RESUMO
Gorlin syndrome is mainly caused by pathogenic germline variants in the tumour suppressor genes PTCH1 and SUFU, both regulatory genes in the hedgehog pathway. However, the phenotypes of patients with PTCH1 and SUFU pathogenic variants seem to differ. We present a family with a frameshift variant in the SUFU gene c.954del, p.Asn319Thrfs∗42 leading to meningiomas and multiple basal cell-carcinomas.
RESUMO
Melanonychia is seen, when melanin is incorporated in the nail, which gives a band of dark discolouration of the nail. Nail discolouration is a common cause for patients to seek medical attention, and it is often benign. Melanonychia can be seen due to melanocytic proliferation (ungual naevi), benign hyperplasia (lentigo) and hypermelanosis (infections, traumas). However, subungual melanoma also commonly presents with melanonychia and is often overseen, leading to a worse prognosis. It is therefore important systematically to examine all nail discolourations to find the cause and rule out malignancy.
Assuntos
Melanoma , Doenças da Unha , Nevo Pigmentado , Neoplasias Cutâneas , Humanos , Melanoma/diagnóstico , Melanoma/terapia , Doenças da Unha/diagnóstico , Doenças da Unha/terapia , Unhas , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapiaRESUMO
Patients undergoing cerebral revascularization surgery have a relatively high incidence of wound complications. We report a case of heterotopic epithelialization of the dura presenting as a non-healing scalp wound after an extracranial-intracranial (EC-IC) arterial bypass. The scalp wound was revised twice without healing. During the third revision, epithelial tissue was found growing on the dura and was removed. After the epithelial tissue was removed, the wound healed without further complications. This case illustrates the importance of thoroughly examining a non-healing wound to find the cause.