Ann Dermatol.  2019 Oct;31(5):567-570. 10.5021/ad.2019.31.5.567.

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

• Akarsu S
• Ä°lknur T
• Avcı C
• Fetil E

• KMID: 2456236
• DOI: http://doi.org/10.5021/ad.2019.31.5.567

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.

Keyword

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

MeSH Terms

Cafe-au-Lait Spots
Child
Follow-Up Studies
Humans
Melanosis
Neurofibromatoses
Neurofibromatosis 1
Phenotype
Piebaldism*
Skin Diseases, Genetic
Twins, Dizygotic

Figure

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  Fig. 1 Café-au-lait macules on mother's dorsal trunk and depigmented macules including islands of hyperpigmented macules on her leg.

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  Fig. 2 A three generation pedigree chart of the family showing affected members with piebaldism, associated with multiple café-au-lait macules and intertriginous freckling. ●: the affected females, ■: the affected boy in the family.

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  Fig. 3 Axillary freckling and café-au-lait macules in the boy and depigmented macules including islands of hyperpigmented macules on his legs.

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  Fig. 4 Café-au-lait macules and intertriginous freckling in fraternal twins with piebaldism.

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