Lack of cutis verticis gyrata is associated with c.1279_1290del12 of SLCO2A1 in 43 Japanese patients with pachydermoperiostosis

Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy (PHO), is a rare hereditary condition mainly characterized by clubbing of the digits, periostosis of long bones, pachydermia, and cutis verticis gyrata (CVG) [1]. Biallelic mutations in HPGD and SLCO2A1 disturb prostaglandin E2 (PGE2) catabolism, leading to increased circulating PGE2 levels and causing PHO autosomal recessive 1 (PHOAR1) and PHO autosomal recessive 2 (PHOAR2), respectively [2,3]. The two major clinical subtypes of PDP include a complete-form-type (Complete-PDP), characterized by the presence of CVG along with the three main features, and an incomplete-form-type (Incomplete-PDP), which lacks CVG [1].

Source: Journal of Dermatological Science - March 23, 2024 Category: Dermatology Authors: H Niizeki, R Tanaka, T Nomura, A Seki, M Miyasaka, Y Matsumoto, M Ishibashi, S Narumi, K Nakabayashi, K Yoshida Source Type: research