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Familial multiple naevi flammei.

A Shuper, P Merlob, B Garty

Journal of Medical Genetics

|April 1, 1984

Summary

This study presents the third family with multiple naevi flammei, a rare vascular birthmark. It also details the first known occurrence in non-identical twins, confirming autosomal dominant inheritance.

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Area of Science:

Dermatology
Genetics
Medical Science

Background:

Multiple naevi flammei represent a rare congenital vascular malformation.
Understanding the genetic basis of naevi flammei is crucial for diagnosis and management.
Previous studies have suggested familial occurrence, but specific inheritance patterns require further elucidation.

Purpose of the Study:

To report the third documented family exhibiting multiple naevi flammei.
To present the first instance of multiple naevi flammei in non-identical twins.
To confirm the mode of inheritance for this condition within the described family.

Main Methods:

Clinical observation and documentation of affected family members.
Detailed photographic evidence of naevi flammei presentation.
Pedigree analysis to determine inheritance patterns.

Main Results:

The study identified a family with multiple individuals affected by naevi flammei.
A unique case of multiple naevi flammei was observed in non-identical twins.
Pedigree analysis strongly supported an autosomal dominant pattern of inheritance.

Conclusions:

Multiple naevi flammei can occur in non-identical twins, challenging previous assumptions.
Autosomal dominant inheritance is confirmed as the mode of transmission for multiple naevi flammei in this family.
This case expands the understanding of naevi flammei's genetic heterogeneity and presentation.

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