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Familial systematized epidermal nevus syndrome.
J F Meschia1, E Junkins, K J Hofman
1Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
American Journal of Medical Genetics
|November 15, 1992
Summary
This study reports a rare familial case of systematized epidermal nevi, often linked to non-dermatologic conditions. Autosomal dominant inheritance with decreased penetrance may explain the familial occurrence and skipped generations.
Area of Science:
- Dermatology
- Medical Genetics
Background:
- Epidermal nevi are typically congenital hamartomas.
- While usually sporadic, familial occurrence is rare.
Observation:
- A family with three relatives exhibiting systematized epidermal nevi.
- The primary case also presented with hemangioma and hemangioendothelioma.
- Karyotyping ruled out mosaicism in the propositus.
Findings:
- Systematized epidermal nevi can occur in a familial pattern.
- Non-dermatologic pathology associated with epidermal nevi can also be familial.
- Autosomal dominant inheritance with decreased penetrance is a potential explanation for familial cases.
Implications:
- Highlights the genetic basis of epidermal nevi and associated pathologies.
- Suggests genetic counseling may be beneficial for affected families.
- Broadens understanding of epidermal nevus syndrome in a familial context.