A Case of Hidradenitis Suppurativa in a Genetically Confirmed Lowe Syndrome Patient
- Author:
Jun Hyo LEE
1
;
Jiwon LEE
;
Dae Hun SUH
Author Information
- Publication Type:Case Report
- From:Annals of Dermatology 2023;35(Suppl2):S314-S316
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
