Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders

摘要

Terminal osseous dysplasia with pigmentary defects (TOD) is an extremely rare X-linked dominant disorder, which is characterised by cutaneous digital fibromas, pigmentary skin defects and skeletal abnormalities. A single mutation in the last nucleotide of exon 31 of the filamin A gene (FLNA) has recently been identified as a cause of the disease. We describe a case of an 18-month-old girl with the clinical phenotype of TOD and the disease-specific FLNA mutation confirmed by genetic testing. This report highlights the importance of recognising this distinct phenotype that can present to a wide variety of health-care professionals, and reviews the spectrum of filamin A disorders.