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

Annals of Dermatology 2019년 31권 5호 p.567 ~ 570
 ( Akarsu Sevgi ) - Dokuz Eylul University Faculty of Medicine Department of Dermatology

 ( Ilknur Turna ) - Dokuz Eylul University Faculty of Medicine Department of Dermatology
 ( Avci Ceylan ) - Bilecik State Hospital Department of Dermatology
 ( Fetil Emel ) - Dokuz Eylul University Faculty of Medicine Department of Dermatology

Abstract


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 piebaldism 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 piebaldism may not need the careful clinical follow-up and molecular testing for NF1. Besides, it may be suitable that these individuals with piebaldism showing NF1-like clinical phenotypes should be further tested for KIT and SPRED1 gene mutations.

키워드

Cafe-au-lait spots; Genetic skin diseases; Freckles; Neurofibromatosis; Piebaldism
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