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

Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis.

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.

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