Pachydermoperiostosis - a case report

Authors

  • Rushma Shrestha National Academy of Medical Sciences, Bir Hospital, Kathmandu
  • Niraj Parajuli
  • Anupama Karki

Keywords:

Pachydermoperiostosis, cutis verticis gyrata, hyperhidrosis, clubbing

Abstract

Pachydermoperiostosis is a rare autosomal dominant condition but autosomal recessive families probably can also occur. At least two gene mutations have been implicated, namely HPGD and SLCO2A1. This condition usually presents at puberty with progressive enlargement of the joints due to pachydermia, periostosis, and clubbing. Disease progresses for 5–20 years before stabilizing. We describe a case of 22 year old male who presented with thickened skin on the face and scalp (resembling cutis verticis gyrata), palmoplantar hyperhidrosis and clubbing.

Author Biographies

Rushma Shrestha, National Academy of Medical Sciences, Bir Hospital, Kathmandu

 

Niraj Parajuli

 

Anupama Karki

 

References

Lovell CR. The skin and disorders of the musculoskeletal system. In: Griffiths C, Barker J, Bleiker T, Chalmers R, Creamer D (eds). Rooks Textbook of Dermatology. 9th ed. Oxford, UK: Wiley-Blackwell; 2016. p.154. 13-14.

Ko CJ. Dermal Hypertrophies and Benign Fibroblastic/Myofobtoblastic Tumors. In: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K (eds). Fitzpatrick’s Dermatology in General Medicine. 8th ed. US: McGraw-Hill; 2012. p.717.

Levine A.D, Mellerio I.E. Genetics and Genodermatoses: In : Burns T, Breathnach S, Cox N, Griffiths C Eds. Rook's Textbook of Dermatology.8th ed. Oxford, UK: Wiley-Blackwell; 2010; 15.1-97.

Karnan S, Krishnamoorthy V, Ethiraj P, Satyanathan BP. Touraine-Solente-Gole syndrome: The complete form needs to be recognized. Indian J Nucl Med. 2012; 27(3): 201–4.

Arikan S, Sen I, Bahceci M, Tuxcu A, Ayli M. An interesting case of pachydermoperiostosis with idiopathic myelofibrosis associated with monosomy 22. Int J Dermatol. 2009; 48 (8): 882-5.

Shivathapandi T, Amalachandran J, Simon S, Elangovan I. Incomplete form of Primary Hypertrophic Osteoarthropathy (Touraine-Solente-Gole Syndrome) Masquerading as Polyartrhalgia Diagnosed in Technetium-99m-Methylene Diphosphonate Scintigraphy: An Interesting Case Report. Indian J Nucl Med; 33(2): 128–131.

Atiase Y, Yorke E, Akpalu J, Opoku-Asare B, Adjei P, Amissah-Arthur MB et.al. Pachydermoperiostosis in a patient with chronic hepatitis B virus infection referred as acromegaly: a case report. J Med Case Rep. 2018; 12: 59.

Zhang H, Yang B. Successful treatment of pachydermoperiostosis patients with etoricoxib, aescin, and arthroscopic synovectomy. Medicine (Baltimore). 2017; 96(47).

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Published

2019-10-06

How to Cite

1.
Shrestha R, Parajuli N, Karki A. Pachydermoperiostosis - a case report. J Pak Assoc Dermatol [Internet]. 2019Oct.6 [cited 2024Jul.13];29(2):257-9. Available from: https://www.jpad.com.pk/index.php/jpad/article/view/1274

Issue

Section

Case Reports