Epidermolysis bullosa

Gene: DSC3

I don't know

PMID: 19765682;
- large family from Afghanistan with 4x affecteds with hereditary hypotrichosis and the appearance of recurrent skin vesicle formation
- homozygous for p.(Leu710*)

However, Payne 2010 (PMID: 20159115) and Fine 2014 (PMID: 24690439) argued that no definitive clinical or histopathologic evidence of blistering was presented. This family's phenotype is more consistent with a different skin disorder known as keratosis pilaris, which is associated with follicular plugging on histology.

PMID: 31790667;
- 1x proband born to consanguineous Egyptian parents with unequivocal skin blistering and hypotrichosis. From 4 years of age, he started to develop blisters on his hands, feet, and knees, as well as at sites of trauma
- homozygous for p.(Leu727*)
- Immunofluorescence microscopy in patient’s skin revealed a complete absence of DSC3 labeling, consistent with nonsense-mediated RNA decay
Sources: Literature

Created: 10 Aug 2020, 4:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotrichosis and recurrent skin vesicles (MIM# 613102)

Publications

• 19765682
• 20159115
• 24690439
• 31790667