%0 Journal Article
%T A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC).
%A Nunes BA
%A Romano AKFG
%A Pasa Morgan MA
%A Gonçalves AA
%A Cardozo LFM
%A de Almeida LGD
%A Haddad LA
%A Crippa ACS
%A Antoniuk SA
%A Abagge KT
%J An Bras Dermatol
%V 0
%N 0
%D 2024 Apr 23
%M 38658236
%F 2.113
%R 10.1016/j.abd.2023.11.004
%X <B>BACKGROUND: </B>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.<BR><B>OBJECTIVE: </B>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.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>Small sample and a limited number of patients with TSC1 pathogenic variants.<BR><B>CONCLUSIONS: </B>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.