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- Disease Information
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Disease Processes ▼
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Disease Information for Poikiloderma congenitale
- Clinical Manifestations
- Signs & Symptoms
- Increased pigmentation/tanning/hyperpigmented
- Skin atrophy/Poikiloderma
- Disease Progression
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- 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
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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
- 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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