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A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC).
Nunes, Beatriz Azevedo; Romano, Ana Karolina Ferreira Gonçalves; Pasa Morgan, Mariana Aparecida; Gonçalves, Alice Andrade; Cardozo, Laís Faria Masulk; de Almeida, Luiz Gustavo Dufner; Haddad, Luciana Amaral; Crippa, Ana Chrystina de Souza; Antoniuk, Sergio Antonio; Abagge, Kerstin Taniguchi.
Afiliación
  • Nunes BA; Department of Pediatrics, Universidade Federal do Paraná, Curitiba, PR, Brazil.
  • Romano AKFG; Department of Pediatrics, Universidade Federal do Paraná, Curitiba, PR, Brazil.
  • Pasa Morgan MA; Department of Pediatrics, Universidade Federal do Paraná, Curitiba, PR, Brazil; Postgraduate Program in Child and Adolescent Health, Complexo Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.
  • Gonçalves AA; Department of Pediatrics, Universidade Federal do Paraná, Curitiba, PR, Brazil.
  • Cardozo LFM; Postgraduate Program in Child and Adolescent Health, Complexo Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.
  • de Almeida LGD; Department of Genetics and Evolutionary Biology, Centro de Pesquisa do Genoma Humano e Células-Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.
  • Haddad LA; Department of Genetics and Evolutionary Biology, Centro de Pesquisa do Genoma Humano e Células-Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.
  • Crippa ACS; Department of Pediatrics, Universidade Federal do Paraná, Curitiba, PR, Brazil.
  • Antoniuk SA; Department of Pediatrics, Universidade Federal do Paraná, Curitiba, PR, Brazil.
  • Abagge KT; Department of Pediatrics, Universidade Federal do Paraná, Curitiba, PR, Brazil. Electronic address: kerstinabagge@gmail.com.
An Bras Dermatol ; 99(5): 662-669, 2024.
Article en En | MEDLINE | ID: mdl-38658236
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 81. 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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esclerosis Tuberosa / Proteína 1 del Complejo de la Esclerosis Tuberosa / Proteína 2 del Complejo de la Esclerosis Tuberosa Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: An Bras Dermatol Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: España
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esclerosis Tuberosa / Proteína 1 del Complejo de la Esclerosis Tuberosa / Proteína 2 del Complejo de la Esclerosis Tuberosa Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: An Bras Dermatol Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: España