title: Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders.
abstract: 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.
authors.affiliation: Austin Hospital, Dermatology.
authors.forename: Friyana K
authors.initials: FK
authors.lastname: Bhabha
authors.affiliation: Victorian Clinical Genetics Services, Clinical Genetics.
authors.forename: Maie
authors.initials: M
authors.lastname: Walsh
authors.affiliation: Royal Children's Hospital, Melbourne, Victoria, Australia.
authors.forename: David
authors.initials: D
authors.lastname: Orchard
authors.affiliation: Royal Children's Hospital Clinical Genetics Service.
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
keywords: FLNA mutation; X-linked dominant; digital fibromatosis; pigmentary defect; terminal osseous dysplasia