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epidermolysis bullosa simplex with mottled pigmentation
Pathology:
- intraepidermal epidermolysis bullosa
Genetics:
- associated with defects in KRT5
Clinical manifestations:
- blistering at acral sites & 'mottled' pigmentation of the trunk & proximal extremities with hyperpigmentation & hypopigmentation macules
Database Correlations
OMIM 131960
References
OMIM :accession 131960