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Waardenburg syndrome type 3

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.
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Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.

Pigment Cell Melanoma Res. 2017 May 15;:

Authors: Ogawa Y, Kono M, Akiyama M

Abstract
We report a patient with Waardenburg syndrome (WS) type 2 who had the unusual complication of large pigmented macules. Whole-exome sequencing revealed a previously unreported homozygous KITLG mutation to be the causative gene. KITLG defect is a rare cause of WS, with only one case having been reported previously. Interestingly, both the previously reported case and the present case had large pigmented macules (café-au-lait spots). Importantly, KITLG mutations are causative of another pigmentation disorder, namely familial progressive hyper- and hypopigmentation (FPHH), which may also be accompanied by pigmented macules. The KITLG mutation in the present case is adjacent to strikingly restricted hotspots of mutations causative of FPHH. Our thorough literature review revealed that large pigmented macules are a very rare symptom of WS, raising the possibility that WS caused by KITLG mutations may represent a hitherto unnoticed phenotypic subgroup. The present findings extend our knowledge of the KIT/KITLG system. This article is protected by copyright. All rights reserved.

PMID: 28504826 [PubMed - as supplied by publisher]

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