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: Burak Tekin, Deniz Yucelten, Lu Liu, John A McGrath
• Journal: The Australasian journal of dermatology (Australas J Dermatol) Vol. 58 Issue 1 Pg. e17-e19 (Feb 2017) ISSN: 1440-0960 [Electronic] Australia
• PMID: 26303123 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2015 The Australasian College of Dermatologists.

Chemical References

• Codon, Nonsense
• Desmoplakins

Topics

• Alopecia (genetics)
• Child, Preschool
• Codon, Nonsense
• Darier Disease (genetics)
• Desmoplakins (genetics)
• Heterozygote
• Humans
• Infant
• Keratoderma, Palmoplantar (genetics)
• Male
• Scalp Dermatoses (genetics)
• Skin Diseases, Genetic (genetics)
• Syndrome