Other names: ichthyosis hystrix; ichthyosis bullosa of Siemens; b-CIE; bullous congenital ichthyosiform erythroderma
OMIM: 113800
Inheritance: autosomal dominant (50% new mutations)
Incidence: rare (1:100,000?)
Key findings:
- skin: generalized redness; thick, generally dark, scales that tend to form parallel rows of spines or ridges,especially near large joints; the skin is fragile and blisters easily following trauma; extent of blistering and amount of scale is variable
- nails: thickening or dystrophy of one or more nails (common)
- hair: often sparse; no shaft abnormalities
Associated findings: none
Age at first appearance: birth
Long-term course: blistering is usually most severe at birth and improves significantly with age; scaling is lifelong; infection of blisters and blisters caused by infection is common
Diagnostic tests:
skin biopsy shows characteristic changes; analysis of cellular DNA
Abnormal gene: Keratins K1, K10 or K2e
