What causes Brooke-Spiegler syndrome?
What causes Brooke-Spiegler syndrome?
Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepitheliomas are due to germline mutations in the cylindromatosis (CYLD) gene on chromosome 16q12. These disorders have an autosomal dominant inheritance, meaning half of an affected individual’s children will also have the condition.
Is Brooke-Spiegler syndrome curable?
Brooke-Spiegler syndrome is a devastating condition with no widely accepted standard of treatment. Because Brooke-Spiegler syndrome is characterized by diffuse involvement and numerous adnexal tumors of the head and neck, surgical excision is often difficult.
What is a Turban tumor?
Cylindromas are appendage tumors of uncertain histogenesis. They may occur as solitary or multiple lesions. In case of multiple lesions numerous small papules and/or large dome-shaped nodules are present on the scalp like a turban, hence the name turban tumor.
What are trichoepitheliomas?
Trichoepithelioma is a rare benign skin lesion that originates from hair follicles. Trichoepitheliomas are mostly seen in the scalp, nose, forehead, and upper lip. These skin lesions originate from benign proliferation of epithelial-mesenchymal origin cells.
What is Brooke Spiegler?
Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disorder characterized by the presence of various adnexal tumors including multiple cylindromas, trichoepitheliomas and spiradenomas. A 35-year-old female presented with multiple asymptomatic nodular lesions over face and scalp since the age of 5 years.
What does a Trichoepithelioma look like?
Desmoplastic trichoepithelioma typically present as a firm skin-coloured to red, annular (ring-shaped) plaque with a central dimple. It is usually found on the upper cheek. Desmoplastic trichoepithelioma is stable or may slowly grow up to 1 cm in diameter. Multiple lesions are quite rare.
What is Pilomatricoma cyst?
A pilomatrixoma (PY-lo-may-trick-SO-mah), also known as pilomatricoma, is a slow-growing, usually non-cancerous, skin tumor of the hair follicle. It is most common on the face and neck, but it may be on other parts of the body. A pilomatrixoma is usually a single lump, but occasionally, there may be more than one.
