Trichoepithelioma, Multiple Familial, 1

Alternative Names

  • MFT1
  • Epithelioma Adenoides Cysticum of Brooke
  • EAC
  • Epithelioma, Hereditary Multiple Benign Cystic
  • Brooke-Fordyce Trichoepitheliomas
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WHO-ICD-10 version:2010

Neoplasms

Benign neoplasms

OMIM Number

601606

Mode of Inheritance

Autosomal dominant

Gene Map Locus

16q12-q13

Description

Trichoepithelioma is a benign skin tumor of the pilosebaceous follicle. It may occur either as nonhereditary solitary lesion or as multiple lesions (multiple trichoepitheliomas), which may be a new or autosomal dominant germline mutation. Trichoepithelioma usually appears in childhood or early adolescents and may involve a limited area of the body, most commonly on the face, or be widespread. Multiple hereditary trichoepithelioma was first described by Brooke in 1899 and was previously also known as Brooke syndrome and epithelioma adenoides cysticum. When occurring as the only cutaneous finding, it is called trichoepithelioma papulosum multiplex. Alternatively, it may be associated with other cutaneous findings such as cylindromas, spiradenomas, and milia, in a syndrome called Brooke-Spiegler. The differential diagnosis of multiple familial trichoepithelioma includes BCC, other appendageal tumors, syringoma and angiofibroma.

Treatment options include surgery, split-thickness skin grafting, dermabrasion cryotherapy, electrodessication, and carbon dioxide laser. All methods carry significant risk of side-effects, and most importantly scarring and unsatisfactory results.

Molecular Genetics

Genetic studies in families with multiple familial trichoepithelioma have firmly established that the disorders is due to germline mutations in the cylindromatosis (CYLD) gene located on chromosome 16q12-q13.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Al Aboud et al. (2006) described multiple hereditary trichoepithelioma in a Saudi kindred, affecting 14 patients and spanning five generations. Clinical examinations were preformed on the sibship, comprising of two sisters and a brother, in the 5th generation, and their mother. The mother, previously diagnosed with diabetes and epilepsy, presented with numerous skin-colored, smooth, round papules and nodules involving the face, scalp, and upper region of the back. Her son, a 27-year old man, showed tiny papules symmetrically distributed on the nasolabial folds on the face on both sides. He was earlier diagnosed with epilepsy and was withdrawn from school at early age due to mental deficiency. The eldest sister, 21-year old, presented with multiple papules involving the face, scalp, and shoulders, and no other systemic disease. The younger, 19-year old sister had multiple papules and nodules of the face, nodules around the right eye interfere with vision, and papules in the scalp coalesce to form multiple plaques of alopecia. A large exophytic nodule (5 cm) on her scalp was proven by histopathology to be trichoepithelioma. Al Aboud et al. (2006) noted that the kindred described represented one of the largest families affected with this disease to be reported. Al Aboud (2006) further remarked that it is unclear whether epilepsy and low intelligence are associations with trichoepithelioma or incidental findings.

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