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

More general terms

• ichthyosis; erythrokeratodermia variabilis

Additional terms

• keratin, type 2 cytoskeletal 2 epidermal; cytokeratin-2e; CK 2e; K2e; keratin-2 (KRT2, KRT2A, KRT2E)

Database

• OMIM: https://mirror.omim.org/entry/146800
• OMIM: https://mirror.omim.org/entry/600194