Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature
- Author:
Sevgi AKARSU
1
;
Turna İLKNUR
;
Ceylan AVCI
;
Emel FETIL
Author Information
- Publication Type:Case Report
- Keywords: Cafe-au-lait spots; Genetic skin diseases; Freckles; Neurofibromatosis; Piebaldism
- MeSH: Cafe-au-Lait Spots; Child; Follow-Up Studies; Humans; Melanosis; Neurofibromatoses; Neurofibromatosis 1; Phenotype; Piebaldism; Skin Diseases, Genetic; Twins, Dizygotic
- From:Annals of Dermatology 2019;31(5):567-570
- CountryRepublic of Korea
- Language:English
- 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 café-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.
