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PubMed RSS Feed - -A Case of Hidradenitis Suppurativa in a Genetically Confirmed Lowe Syndrome Patient


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


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.

PMID:38061729 | DOI:10.5021/ad.22.131

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