Introduction: Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder characterised by development of multiple basal cell carcinomas (BCC) at a young age.
Case report: A 7 year female child presented with MULTIPLE skin growths on the neck, face and upper chest for 3 years, with prominent forehead and mild non-scarring alopecia. She also had a history of medulloblastoma treated 3 years ago. There was no significant family history. Biopsy from one of the lesions showed basal cell carcinoma (BCC).
Discussion: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder caused by mutations in the tumour suppressor patched 1 (PTCH-1) gene. Patients present with both cutaneous and extra-cutaneous manifestations. Multiple basal cell carcinomas (BCCs) are one of the most frequent cutaneous manifestations, occurring on both photo-exposed and non-exposed areas. The commonest extra-cutaneous tumours are medulloblastomas, which are often the first presentation of the disease. There are multiple but no established treatment modalities for the disease.
Goldenhar syndrome is a rare, presumably inherited condition that has a multifactorial etiopathology that results in disturbances of blastogenesis. The syndrome is characterized by the presence of dermal epibulbar tumors, periauricular appendices, malformed ears, and vertebral anomalies, with occasional occurrence of cardiac, visceral, or central nervous system anomalies. This report describes a case of Goldenhar syndrome in a newborn who presented with all of the classic signs of Goldenhar syndrome associated with the rare occurrence of infectious keratitis and hydrocephalus.
Antineutrophil cytoplasmic antibody-associated vasculitis has associations with both thrombosis and diffuse alveolar hemorrhage (DAH). Management of patients having coexistence of both thrombotic and hemorrhagic manifestations is challenging. Thrombotic conditions require anticoagulation, which can theoretically increase the risk of bleeding and thereby worsen DAH. In this review, we highlight the management of a patient of granulomatosis with polyangiitis with DAH who developed deep vein thrombosis. A systematic review of the literature was also performed summarizing and discussing the issues pertaining to the management of such patients.
Introduction: Gorlin syndrome (GS) or nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder characterised by development of multiple basal cell carcinomas (BCCs) at a young age. NBCCS occurs because of mutations in the PTCH1 gene, which functions as a tumour suppressor gene.
Patients with GS can have varied manifestations, both cutaneous and extra-cutaneous. The most notable cutaneous manifestations are BCCs, which are also the most characteristic tumours in GS, and palmar/plantar pits. Besides the BCC, medulloblastomas are the second most characteristic malignant presentation.
There are a set of criteria for the diagnosis of GS, which have a high predictability in making an accurate diagnosis of GS. Genetic testing for PTCH1 gene is one of the diagnostic criteria, which is positive in about 60% of patients.
Patients with GS need a multidisciplinary approach. Mohs micrographic surgery is recommended for BCCs on high risk areas. SMO receptor inhibitors such as Vismodegib and Sonidegib have been approved by FDA for the treatment of advanced BCCs.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.