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[Multiple trichoepitheliomas, cylindromas and milia. An entity]
Annales De Dermatologie Et De Venereologie
|January 1, 1987
Summary
This study investigates a rare genetic skin condition, familial trichoepitheliomas and cylindromas, inherited in an autosomal dominant pattern. Findings suggest incomplete cell differentiation and apocrine origin for cylindromas, with limited treatment options.
Area of Science:
- Dermatology
- Genetics
- Oncology
Background:
- Familial trichoepitheliomas and cylindromas represent a rare genetic disorder.
- This condition is inherited as an autosomal dominant trait with variable penetrance.
- The association of facial papular trichoepitheliomas with scalp cylindromas is a classical presentation.
Observation:
- Four patients from two families presented with facial papular trichoepitheliomas and scalp cylindromas.
- One patient also exhibited milia.
- Histochemical and monoclonal antibody studies were performed on tumor biopsies.
Findings:
- Histochemical analysis indicated ATPase negativity and phosphorylase weak positivity in both tumor types.
- NADH diaphorase was positive in trichoepithelioma basal cells and diffusely in cylindromas, suggesting apocrine origin for cylindromas.
- Langerhans cells were detected in both tumor types; antikeratinocyte antibodies indicated incomplete cell differentiation.
Implications:
- The findings support the hypothesis of incomplete cell differentiation in these tumors.
- Current treatments, including retinoids, have shown ineffectiveness.
- Surgical excision or electrocoagulation are the primary options for cosmetic management.