RESUMO
Rubinstein-Taybi syndrome (RTS) is an autosomaldominant hereditary disease, which contains many skeletal and organ anomalies as well as mental retardation. Although high incidence of keloids in RTS is known, it is difficult to find a detailed report on the clinical features of keloids. In the following letter, we report an RTS patient fulfilling diagnostic criteria whosuffered from both keloids and pilomatricoma. We also performed a literature search, which identified the possible involvement of the Wnt/ß-catenin signaling pathway in the pathogenesis of these two skin lesions.
Assuntos
Queloide/genética , Pilomatrixoma/genética , Síndrome de Rubinstein-Taybi , Adulto , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/genética , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/metabolismo , Humanos , Queloide/patologia , Masculino , Síndrome de Rubinstein-Taybi/genética , Transdução de Sinais , Proteínas Wnt/metabolismo , beta Catenina/metabolismoAssuntos
Inibidores da Angiogênese/uso terapêutico , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Hemangiossarcoma/tratamento farmacológico , Pirimidinas/uso terapêutico , Couro Cabeludo , Neoplasias Cutâneas/tratamento farmacológico , Sulfonamidas/uso terapêutico , Humanos , Indazóis , Masculino , Pessoa de Meia-IdadeRESUMO
A 29-year-old man diagnosed as having pulmonary sarcoidosis in 2008, and hypothyroidism secondary to thyroidectomy for Basedow's disease was admitted to our hospital with pustular psoriasis in November 2010. He experienced high fever (38°C) and headache in late October 2010. Gadolinium-enhanced T1-weighted image showed multiple micronodular lesions with leptomeningeal enhancement, mainly in the brainstem. Cerebrospinal fluid (CSF) analysis revealed pleocytosis, raised protein level and hypoglycorrhachia (7 mg/dl). The patient was also found to have osteonecrosis of the left femoral head. Antituberculous treatment and steroid pulse therapy were started, but produced no improvement of either the symptoms or the laboratory data. Finally, the patient was diagnosed as having meningeal disseminated sarcoidosis by meningeal biopsy in late March 2011. He was started on treatment with 60 mg prednisolone per day, which resulted in marked clinical improvement. It should be borne in mind that marked hypoglycorrhachia in the CSF can also be seen in meningeal disseminated sarcoidosis.