Other names: chondrodysplasia punctata with ichthyosis; Happle syndrome
OMIM: 302960
Inheritance: X-linked dominant
Incidence: rare; lethal in males
Key findings:
- skin: follicular depressions with mild scale or increased pigmentation in a linear or whorled pattern
- hair: various hair shaft abnormalities and pattered hair loss (common)
Associated findings:
- skeletal: asymptomatic bone densities on x-ray that resolve with time; limb shortening, extra digits and hip dysplasia (common)
- eyes: early cataracts (common)
Age at first appearance: birth
Long-term course: erythroderma and generalized scaling at birth resolves within several months; whorled, follicular scale often progressively improves
Diagnostic tests: analysis of cellular DNA
Abnormal gene: sterol isomerase
