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2.
Nagoya J Med Sci ; 83(2): 393-396, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34239189

RESUMO

Basal cell nevus syndrome (BCNS) is an autosomal dominant skin disorder characterized by multiple basal cell nevi. Patients with BCNS tend to develop basal cell carcinoma (BCC) and frequently show skeletal abnormalities. Most cases of BCNS are caused by mutations in patched 1 (PTCH1). PTCH1 encodes a transmembrane receptor protein for the secreted molecule sonic hedgehog, which plays a key role in the development of animals ranging from insects to mammals. We analyzed two Japanese BCNS patients from two independent families. Both of our patients had multiple jaw keratocysts. In one patient, these were the key to noticing his BCNS, as he had no skin tumors. The early detection of PTCH1 mutations would enable BCNS patients to be carefully followed up for the occurrence of BCC. The diagnosis of BCC at the early stage leads to prompt surgical treatments, resulting in a good prognosis. The present cases suggest that keratocysts of the jaw might be an important clue for diagnosing BCNS.


Assuntos
Síndrome do Nevo Basocelular , Síndrome do Nevo Basocelular/diagnóstico , Síndrome do Nevo Basocelular/genética , Carcinoma Basocelular , Proteínas Hedgehog , Humanos , Masculino , Cistos Odontogênicos/diagnóstico , Cistos Odontogênicos/genética , Receptor Patched-1/genética
5.
Dermatol Surg ; 29(12): 1233-5, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14725670

RESUMO

BACKGROUND: The most frequent radiation-induced skin cancers are basal cell carcinomas (BCCs), and in many cases, they may occur subsequent to tinea capitis, hypertrophic tonsillitis, acne vulgaris, atopic dermatitis, and hyperthyroidosis. BCCs occurring after radiotherapy for carcinoma of the cervix are extremely rare. OBJECTIVE: To describe a case of multiple pigmented BCCs caused by radiotherapy for carcinoma of the cervix. RESULTS: A 76-year-old female presented with four tumoral lesions within a previously irradiated area. The patient had undergone radiation therapy for cervical cancer 38 years before. All of the lesions were totally excised and histopathologically diagnosed as BCCs. There was no apparent gross chronic radiodermatitis around the lesions, but characteristic histopathologic alterations of radiodermatitis were observed. No new tumors were observed to date. CONCLUSION: The latent period for radiation-induced skin cancer is generally very long; secondary skin cancers can develop very late in life. Patients previously treated with radiation therapy require careful follow-up for life.


Assuntos
Carcinoma Basocelular/etiologia , Carcinoma Basocelular/patologia , Neoplasias Induzidas por Radiação/patologia , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/patologia , Neoplasias do Colo do Útero/radioterapia , Idoso , Feminino , Humanos
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