title: Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin.
abstract: Inherited mutations in desmosome genes can present with a spectrum of skin, hair and cardiac abnormalities. Here we describe a 4-year-old Turkish boy with a cardio-cutaneous syndrome resulting from compound heterozygous nonsense mutations in desmoplakin. Early recognition of such cases by clinical awareness of the dermatological features and molecular diagnostics can improve patient management through early cardiac support, although the risk of cardiomyopathy and arrhythmias poses a major health concern.
authors: Department of Dermatology, Marmara University School of Medicine, Istanbul, Turkey.
authors: Burak
authors: B
authors: Tekin
authors: Department of Dermatology, Marmara University School of Medicine, Istanbul, Turkey.
authors: Deniz
authors: D
authors: Yucelten
authors: Viapath, St Thomas' Hospital, London, UK.
authors: Lu
authors: L
authors: Liu
authors: Genetic Skin Disease Group, King's College London (Guy's Campus), London, UK.
authors: John A
authors: JA
authors: McGrath
mesh_terms: D000505:Alopecia / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D007644:Darier Disease / Q000235:genetics*; D051180:Desmoplakins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D012536:Scalp Dermatoses / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics*; D013577:Syndrome
chemical_list: D018389:Codon, Nonsense; D051180:Desmoplakins
keywords: alopecia; compound heterozygous; desmoplakin; follicular hyperkeratosis; palmoplantar keratoderma