.x. PMID: 19434791

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