%0 Case Reports
%T A Case of Hidradenitis Suppurativa in a Genetically Confirmed Lowe Syndrome Patient.
%A Lee JH
%A Lee J
%A Suh DH
%J Ann Dermatol
%V 35
%N 0
%D 2023 Nov
%M 38061729
%F 0.722
%R 10.5021/ad.22.131
%X Lowe syndrome (LS), also known as oculocerebrorenal syndrome, is an X-linked multisystemic disorder caused by mutations in OCRL1, which encodes a member of the inositol-5-phosphatase family. As implied by its name, congenital cataracts, defects in the central nervous system, and renal manifestations are the main symptoms. Early hidradenitis suppurativa (HS) occurrence in Dent disease 2 (DD2), which is a mild variant of LS and shares the OCRL1 gene mutation, has been reported, although not in LS patients. Here, we report a case of HS in a 17-year-old boy with genetically confirmed LS, which suggests that defects in the OCRL1 gene may contribute to HS pathogenesis.