Intermediate epidermolysis bullosa simplex with cardiomyopathy

Go to external page http://www.orpha.net/ORDO/Orphanet_508529


A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.

Synonyms: Intermediate EBS with cardiomyopathy

This is just here as a test because I lose it

Term information

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529

hasDbXref

OMIM:617294

has age of onset

http://www.orpha.net/ORDO/Orphanet_409944

has inheritance

http://www.orpha.net/ORDO/Orphanet_409929

has point prevalence range

http://www.orpha.net/ORDO/Orphanet_409979

notation

ORPHA:508529

part of

http://www.orpha.net/ORDO/Orphanet_595351

present in

http://www.orpha.net/ORDO/Orphanet_409991