Other names: chondrodysplasia punctata with ichthyosis; Happle syndrome
Inheritance: X-linked dominant
Incidence: rare; lethal in males
- 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)
- 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
Learn more about FIRST's Regional Support Network - connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.
This information is provided as a service to patients and parents of patients who have ichthyosis. It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents. Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here. All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.