A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC)
Abstract Background Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also s...
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Sociedade Brasileira de Dermatologia
2024-09-01
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| Series: | Anais Brasileiros de Dermatologia |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962024000500662&lng=en&tlng=en |
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| author | Beatriz Azevedo Nunes Ana Karolina Ferreira Gonçalves Romano Mariana Aparecida Pasa Morgan Alice Andrade Gonçalves Laís Faria Masulk Cardozo Luiz Gustavo Dufner de Almeida Luciana Amaral Haddad Ana Chrystina de Souza Crippa Sergio Antonio Antoniuk Kerstin Taniguchi Abagge |
| author_facet | Beatriz Azevedo Nunes Ana Karolina Ferreira Gonçalves Romano Mariana Aparecida Pasa Morgan Alice Andrade Gonçalves Laís Faria Masulk Cardozo Luiz Gustavo Dufner de Almeida Luciana Amaral Haddad Ana Chrystina de Souza Crippa Sergio Antonio Antoniuk Kerstin Taniguchi Abagge |
| author_sort | Beatriz Azevedo Nunes |
| collection | DOAJ |
| description | Abstract Background Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria. TSC-associated skin lesions in infancy are important clinical signs to select individuals with possible TSC for a closer clinical follow-up and genetic testing. Objective To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations. Methods Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months. Results The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas. Study limitations Small sample and a limited number of patients with TSC1 pathogenic variants. Conclusion Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described. |
| format | Article |
| id | doaj-art-adabe6d2d02a486d81a79eba21b7bddf |
| institution | OA Journals |
| issn | 0365-0596 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | Sociedade Brasileira de Dermatologia |
| record_format | Article |
| series | Anais Brasileiros de Dermatologia |
| spelling | doaj-art-adabe6d2d02a486d81a79eba21b7bddf2025-08-20T01:54:30ZengSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia0365-05962024-09-0199566266910.1016/j.abd.2023.11.004A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC)Beatriz Azevedo Nuneshttps://orcid.org/0000-0001-8057-0799Ana Karolina Ferreira Gonçalves Romanohttps://orcid.org/0000-0002-5298-8917Mariana Aparecida Pasa Morganhttps://orcid.org/0000-0002-2667-3540Alice Andrade Gonçalveshttps://orcid.org/0000-0001-7449-1197Laís Faria Masulk Cardozohttps://orcid.org/0000-0002-8674-4152Luiz Gustavo Dufner de Almeidahttps://orcid.org/0000-0003-0831-0380Luciana Amaral Haddadhttps://orcid.org/0000-0003-1043-8981Ana Chrystina de Souza Crippahttps://orcid.org/0000-0001-6669-7312Sergio Antonio Antoniukhttps://orcid.org/0000-0002-0678-3339Kerstin Taniguchi Abaggehttps://orcid.org/0000-0002-9824-2459Abstract Background Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria. TSC-associated skin lesions in infancy are important clinical signs to select individuals with possible TSC for a closer clinical follow-up and genetic testing. Objective To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations. Methods Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months. Results The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas. Study limitations Small sample and a limited number of patients with TSC1 pathogenic variants. Conclusion Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962024000500662&lng=en&tlng=enGenetic diseasesNeurocutaneous syndromesTuberous sclerosis complexTuberous Sclerosis Complex 1 geneTuberous Sclerosis Complex 2 gene |
| spellingShingle | Beatriz Azevedo Nunes Ana Karolina Ferreira Gonçalves Romano Mariana Aparecida Pasa Morgan Alice Andrade Gonçalves Laís Faria Masulk Cardozo Luiz Gustavo Dufner de Almeida Luciana Amaral Haddad Ana Chrystina de Souza Crippa Sergio Antonio Antoniuk Kerstin Taniguchi Abagge A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC) Anais Brasileiros de Dermatologia Genetic diseases Neurocutaneous syndromes Tuberous sclerosis complex Tuberous Sclerosis Complex 1 gene Tuberous Sclerosis Complex 2 gene |
| title | A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC) |
| title_full | A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC) |
| title_fullStr | A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC) |
| title_full_unstemmed | A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC) |
| title_short | A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC) |
| title_sort | dermatological assessment of pediatric patients with tuberous sclerosis complex tsc |
| topic | Genetic diseases Neurocutaneous syndromes Tuberous sclerosis complex Tuberous Sclerosis Complex 1 gene Tuberous Sclerosis Complex 2 gene |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962024000500662&lng=en&tlng=en |
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