Ann Dermatol.  2023 Nov;35(Suppl2):S314-S316. 10.5021/ad.22.131.

A Case of Hidradenitis Suppurativa in a Genetically Confirmed Lowe Syndrome Patient

• Lee JH
• Lee J
• Suh DH

• KMID: 2548881
• DOI: http://doi.org/10.5021/ad.22.131

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.

Keyword

Dent disease 2; Hidradenitis suppurativa; Lowe syndrome; Mutation; OCRL gene