Chondroblastoma-like tumor of the skull in a patient with cardio-facio-cutaneous syndrome.

Chondroblastoma-like tumor of the skull in a patient with cardio-facio-cutaneous syndrome.
Pathol Res Pract. 2018 Aug 07;:
Authors: Fasciano D, Wei S, Li R, Siegal GP
Abstract
Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by craniofacial deformities and heterogeneous cardiac and cutaneous manifestations. The condition is caused by de novo activating mutations in one of four genes encoding proteins involved in the RAS-MAPK signaling pathway; specifically BRAF, MEK1, MEK2, or KRAS. Variable malignancies have been reported in patients with CFCS. Herein we report a chondroblastoma-like lesion of the skull in a 20-year-old man with a clinical diagnosis of CFCS and a long-standing history of medically intractable epilepsy. Patients with CFCS have previously been noted to have poorly-defined giant cell lesions and this may be one such example.
PMID: 30100356 [PubMed - as supplied by publisher]

Source: Pathology, Research and Practice - August 7, 2018 Category: Pathology Authors: Fasciano D, Wei S, Li R, Siegal GP Tags: Pathol Res Pract Source Type: research