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      A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly

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          Abstract

          Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. We describe a Japanese male patient with PDP who was differentially diagnosed with acromegaly by identification of compound heterozygous variants in SLCO2A1. Recent studies have reported various clinical manifestations, as well as skeletal and dermal features, in patients with PDP. Genetic testing provided not only PDP diagnosis and differentiation from acromegaly, but also information about possible complications and comorbidities throughout life.

          Highlights

          • •

            Genetic testing can differentiate PDP from other diseases with common symptoms.

          • •

            Not only dermal and skeletal symptoms but also anemia or gastrointestinal symptoms are observed in patients with PDP.

          • •

            Synovectomy was effective for joint symptoms and hydrarthrosis in this patient.

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          Most cited references21

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          Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.

          Sandeep Uppal, Christine Diggle, Ian M. Carr … (2008)
          Digital clubbing, recognized by Hippocrates in the fifth century BC, is the outward hallmark of pulmonary hypertrophic osteoarthropathy, a clinical constellation that develops secondary to various acquired diseases, especially intrathoracic neoplasm. The pathogenesis of clubbing and hypertrophic osteoarthropathy has hitherto been poorly understood, but a clinically indistinguishable primary (idiopathic) form of hypertrophic osteoarthropathy (PHO) is recognized. This familial disorder can cause diagnostic confusion, as well as significant disability. By autozygosity methods, we mapped PHO to chromosome 4q33-q34 and identified mutations in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase, the main enzyme of prostaglandin degradation. Homozygous individuals develop PHO secondary to chronically elevated prostaglandin E(2) levels. Heterozygous relatives also show milder biochemical and clinical manifestations. These findings not only suggest therapies for PHO, but also imply that clubbing secondary to other pathologies may be prostaglandin mediated. Testing for HPGD mutations and biochemical testing for HPGD deficiency in patients with unexplained clubbing might help to obviate extensive searches for occult pathology.
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            Standardized centile curves and reference intervals of serum insulin-like growth factor-I (IGF-I) levels in a normal Japanese population using the LMS method.

            Tsuyoshi Isojima, Akira Shimatsu, Susumu Yokoya … (2012)
            Measurements of insulin-like growth factor-I (IGF-I) are useful not only for diagnosis and management of patients with growth hormone (GH)-related disorders but also for assessing nutritional status. We reported population-based references of serum IGF-I in 1996. However, they did not properly reflect data in the transition period from puberty to maturity. The aim of the present study was to re-establish a set of normative data for IGF-I for the Japanese population. The study included 1,685 healthy Japanese subjects (845 males, 840 females) from 0 to 83 years old. Subjects suffering from diseases that could affect IGF-I levels were excluded. Obese or extremely thin adult subjects were also excluded. IGF-I concentrations were determined by commercially available immunoradiometric assays. The reference intervals were calculated using the LMS method. Median IGF-I levels reached 310 ng/mL in males at the age of 14 years and 349 ng/mL in females at the age of 13 years, falling to 124 ng/mL and 103 ng/mL, respectively, by the age of 70 years. The mean pretreatment IGF-1 SD scores in patients with severe GH deficiency (GHD) obtained from the database of the Foundation for Growth Science and from clinical studies for adult GHD were -2.1±1.6 and -4.9±2.5, respectively. The present study established age- and gender-specific normative IGF-I data for the Japanese population and showed the utility of these references for screening patients with severe GHD.
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              Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy.

              Zhenlin Zhang, Weibo Xia, Jinwei He … (2012)
              By using whole-exome sequencing, we identified a homozygous guanine-to-adenine transition at the invariant -1 position of the acceptor site of intron 1 (c.97-1G>A) in solute carrier organic anion transporter family member 2A1 (SLCO2A1), which encodes a prostaglandin transporter protein, as the causative mutation in a single individual with primary hypertrophic osteoarthropathy (PHO) from a consanguineous family. In two other affected individuals with PHO from two unrelated nonconsanguineous families, we identified two different compound heterozygous mutations by using Sanger sequencing. These findings confirm that SLCO2A1 mutations inactivate prostaglandin E(2) (PGE(2)) transport, and they indicate that mutations in SLCO2A1 are the pathogenic cause of PHO. Moreover, this study might also help to explain the cause of secondary hypertrophic osteoarthropathy.
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                Author and article information

                Contributors
                Yasuhisa Ohata
                Journal
                Journal ID (nlm-ta): Bone Rep
                Journal ID (iso-abbrev): Bone Rep
                Title: Bone Reports
                Publisher: Elsevier
                ISSN (Electronic): 2352-1872
                Publication date PMC-release: 16 March 2023
                Publication date Collection: June 2023
                Publication date (Electronic): 16 March 2023
                Volume: 18
                Electronic Location Identifier: 101673
                Affiliations
                [a ]Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan
                [b ]Faculty of Health and Nutrition, Osaka Shoin Women's University, Higashi-Osaka 577-8550, Japan
                Author notes
                Article
                Publisher Item ID: S2352-1872(23)00021-9 Publisher ID: 101673
                DOI: 10.1016/j.bonr.2023.101673
                PMC ID: 10036882
                SO-VID: 2114ad64-e392-48eb-9171-e4ede6bbee27
                Copyright © © 2023 The Authors
                License:

                This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

                History
                Date received : 1 February 2023
                Date revision received : 14 March 2023
                Date accepted : 15 March 2023
                Categories
                Subject: Case Report

                Keywords: pachydermoperiostosis,acromegaly,hydrarthrosis,prostaglandin transporter variant
                Data availability:
                Keywords: pachydermoperiostosis, acromegaly, hydrarthrosis, prostaglandin transporter variant

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