Multiple trichoepithelioma syndrome is a rare entity, and little is known about its epidemiological features. Patients usually present with multiple nonsuspicious skin lesions. Surgical excision is the mainstay of treatment, and diagnosis is usually made after the first pathology report. Once the diagnosis is established, patients are kept under clinical surveillance, and surgery is performed again if tumor burden and/or size justifies it. The authors present a male patient who presented to our outpatient clinic for the first time in 36 years without any relevant medical history, medication, or allergies. The patient had complaints of multiple skin lesions spreading across the head and neck regions. Surgical excision of the affected area and resurfacing using local advancement flaps were performed. Pathology reports were always consistent with trichoepitheliomas. No pathology of spiradenoma or cylindroma was ever reported. Usually, tumors are small enough for simple excision and primary closure. However, in the presented case, the size of the tumor and the involvement of central facial aesthetic units demanded a more complex approach.

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Germline mutations in the cylindromatosis gene (CYLD) are associated with a rare autosomal dominant disease known as CYLD cutaneous syndrome (CCS). Patients present multiple neoplasms originating from skin appendages. Here, we investigated the main clinical and molecular features of a large family with CCS having lived in a small Brazilian town for 6 generations, making its prevalence significantly high. We observed a predominance of the disease among males and a wide phenotypic variation. A high frequency of basal cell carcinomas among affected people was found. The mutation c.2806C>T, p.Arg936* in the CYLD gene was detected in all patients. In this work, a geographical cluster of CCS was found, which raised some community genetics issues related not only to the high prevalence of a rare disease in a limited area but also to the strong social stigma associated with the disease.

The management of trichoepitheliomas is challenging, especially in children. This challenge is exemplified in patients with multiple trichoepitheliomas who present with progression of lesion count and size despite treatment with current strategies, including CO2 laser and surgery. We present the novel use of topical 1% sirolimus cream in two siblings with multiple facial trichoepitheliomas; one was treated with a combination of CO2 laser ablation and topical sirolimus, and the other was treated with topical sirolimus alone. Both siblings had a reduction in the growth of new lesions with no reported side effects. This is the first report demonstrating that topical sirolimus, either in combination with CO2 laser or alone, can be a promising treatment for trichoepitheliomas.

BACKGROUND: Multiple skin cylindromas are of autosomal dominant transmission and may be associated with spiradenoma and trichoepithelioma. This condition is known as Brooke-Spiegler syndrome. The aim of this study is to compare surgical and laser treatment for these lesions.
METHODS: Five patients from a single family (two male and three female) consulted at the dermatology department for the treatment of multiple cylindromas of the scalp. The female patients presented a more severe form that had developed into \"turban tumour\". All patients were initially treated by surgery. Two had undergone multiple surgical excisions alone while the others had been treated with CO2 laser. One of the female patients treated with surgery had undergone complete excision of the scalp covered by total skin graft. The three patients treated with CO2 laser were completely satisfied with their therapy, which enabled a larger number of lesions to be treated at each session. They underwent one session every three months under local anaesthesia.
CONCLUSIONS: CO2 laser constitutes an alternative to surgery in the treatment of multiple skin cylindroma. It gives excellent cosmetic result with excellent safety and a high degree of satisfaction among treated patients. It should be proposed for patients refusing surgery or where the number of lesions enables first-line use of this approach to be envisaged.

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. There were no complaints suggestive of systemic involvement. Her son, elder sister, younger sister, father, father\'s sister, and grandmother had history of similar lesions. On examination, there were multiple asymptomatic skin-colored firm papulonodular lesions measuring from 2 to 8 mm in diameter, with smooth surface mainly affecting central part of face. Scalp showed pinkish, firm, smooth-surfaced, dome-shaped nodules measuring about 1 to 3 cm in size. Histopathological examination was consistent with trichoepitheliomas for the facial lesions and cylindromas for the scalp lesions. The diagnosis of BSS was thus confirmed.