title: Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
abstract: Mutations in genes encoding for desmosomal components are associated with a broad spectrum of phenotypes comprising skin and hair abnormalities and account for 45-50% of cases of arrhythmogenic right ventricular cardiomyopathy. Today, more than 120 dominant and recessive desmoplakin (DSP) gene mutations have been reported to be associated with skin, hair and/or heart defects. Here we report on 3 cases with yet unreported DSP mutations, c.7566_7567delAAinsC, p.R2522Sfs*39, c.7756C>T, p.R2586*, c.2131_2132delAG and c.1067C>A, p.T356K, that were associated with variable woolly hair or hypotrichosis, palmoplantar keratoderma, and cardiac manifestations. In addition, we review and summarise the clinical features and DSP mutations of the patients described in the literature, which illustrates the complexity of this group of disorders and of their genotype-phenotype correlations, which cannot be easily predicted. Early diagnosis is crucial and cardiac examinations have to be performed on a regular basis.
authors.affiliation: Department of Dermatology, Medical Center, University Freiburg, Freiburg, Germany.
authors.forename: Manuela
authors.initials: M
authors.lastname: Pigors
authors.forename: Agnes
authors.initials: A
authors.lastname: Schwieger-Briel
authors.forename: Rodica
authors.initials: R
authors.lastname: Cosgarea
authors.forename: Adriana
authors.initials: A
authors.lastname: Diaconeasa
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: Thilo
authors.initials: T
authors.lastname: Fleck
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D051180:Desmoplakins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006201:Hair Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D040941:Heredity; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors
chemical_list: C495294:DSP protein, human; D051180:Desmoplakins