AI Article Synopsis
- Piebaldism is a unique genetic condition marked by permanent light-colored patches on the skin due to mutations.* -
- The case discussed involves a patient whose depigmented patches diminished with age and developed multiple café-au-lait spots.* -
- A specific gene variant (c.1991-2A>G) was identified as a possible cause, offering insights into how genetic mutations relate to the symptoms of piebaldism.*
Article Abstract
Piebaldism is a rare genetic disorder caused by mutations and clinically characterized by fixed depigmented patches throughout the body. Herein, a case of piebaldism in which the depigmented patches regressed as the patient grew older, along with the development of multiple café-au-lait macules, is described. The likely pathogenic, heterozygous c.1991-2A>G variant was detected as the potential cause of this unusual piebaldism phenotype. This case provides new knowledge on genotype-phenotype correlation of mutations for piebaldism etiology and presentation.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961011 | PMC |
| http://dx.doi.org/10.2147/CCID.S449691 | DOI Listing |
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