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Familial cylindromatosis
1Service de Génétique Médicale, Strasbourg Hôpital de Hautepierre. Claude.Stoll@chru-strasbourg.fr
Genetic Counseling (Geneva, Switzerland)
|August 4, 2004
Summary
Familial cylindromatosis, a rare genetic disorder, causes turban tumors (dermal eccrine cylindromas) to develop on the scalp. Genetic analysis localized the familial cylindromatosis gene to chromosome 16q12-q13, suggesting it acts as a tumor suppressor gene.
Area of Science:
- Dermatology
- Genetics
- Oncology
Background:
- Familial cylindromatosis is a rare genetic condition characterized by the development of multiple dermal eccrine cylindromas, often referred to as turban tumors.
- These benign skin neoplasms typically arise on the head and neck.
Observation:
- This report details a case of familial cylindromatosis in a mother and her daughter.
- The mother presented with solitary dermal eccrine cylindromas on her head starting at age 28, with subsequent tumor development.
- The daughter developed similar lesions on her scalp starting at age 23.
Findings:
- Histopathological examination confirmed dermal eccrine cylindromas in both mother and daughter.
- A family history revealed a maternal aunt with a few similar tumors.
- The gene responsible for familial cylindromatosis was mapped to chromosome 16q12-q13.
Implications:
- Dermal eccrine cylindromas require differentiation from malignant conditions like basaloid carcinoma or metastases, and from neurofibromas.
- The identified gene is proposed to function as a tumor suppressor gene, offering insights into the pathogenesis of cylindromatosis.
- Understanding the genetic basis of familial cylindromatosis is crucial for diagnosis, genetic counseling, and potential therapeutic strategies.