KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report
Fatimah Mohammad Budair Department of Dermatology, King Fahd University Hospital, Al Khobar, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi ArabiaCorrespondence: Fatimah Mohammad Budair, Department of Dermatology, King Fahd University Hospital, Al Khobar, College of Medic...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2024-03-01
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| Series: | Clinical, Cosmetic and Investigational Dermatology |
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| Online Access: | https://www.dovepress.com/kit-mutation-associated-with-depigmented-patches-regression-and-multip-peer-reviewed-fulltext-article-CCID |
| _version_ | 1797253652371472384 |
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| author | Budair FM |
| author_facet | Budair FM |
| author_sort | Budair FM |
| collection | DOAJ |
| description | Fatimah Mohammad Budair Department of Dermatology, King Fahd University Hospital, Al Khobar, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi ArabiaCorrespondence: Fatimah Mohammad Budair, Department of Dermatology, King Fahd University Hospital, Al Khobar, College of Medicine, Imam Abdulrahman bin Faisal University, Bashar Ibn Burd Street, Al Aqrabiyah 34445, Dammam, Saudi Arabia, Tel +00966503881480, Email fbudair@iau.edu.saAbstract: Piebaldism is a rare genetic disorder caused by KIT 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 KIT 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 KIT mutations for piebaldism etiology and presentation.Keywords: genotype, phenotype, melanocyte, autosomal, rare disease |
| first_indexed | 2024-04-24T21:37:28Z |
| format | Article |
| id | doaj.art-77c021972f4a43e2b9b9ed4fbd4435c4 |
| institution | Directory Open Access Journal |
| issn | 1178-7015 |
| language | English |
| last_indexed | 2024-04-24T21:37:28Z |
| publishDate | 2024-03-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Clinical, Cosmetic and Investigational Dermatology |
| spelling | doaj.art-77c021972f4a43e2b9b9ed4fbd4435c42024-03-21T17:06:43ZengDove Medical PressClinical, Cosmetic and Investigational Dermatology1178-70152024-03-01Volume 1771371691393KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case ReportBudair FMFatimah Mohammad Budair Department of Dermatology, King Fahd University Hospital, Al Khobar, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi ArabiaCorrespondence: Fatimah Mohammad Budair, Department of Dermatology, King Fahd University Hospital, Al Khobar, College of Medicine, Imam Abdulrahman bin Faisal University, Bashar Ibn Burd Street, Al Aqrabiyah 34445, Dammam, Saudi Arabia, Tel +00966503881480, Email fbudair@iau.edu.saAbstract: Piebaldism is a rare genetic disorder caused by KIT 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 KIT 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 KIT mutations for piebaldism etiology and presentation.Keywords: genotype, phenotype, melanocyte, autosomal, rare diseasehttps://www.dovepress.com/kit-mutation-associated-with-depigmented-patches-regression-and-multip-peer-reviewed-fulltext-article-CCIDgenotypephenotypemelanocyteautosomalrare disease |
| spellingShingle | Budair FM KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report Clinical, Cosmetic and Investigational Dermatology genotype phenotype melanocyte autosomal rare disease |
| title | KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report |
| title_full | KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report |
| title_fullStr | KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report |
| title_full_unstemmed | KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report |
| title_short | KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report |
| title_sort | kit mutation associated with depigmented patches regression and multiple caf eacute au lait macules development in a patient with piebaldism a case report |
| topic | genotype phenotype melanocyte autosomal rare disease |
| url | https://www.dovepress.com/kit-mutation-associated-with-depigmented-patches-regression-and-multip-peer-reviewed-fulltext-article-CCID |
| work_keys_str_mv | AT budairfm kitmutationassociatedwithdepigmentedpatchesregressionandmultiplecafeacuteaulaitmaculesdevelopmentinapatientwithpiebaldismacasereport |