Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin. (25th August 2015)

• Record Type: Journal Article
• Authors: Tekin, Burak; Yucelten, Deniz; Liu, Lu; McGrath, John A
• Is Part Of: Australasian journal of dermatology. Volume 58:Number 1(2017)
• Page Start: e17
• Page End: e19
• Publication Date: 2015-08-25
• Subjects: alopecia -- compound heterozygous -- desmoplakin -- follicular hyperkeratosis -- palmoplantar keratoderma; Dermatology -- Periodicals; Dermatology -- Australasia -- Periodicals; 616.5005
• DOI: 10.1111/ajd.12385
• Languages: English
• ISSNs: 0004-8380

Abstract

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.