Piebaldism Associated with Cafe-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature

AKARSU S., İLKNUR T., Avci C., FETİL E.

ANNALS OF DERMATOLOGY, cilt.31, sa.5, ss.567-570, 2019 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 31 Sayı: 5
  • Basım Tarihi: 2019
  • Doi Numarası: 10.5021/ad.2019.31.5.567
  • Dergi Adı: ANNALS OF DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.567-570
  • Anahtar Kelimeler: Cafe-au-lait spots, Genetic skin diseases, Freckles, Neurofibromatosis, Piebaldism
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 (NF1) due to the multiple cafe-au-lait macules (CALMs) and intertriginous freckling at the same time. It's still a debatable issue that CALMs and intertriginous freckling may be seen in the clinical spectrum of piebald ism or these patients should be regarded as coexistence of piebaldism and NF1. However, based on recent literature and our patients' findings, we suggest that this rare phenotypic variant of piebald ism may not need the careful clinical follow-up and molecular testing for NF1. Besides, it may be suitable that these individuals with piebald ism showing NF1-like clinical phenotypes should be further tested for KIT and SPRED1 gene mutations.