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What is segmental neurofibromatosis?

C Moss¹, S H Green

¹Department of Dermatology, Birmingham Children's Hospital, Ladywood Middleway, U.K.

The British Journal of Dermatology

|January 1, 1994

Summary

Mosaicism for neurofibromatosis type 1 (NF1) may occur in mothers of affected children, presenting with limited skin lesions. Diagnosing maternal NF1 mosaicism can be challenging, impacting genetic risk assessment.

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Area of Science:

Genetics
Dermatology
Medical Genetics

Background:

Neurofibromatosis type 1 (NF1) is a common genetic disorder.
NF1 is characterized by café-au-lait spots, neurofibromas, and Lisch nodules.
Maternal germline mosaicism for NF1 is a recognized but infrequently diagnosed phenomenon.

Observation:

Two unrelated families presented with children diagnosed with NF1.
Mothers in both cases exhibited cutaneous NF1 lesions with limited distribution.
Case 1 mother showed a clearly segmental pattern, suggesting mosaicism.
Case 2 mother's pattern was less obviously segmental, but also suggestive of mosaicism.

Findings:

The study suggests that limited cutaneous manifestations in mothers can represent mosaicism for the NF1 mutation.
Segmental NF1 in a parent may indicate germline mosaicism transmitted to offspring.
Diagnosing NF1 mosaicism is difficult in individuals without affected offspring or with subtle cutaneous findings.

Implications:

Understanding maternal mosaicism is crucial for accurate genetic counseling in NF1.
This highlights the importance of careful dermatological examination of parents in NF1 cases.
Further research is needed to refine diagnostic criteria and genetic risk assessment for NF1 mosaicism.

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