A Case of Hidradenitis Suppurativa in a Genetically Confirmed Lowe Syndrome Patient
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Lowe syndrome (LS), also known as oculocerebrorenal syndrome, is an X-linked multisys- temic disorder caused by mutations in OCR L1, 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 sup- purativa (HS) occurrence in Dent disease 2 (DD2), which is a mild variant of LS and shares the OCR L1 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 OCR L1 gene may contribute to HS pathogenesis.
Abstract
Lowe syndrome (LS), also known as oculocerebrorenal syndrome, is an X-linked multisys- temic disorder caused by mutations in OCR L1, 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 sup- purativa (HS) occurrence in Dent disease 2 (DD2), which is a mild variant of LS and shares the OCR L1 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 OCR L1 gene may contribute to HS pathogenesis.
참고문헌 (11)
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