Café-au-lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome

Cathy A. Stevens, Pei-Wen Chiang, Ludwine M. Messiaen

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Piebaldism is an autosomal dominant disorder characterized by congenital hypopigmented patches of skin and hair and has been found to be associated with mutations in the KIT or SLUG genes. Café-au-lait macules (CALM) may occasionally be seen in piebaldism. There are four reports describing six patients who were said to have both piebaldism and neurofibromatosis type 1 (NF1) due to the presence of multiple CALM and intertriginous freckling, but none of these patients had undergone comprehensive NF1 mutation analysis. We describe a large family with piebaldism in which two members meet diagnostic criteria for NF1 based on the presence of >5 CALM and intertriginous freckling. Interestingly, only these two family members are of mixed race, which could be of importance. A novel complex mutation in the KIT gene was identified in several family members affected with piebaldism; the proband meeting diagnostic criteria for NF1 also underwent comprehensive NF1 and SPRED1 testing with no mutations detected. These findings suggest that piebaldism may occasionally include CALM and intertriginous freckling, which may create diagnostic confusion especially in the absence of a family history of piebaldism. However, careful clinical evaluation and molecular testing if necessary should distinguish these two disorders.

Original languageEnglish (US)
Pages (from-to)1195-1199
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number5
DOIs
StatePublished - May 2012

Fingerprint

Piebaldism
Neurofibromatoses
Neurofibromatosis 1
Mutation
Confusion
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Legius syndrome
Hair
Genes
Skin

Keywords

  • Café-au-lait macules
  • KIT gene
  • Legius syndrome
  • Neurofibromatosis
  • Piebaldism
  • SLUG gene
  • SPRED1 gene

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Café-au-lait macules and intertriginous freckling in piebaldism : Clinical overlap with neurofibromatosis type 1 and Legius syndrome. / Stevens, Cathy A.; Chiang, Pei-Wen; Messiaen, Ludwine M.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 5, 05.2012, p. 1195-1199.

Research output: Contribution to journalArticle

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