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Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy.

作者信息

Eriksson Daniel, Gyll David, Virtanen Marie, Dahl Niklas, Klar Joakim, Stattin Eva-Lena

机构信息

Department of Immunology, Genetics and Pathology, Uppsala University and University Hospital, Section of Clinical Genetics, Uppsala, Sweden.

Svartbäcken Health Centre, Region Uppsala, Uppsala, Sweden.

出版信息

JAAD Case Rep. 2022 Dec 1;31:133-136. doi: 10.1016/j.jdcr.2022.11.025. eCollection 2023 Jan.

DOI:10.1016/j.jdcr.2022.11.025
PMID:36583142
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9792292/
Abstract
摘要

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JAAD Case Rep. 2022 Dec 1;31:133-136. doi: 10.1016/j.jdcr.2022.11.025. eCollection 2023 Jan.
2
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations.由 15-PGHD/HPGD 功能丧失突变引起的原发性肥大性骨关节病伴杵状指（趾）和手掌足底多汗症。
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本文引用的文献

1
A novel mutation in the gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis.该基因中的一种新突变导致了伴有杵状指和多汗症的掌跖角化病这一异常表型。
JAAD Case Rep. 2018 Oct 12;4(9):950-952. doi: 10.1016/j.jdcr.2018.07.007. eCollection 2018 Oct.
2
A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.9例原发性肥厚性骨关节病患者HPGD基因的一个常见突变和一个新突变
Calcif Tissue Int. 2015 Oct;97(4):336-42. doi: 10.1007/s00223-015-0024-3. Epub 2015 Jul 2.
3
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations.
由 15-PGHD/HPGD 功能丧失突变引起的原发性肥大性骨关节病伴杵状指（趾）和手掌足底多汗症。
Exp Dermatol. 2011 Jun;20(6):531-3. doi: 10.1111/j.1600-0625.2011.01248.x. Epub 2011 Mar 23.
4
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.一个新型的 HPGD 基因的纯合剪接位点突变导致轻度原发性肥大性骨关节病。
Clin Exp Rheumatol. 2010 Mar-Apr;28(2):153-7. Epub 2010 May 13.
5
Age-related changes in skull uptake on bone scintigraphy: a quantitative study.
Nucl Med Rev Cent East Eur. 2008;11(2):67-9.
6
Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).编码NAD⁺依赖性15-羟基前列腺素脱氢酶的HPGD基因突变是孤立性先天性杵状指（ICNC）的基础。
J Med Genet. 2009 Jan;46(1):14-20. doi: 10.1136/jmg.2008.061234. Epub 2008 Sep 19.
7
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.15-羟基前列腺素脱氢酶突变导致原发性肥大性骨关节病。
Nat Genet. 2008 Jun;40(6):789-93. doi: 10.1038/ng.153. Epub 2008 May 25.
8
Pachydermoperiostosis: an update.厚皮性骨膜病：最新进展
Clin Genet. 2005 Dec;68(6):477-86. doi: 10.1111/j.1399-0004.2005.00533.x.
9
Keratoderma palmaris et plantaris with clubbing and skeletal deformity of the terminal phalanges of the hands and feet. Report of findings in two sisters.伴有手足末节指（趾）骨杵状膨大及骨骼畸形的掌跖角化病。两姐妹病例报告。
Acta Derm Venereol. 1972;52(4):278-80.