X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome and telomere biology disorder, usullay consisting of a triad of oral leucoplakia, dystrophic nails, reticular skin pigmentation. The diagnosis in the majority of cases can be made following all the clinical findings of this...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-01-01
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| Series: | Indian Journal of Dermatology |
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| Online Access: | https://journals.lww.com/10.4103/ijd.ijd_556_23 |
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| author | Ayse Oktem Pelin Kocyigit Timur Tuncalı Ulviyye Kahraman Sumeyra Ozbolat |
| author_facet | Ayse Oktem Pelin Kocyigit Timur Tuncalı Ulviyye Kahraman Sumeyra Ozbolat |
| author_sort | Ayse Oktem |
| collection | DOAJ |
| description | Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome and telomere biology disorder, usullay consisting of a triad of oral leucoplakia, dystrophic nails, reticular skin pigmentation. The diagnosis in the majority of cases can be made following all the clinical findings of this triad are established. Here we report 7 years-old boy who had oral leukoplakia and nail abnormality without skin involvement, associated with bone marrow failure diagnosed with X-linked DC due to dyskerin (DKC1) mutation. Our report emphasizes the fact that clinical suspicion can prevent fatal consequences since all manifestations may not always be seen collectively. |
| format | Article |
| id | doaj-art-86e1c897d8034bb482a51aba501d0af0 |
| institution | Kabale University |
| issn | 0019-5154 1998-3611 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Dermatology |
| spelling | doaj-art-86e1c897d8034bb482a51aba501d0af02025-01-20T10:36:27ZengWolters Kluwer Medknow PublicationsIndian Journal of Dermatology0019-51541998-36112024-01-0169110610610.4103/ijd.ijd_556_23X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine GeneAyse OktemPelin KocyigitTimur TuncalıUlviyye KahramanSumeyra OzbolatDyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome and telomere biology disorder, usullay consisting of a triad of oral leucoplakia, dystrophic nails, reticular skin pigmentation. The diagnosis in the majority of cases can be made following all the clinical findings of this triad are established. Here we report 7 years-old boy who had oral leukoplakia and nail abnormality without skin involvement, associated with bone marrow failure diagnosed with X-linked DC due to dyskerin (DKC1) mutation. Our report emphasizes the fact that clinical suspicion can prevent fatal consequences since all manifestations may not always be seen collectively.https://journals.lww.com/10.4103/ijd.ijd_556_23dyskeratosis congenitadystrophic nailsoral leucoplakia |
| spellingShingle | Ayse Oktem Pelin Kocyigit Timur Tuncalı Ulviyye Kahraman Sumeyra Ozbolat X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene Indian Journal of Dermatology dyskeratosis congenita dystrophic nails oral leucoplakia |
| title | X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene |
| title_full | X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene |
| title_fullStr | X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene |
| title_full_unstemmed | X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene |
| title_short | X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene |
| title_sort | x linked dyskeratosis congenita case with mutation 1058c t p ala353val in dyskerine gene |
| topic | dyskeratosis congenita dystrophic nails oral leucoplakia |
| url | https://journals.lww.com/10.4103/ijd.ijd_556_23 |
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