Brooke-Spiegler syndrome
Pouran Layegh1, Nourieh Sharifi-Sistani, Mohammad Abadian
1Qaem Hospital, Mashad University of Medical Sciences, Mashad, Iran. pouran_layegh@yahoo.com
Indian Journal of Dermatology, Venereology and Leprology
|January 28, 2009
Summary
Brooke-Spiegler syndrome (BSS) is a rare genetic disorder causing skin appendage tumors like trichoepitheliomas and cylindromas. This report details a familial case, highlighting the syndrome
Area of Science:
- Dermatology
- Genetics
- Oncology
Background:
- Brooke-Spiegler syndrome (BSS) is an uncommon autosomal dominant disorder.
- Characterized by a high propensity for developing multiple adnexal neoplasia, primarily trichoepitheliomas and cylindromas.
- Typically manifests in the second or third decade of life.
Observation:
- A case report of a 26-year-old female patient presenting with tumoral lesions on the scalp, face, and forearm.
- The patient's father and younger brother were also affected, indicating a familial pattern.
- Clinical examination revealed characteristic facial papules and scalp nodules with specific morphological features.
Findings:
- Histopathological examination of facial papules confirmed trichoepithelioma.
- Histopathological analysis of a scalp nodule revealed cylindroma.
- The presentation aligns with the known clinical spectrum of Brooke-Spiegler syndrome.
Implications:
- This case adds to the limited reported cases of Brooke-Spiegler syndrome.
- Highlights the importance of recognizing familial patterns in adnexal neoplasia.
- Emphasizes the diagnostic value of histopathology in differentiating BSS-associated tumors.
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