Search
ichthyosis bullosa of Siemens
Epidemiology:
- rare
Pathology:
- epidermolytic hyperkeratosis
Genetics:
- autosomal dominant
- associated with defects in KRT2
Clinical manifestations:
- generalized erythema & extensive blistering from birth
- large, dark gray hyperkeratoses are observed in later weeks
- the skin is unusually fragile & has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect)
- usually improves with age; in most middle-aged patients, the hyperkeratosis & keratotic lichenification is limited to the flexural folds of the major joints
Related
keratin, type 2 cytoskeletal 2 epidermal; cytokeratin-2e; CK 2e; K2e; keratin-2 (KRT2, KRT2A, KRT2E)
General
ichthyosis; erythrokeratodermia variabilis
Database Correlations
OMIM correlations
MORBIDMAP 600194