A large family with CYLD cutaneous syndrome: medical genetics at the community level

Abstract

Germline mutations in the cylindromatosis gene (CYLD) are associated with a rare autosomal dominant disease known as CYLD cutaneous syndrome (CCS). Patients present multiple neoplasms originating from skin appendages. Here, we investigated the main clinical and molecular features of a large family with CCS having lived in a small Brazilian town for 6 generations, making its prevalence significantly high. We observed a predominance of the disease among males and a wide phenotypic variation. A high frequency of basal cell carcinomas among affected people was found. The mutation c.2806C>T, p.Arg936* in the CYLD gene was detected in all patients. In this work, a geographical cluster of CCS was found, which raised some community genetics issues related not only to the high prevalence of a rare disease in a limited area but also to the strong social stigma associated with the disease.

Genetic Testing in CYLD Cutaneous Syndrome: An Update

“…In a recent study of a South American family with CCS, BCC was reported in 25% of affected patients. 35…”

CYLD‐related cutaneous syndrome: variable p.Pro482fs*6 phenotype in five individuals from two unrelated families

“…D. Carton de Tournai, 1,2,* I. Vandernoot, 1,3 M. Marangoni, 3 D. Faverly, 4 M. Diaz, 5 A. Casagranda, 1 E. Berlingin, 1 L. Van Maldergem 6,7…”

Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge

“…Still, studies have pointed to a strong burden of stigma and prejudice, which adds to the uneven distribution of other social and health vulnerabilities in its territory ( Maia et al, 2015 ; Marçon et al, 2020 ; Brasil, 2021 ). This situation tends to be even more sensitive in geographically isolated areas with a high frequency of albinism, considering that clusters of genetic conditions (especially conditions with a visible, disfiguring phenotype) are places constantly surrounded by myths and beliefs and where there is not always all the necessary health services for comprehensive, timely health care ( Pereira, 2005 ; Arruda et al, 2020 ; Cardoso-dos-Santos et al, 2020 ).…”