RESUMO
The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.
Assuntos
Síndrome do Nevo Basocelular/patologia , Neoplasias Cutâneas/patologia , Adulto , Humanos , Hipertelorismo/patologia , Masculino , Cistos Odontogênicos/diagnóstico por imagem , Cistos Odontogênicos/patologia , Radiografia Panorâmica , Escoliose/diagnóstico por imagem , Escoliose/patologiaRESUMO
Abstract: The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.
Assuntos
Humanos , Masculino , Adulto , Neoplasias Cutâneas/patologia , Síndrome do Nevo Basocelular/patologia , Escoliose/patologia , Escoliose/diagnóstico por imagem , Radiografia Panorâmica , Cistos Odontogênicos/patologia , Cistos Odontogênicos/diagnóstico por imagem , Hipertelorismo/patologiaRESUMO
Chronic mucocutaneous candidiasis is a rare disorder characterized by persistent and recurrent infections by Candida due to changes in cellular immunity and may be associated with autoimmune endocrine disorders. It is refractory to the usual antifungal treatments, which merely control it with imidazole derivatives. This reports the case of a 50-year-old female patient who referred vaginal discharge associated with vulvar ulcerated lesions and whitish plaques on oral and genital mucous membranes of onset in adolescence besides cutaneous horns in nipples. The clinical picture, family history, culture and anatomopathological studies were consistent with chronic infection by candida. Treatment with systemic antifungals obtained partial response of lesions characterizing a clinical picture of Chronic Mucocutaneous Candidiasis.
Assuntos
Candidíase Mucocutânea Crônica/patologia , Mamilos/patologia , Pele/patologia , Antifúngicos/uso terapêutico , Biópsia , Candidíase Mucocutânea Crônica/tratamento farmacológico , Candidíase Bucal/tratamento farmacológico , Candidíase Bucal/patologia , Candidíase Vulvovaginal/tratamento farmacológico , Candidíase Vulvovaginal/patologia , Feminino , Fluconazol/uso terapêutico , Humanos , Pessoa de Meia-Idade , Língua/patologia , Resultado do Tratamento , Vulva/patologiaRESUMO
Chronic mucocutaneous candidiasis is a rare disorder characterized by persistent and recurrent infections by Candida due to changes in cellular immunity and may be associated with autoimmune endocrine disorders. It is refractory to the usual antifungal treatments, which merely control it with imidazole derivatives. This reports the case of a 50-year-old female patient who referred vaginal discharge associated with vulvar ulcerated lesions and whitish plaques on oral and genital mucous membranes of onset in adolescence besides cutaneous horns in nipples. The clinical picture, family history, culture and anatomopathological studies were consistent with chronic infection by candida. Treatment with systemic antifungals obtained partial response of lesions characterizing a clinical picture of Chronic Mucocutaneous Candidiasis.