Disease Information for Poikiloderma congenitale

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Clinical Manifestations
Signs & Symptoms
Increased pigmentation/tanning/hyperpigmented
Skin atrophy/Poikiloderma
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
Other Tests & Procedures
Fetoscopy Abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Hyperpigmentation
Poikiloderma congenitale
Disease Mechanism & Classification
Class
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Skin disorder (ex)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
Definition

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of hair, nails, and teeth, and hypogonadism.

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External Links Related to Poikiloderma congenitale
Google
Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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