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

Jun Hyo Lee; Jiwon Lee; Dae Hun Suh

doi:10.5021/ad.22.131

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

Ann Dermatol. 2023 Nov;35(Suppl 2):S314-S316. doi: 10.5021/ad.22.131.

Authors

Jun Hyo Lee^{1

2}, Jiwon Lee¹, Dae Hun Suh^{1

3}

Affiliations

¹ Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea.
² Acne, Rosacea, Seborrheic Dermatitis and Hidradenitis Suppurativa Research Laboratory, Seoul National University Hospital, Seoul, Korea.
³ Acne, Rosacea, Seborrheic Dermatitis and Hidradenitis Suppurativa Research Laboratory, Seoul National University Hospital, Seoul, Korea. daehun@snu.ac.kr.

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.

Keywords: Dent disease 2; Hidradenitis suppurativa; Lowe syndrome; Mutation; OCRL gene.

Publication types

Case Reports