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Gorlin syndrome associated with midline nasal dermoid cyst
E K Pivnick1, A W Walter, M D Lawrence
1Health Sciences Center, University of Tennessee, Memphis 38163, USA.
Journal of Medical Genetics
|August 1, 1996
Summary
Gorlin syndrome, a genetic disorder, is linked to basal cell carcinomas. This report details the first known case of Gorlin syndrome coexisting with a nasal dermoid cyst, suggesting a shared origin.
Area of Science:
- Genetics
- Dermatology
- Oncology
Background:
- Gorlin syndrome is an autosomal dominant disorder with characteristic features like basal cell naevi and jaw cysts.
- Patients with Gorlin syndrome have an increased risk of developing basal cell carcinomas and other tumors.
- Medulloblastoma is a common brain tumor in children, and its genetic basis is being actively researched.
Observation:
- A 4-year-old girl with medulloblastoma presented with multiple naevi and rib abnormalities.
- Biopsies confirmed naevoid basal cell carcinoma in the naevi.
- A midline nasal punctum, noted at birth, was later identified as an enlarging dermoid cyst.
Findings:
- This case represents the first documented instance of Gorlin syndrome coexisting with a nasal dermoid cyst.
- The study suggests a common embryological origin for basal cell naevi, jaw cysts, and dermoid cysts.
- The association of these conditions in one patient is proposed to be non-incidental.
Implications:
- This finding expands the known clinical spectrum of Gorlin syndrome.
- It highlights the importance of recognizing early signs of developmental abnormalities, such as nasal puncta.
- Further research into the shared developmental pathways may offer new insights into tumor predisposition in Gorlin syndrome.