Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Alternative Names

  • PHO, Autosomal Dominant
  • Pachydermoperiostosis, Autosomal Dominant
  • PDP, Autosomal Dominant
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WHO-ICD-10 version:2010

Diseases of the musculoskeletal system and connective tissue

Osteopathies and chondropathies

OMIM Number

167100

Mode of Inheritance

Autosomal dominant; ? heterogeneity

Description

Pachydermoperiostosis is a rare developmental defect, first described by Friedreich in 1868 and recognized later in 1935 by Touraine, Solente and Golé as a familial disorder with three forms: complete (periostosis and pachydermia), incomplete (without pachydermia) and the forme fruste (pachydermia with minimal skeletal changes). It is inherited in an autosomal dominant fashion with variable expressivity and penetrance; autosomal recessive forms have also been reported. It is characterized by digital clubbing, cylindrical thickening of the legs and forearms, hyperhydrosis, sebaceous gland over activity and symmetrical irregular periosteal ossification predominantly affecting the distal ends of long bones. The syndrome is associated with thickening and furrowing of the facial features, deep nasolabial folds, a corrugated scalp, and often greasy skin of the face and the scalp.

Pachydermoperiostosis usually begins soon after puberty, progresses for five to ten years, and remains unchanged throughout life. The syndrome has a pronounced predilection for males, with a male to female ratio of 7:1.

Epidemiology in the Arab World

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Other Reports

Egypt

Al-Emadi and Mehdi (2006) described two unrelated male Egyptian patients in Qatar who were diagnosed with pachydermoperiostosis. One of them was a 21-year old man who presented with progressive enlargement of hands and feet, associated with joint pain, swelling, and excessive sweating. Physical examination showed a greasy thick skin, coarse facial features with deep nasolabial folds, furrowing of the scalp, partial ptosis of the eye, large joints, tender with effusion, and severe clubbing of all fingers and toes. The second patient was 27-years old and presented with complaints of joint pain and swelling of knees and ankles. Physical examination produced results similar to the first patient. Laboratory investigations were normal for both patients, while X-ray studies revealed widening of joint. There was no family history of pachydermoperiostosis in either of the patients, although the second patient reported that his uncle had large joints like himself. However, his uncle was not available for examination.

[Al Emadi S, Mehdi S. Pachydermoperiostosis: Report of two cases. Qatar Med J. 2006; 15(1):72-4.]

Qatar

[See: Egypt > Al-Emadi and Mehdi, 2006]

Tunisia

Until year 1977, two cases of pachydermoperiostosis have been reported in the Tunisian population (Haddad et al., 1977).

United Arab Emirates

Afify el al. (1986) reported the case of a 27 year old United Arab Emirates national male patient, consulting for pain over the body, easy fatigability, flatulent dyspepsia, and facial, hand and feet appearances which had been coarsening for the last 10 years. The patient was born to consanguineous parents and was the only member of the family affected. Clinical examination revealed thickening and folding of the skin of his face, eyelids were thick with folds and furrows, hands and feet were spade-like with marked clubbing of both fingers and toes, skin was rough on the palms and soles with hyperhidrosis, and arms and legs were cylindrical. Skeletal x-rays showed proliferative periostitis especially in the diaphyses of tibia, fibula, radius and ulna of the long bones. The metacarpal, metatarsal and proximal phalanges showed the same periosteal thickening, as well as some thickening of the bone cortex. Afify el al. (1986) suggested that this characteristic is a case of primary pachydermoperiostosis.

[Afify H, Al Rubaie S, Hussain A. Touraine-Solente-Gole syndrome (Primary pachydermoperiostosis). Emirates Med J. 1986; 4:219-22.]

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