Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin


Tekin B., Yucelten D., Liu L., McGrath J. A.

AUSTRALASIAN JOURNAL OF DERMATOLOGY, cilt.58, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 58 Konu: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1111/ajd.12385
  • Dergi Adı: AUSTRALASIAN JOURNAL OF DERMATOLOGY

Özet

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.