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