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Carcinosarcoma arising in a patient with multiple cylindromas
Vincenzo De Francesco1, Alfonsina Frattasio, Barbara Pillon
1Institute of Dermatology, Department of Clinical and Experimental Pathology and Medicine, University School of Medicine, Udine, Italy. dermatologia-univ-ud@libero.it
The American Journal of Dermatopathology
|January 29, 2005
Summary
Familial cylindromatosis, also known as Brooke-Spiegler syndrome, is a rare genetic disorder. This case highlights a unique biphasic malignant skin tumor developing in a patient with this syndrome, a rare occurrence.
Area of Science:
- Dermatology
- Oncology
- Genetics
Background:
- Familial cylindromatosis (Brooke-Spiegler syndrome) is an autosomal dominant inherited condition.
- It is characterized by multiple adnexal tumors, including cylindromas, trichoepitheliomas, and spiradenomas.
- Malignant transformation into cylindrocarcinoma can occur.
Observation:
- A 75-year-old woman with Brooke-Spiegler syndrome presented with numerous scalp, facial, and truncal nodules.
- Previous surgery in 1997 involved forehead and scalp excision with skin grafting.
- A painful, rapidly enlarging truncal nodule was excised in 2002.
Findings:
- Histological examination revealed multiple cylindromas, spiradenomas, trichoepitheliomas, and an adenomatous component.
- The excised truncal nodule showed a biphasic malignant cutaneous tumor with adnexal carcinoma and atypical spindle cells.
- This represents a rare biphasic malignant skin tumor, unprecedented in Brooke-Spiegler syndrome.
Implications:
- The study discusses the morphogenesis of adnexal tumors in Brooke-Spiegler syndrome, emphasizing mesenchymal cell roles.
- A biphasic tumor in this context may represent a true carcinosarcoma.
- This case expands the understanding of malignant potential in familial cylindromatosis due to CYLD gene mutations.