Pachydermoperiostosis (Touraine-Solente-Gole Syndrome): a Case Report

Overview

Journal J Med Case Rep

Publisher Biomed Central

Specialty General Medicine

Date 2019 Feb 22

PMID 30786934

Citations 8

Authors

Amir Joshi

Gaurav Nepal

Yow Ka Shing

Hari Prasad Panthi

Suman Baral

Affiliations

Soon will be listed here.

Abstract

Background: Pachydermoperiostosis (PDP) is a rare disorder characterized by clubbing of the fingers, thickening of the skin (pachyderma), and excessive sweating (hyperhidrosis). It typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly. Clinical presentations of PDP can be confused with secondary hypertrophic osteoarthropathy, psoriatic arthritis, rheumatoid arthritis, thyroid acropachy, and acromegaly.

Case Presentation: A Mongolian male, aged 19 years, resident of a hilly district of Nepal, with history of consanguinity, presented to our outpatient department with chief complaints of pain and swelling in both hands and feet for 6 years. The pain was insidious in onset, throbbing in nature, and not relieved by over-the-counter medications. The patient also complained of profuse sweating, progressive enlargement of hands and feet, and gradual coarsening of facial features. On examination there were marked skin folds in the forehead, face, and eyelids. Clubbing and swelling of bilateral knee joints and ankle joints was also evident. He was subsequently investigated extensively for acromegaly. Insulin-like growth factor-1 level and oral glucose tolerance test were normal. Radiography of various bones showed periosteal hypertrophy with subperiosteal bone formation.

Conclusions: PDP should be considered as a differential diagnosis when a patient presents with hypertrophic osteoarthropathy and acromegalic features.

Citing Articles

Foot, Toe, and Nail Changes: Are They Interdependent?.

Haneke E Skin Appendage Disord. 2024; 10(5):402-414.

PMID: 39386302 PMC: 11460839. DOI: 10.1159/000538531.

Pachydermoperiostosis and Work Restrictions: A Case Report.

Chinichian M, Asghari O, Safaie N, Kassiri N Cureus. 2023; 15(3):e36675.

PMID: 37101988 PMC: 10124987. DOI: 10.7759/cureus.36675.

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

Nakano Y, Ohata Y, Fujiwara M, Kubota T, Miyoshi Y, Ozono K Bone Rep. 2023; 18:101673.

PMID: 36968251 PMC: 10036882. DOI: 10.1016/j.bonr.2023.101673.

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.

Charoenngam N, Nasr A, Shirvani A, Holick M Genes (Basel). 2022; 13(10).

PMID: 36292765 PMC: 9601711. DOI: 10.3390/genes13101880.

Primary hypertrophic osteoarthropathy and bilateral transient lateral patellar dislocation in an adolescent.

Jeyabaladevan S, Astrinakis E, Callan M, Sookur P BJR Case Rep. 2022; 8(2):20210121.

PMID: 36177260 PMC: 9499439. DOI: 10.1259/bjrcr.20210121.

References

Jajic Z, Jajic I, Nemcic T . Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. Arch Med Res. 2001; 32(2):136-42. DOI: 10.1016/s0188-4409(01)00251-x. View

VOGL A, Goldfischer S . Pachydermoperiostosis. Primary or idiopathic hypertrophic osteoarthropathy. Am J Med. 1962; 33:166-87. DOI: 10.1016/0002-9343(62)90016-5. View

Lowenthal M, Tombak A, Lowenthal A . Secondary hypertrophic osteoarthropathy (HOA) mimicking primary HOA (pachydermoperiostitis or Touraine-Solente-Golé) syndrome. Isr Med Assoc J. 2004; 6(1):64. View

ANSELL B . Hypertrophic osteoarthropathy in the paediatric age. Clin Exp Rheumatol. 1992; 10 Suppl 7:15-8. View

Tai H, Cho H, Tong M, Ding Y . NAD+-linked 15-hydroxyprostaglandin dehydrogenase: structure and biological functions. Curr Pharm Des. 2006; 12(8):955-62. DOI: 10.2174/138161206776055958. View

Jojima H, Kinoshita K, Naito M . A case of pachydermoperiostosis treated by oral administration of a bisphosphonate and arthroscopic synovectomy. Mod Rheumatol. 2007; 17(4):330-2. DOI: 10.1007/s10165-007-0585-8. View

Uppal S, Diggle C, Carr I, Fishwick C, Ahmed M, Ibrahim G . Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet. 2008; 40(6):789-93. DOI: 10.1038/ng.153. View

Coggins K, Coffman T, Koller B . The Hippocratic finger points the blame at PGE2. Nat Genet. 2008; 40(6):691-2. DOI: 10.1038/ng0608-691. View

Kamoun-Goldrat A, Le Merrer M . Infantile cortical hyperostosis (Caffey disease): a review. J Oral Maxillofac Surg. 2008; 66(10):2145-50. DOI: 10.1016/j.joms.2007.09.007. View

10.

Yuksel-Konuk B, Sirmaci A, Ayten G, Ozdemir M, Aslan I, Yilmaz-Turay U . Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. Rheumatol Int. 2009; 30(1):39-43. DOI: 10.1007/s00296-009-0895-6. View

11.

Rana R, Wu J, Eisenberg R . Periosteal reaction. AJR Am J Roentgenol. 2009; 193(4):W259-72. DOI: 10.2214/AJR.09.3300. View

12.

Rastogi R, Suma G, Prakash R, Rastogi U, Bhargava S, Rastogi V . Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. Indian J Radiol Imaging. 2009; 19(2):123-6. PMC: 2765176. DOI: 10.4103/0971-3026.50829. View

13.

Matucci-Cerinic M, Lotti T, Jajic I, Pignone A, Bussani C, Cagnoni M . The clinical spectrum of pachydermoperiostosis (primary hypertrophic osteoarthropathy). Medicine (Baltimore). 1991; 70(3):208-14. DOI: 10.1097/00005792-199105000-00005. View

14.

Bergmann C, Wobser M, Morbach H, Falkenbach A, Wittenhagen D, Lassay L . Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. Exp Dermatol. 2011; 20(6):531-3. DOI: 10.1111/j.1600-0625.2011.01248.x. View

15.

Guerini M, Barbato M, Sa N, Nunes D, Zeni P . Pachydermoperiostosis: the complete form of the syndrome. An Bras Dermatol. 2011; 86(3):582-4. DOI: 10.1590/s0365-05962011000300027. View

16.

Zhang Z, Xia W, He J, Zhang Z, Ke Y, Yue H . Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet. 2011; 90(1):125-32. PMC: 3257902. DOI: 10.1016/j.ajhg.2011.11.019. View

17.

Lugo G, Pena L, Cordido F . Clinical manifestations and diagnosis of acromegaly. Int J Endocrinol. 2012; 2012:540398. PMC: 3296170. DOI: 10.1155/2012/540398. View

18.

Sasaki T, Niizeki H, Shimizu A, Shiohama A, Hirakiyama A, Okuyama T . Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. J Dermatol Sci. 2012; 68(1):36-44. DOI: 10.1016/j.jdermsci.2012.07.008. View

19.

Sasane A, Singh H, Kachewar S, Bhadane S . Pachydermoperiostosis. Med J Armed Forces India. 2016; 66(4):387-8. PMC: 4919825. DOI: 10.1016/S0377-1237(10)80027-9. View

20.

Guo T, Yang K, Liu L, Tan Z, Luo H . Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy. Mol Med Rep. 2017; 15(5):2977-2982. PMC: 5428898. DOI: 10.3892/mmr.2017.6391. View