AI Article Synopsis
- Piebaldism is a rare genetic disorder characterized by congenital leukoderma due to a mutation in a specific proto-oncogene receptor tyrosine kinase.
- A 10-year-old boy was diagnosed with piebaldism after presenting with depigmented macules, café au lait macules, and skin fold freckling, which complicated the diagnosis.
- Exome sequencing confirmed the diagnosis by identifying a pathogenic variant, enhancing our understanding of the tyrosine kinase function, and clarifying that these symptoms do not imply an overlap with Neurofibromatosis type 1.
Article Abstract
Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in proto-oncogene receptor tyrosine kinase. We present a 10-year-old boy with congenital depigmented macules suggestive of piebaldism associated with café au lait macules and skin fold freckling complicating the diagnosis. A diagnosis of piebaldism was made via exome sequencing that showed a pathogenic variant of gene with no pathogenic variants of or gene. Our current understanding of the tyrosine kinase function may provide a better explanation into this phenotypic coexistence and does not necessarily represent an overlap with Neurofibromatosis type 1.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115335 | PMC |
| http://dx.doi.org/10.4103/idoj.idoj_368_22 | DOI Listing |
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