Rheumatol Int (2012) 32:607–610 DOI 10.1007/s00296-010-1667-z
ORIGINAL ARTICLE
Primary hypertrophic osteoarthropathy Hadi Poormoghim • Aref Hosseynian Aryan Javadi
•
Received: 31 May 2010 / Accepted: 14 November 2010 / Published online: 2 December 2010 Ó Springer-Verlag 2010
Abstract Pachydermoperiostosis PDP (idiopathic or primary hypertrophic osteoarthropathy) is a rare congenital disease that inherited in an autosomal fashion. The disease is more common in males and develops gradually from adulthood. The disease is characterized by coarse facial features, clubbing of the fingers and radiographic periostitis of the distal long bones. The patient was a 37-year-old man with acroosteolysis and digital clubbing of hands and feet fingers and lion facies.
Very often, there is a history of arthralgia of the ankles, knees, wrists, elbows and occasionally the small joints. Most likely this pain does not originate from the joints per se, but rather is caused by active inflammation of the periosteum. Typically, these rheumatologic symptoms disappear when the periostitis is arrested [3].
Keywords Pachydermoperiostosis Primary hypertrophic osteoarthropathy Digital clubbing Acroosteolysis
The patient is a 37-year-old Iranian man had initially presented to the rheumatology department of Firozgar Hospital due to pain and deformity of terminal phalanx. Starting at the age of 11 he gradually developed severe acne on face and clubbing of fingers. He underwent a plastic surgical procedure for revision of scars on his face caused by acne. He was also complaining of hyperhidrosis of the hands, a symptom that had been present since adolescence. The patient mentioned that since 5 years ago, he developed pain and shortening of distal phalanx. On physical examination, the patient was noted to have hypertrophic skin changes (pachydermia) affecting his face, associated with furrowing and oiliness of the skin of the face (Fig. 1). Sites of surgical incisions were present anterior to both ears (Fig. 2). There was no evidence of thickening or furrowing of the scalp. On musculoskeletal examination, hyperlaxity of finger joints, clubbing of nails and shortening of terminal phalanx of hands and feet were seen (Figs. 3, 4). The patient had total dental loss before age twenty, which had started at the age of 10 (Fig. 5). Roentgenograms of the hands (Fig. 6) disclosed extensive erosion of all the distal phalanges, widening of the epiphysis, and skull X-ray revealed poorly developed frontal sinuses (Fig. 7).
Introduction Pachydermoperiostosis PDP is a disorder first described in 1868 by Friedreich [1]. It is a rare disease that is inherited in an autosomal dominant fashion. It is more common and more severe in males [2]. Idiopathic or primary hypertrophic osteoarthropathy should be distinguished from secondary or pulmonary hypertrophic osteoarthropathy, the etiology of which is unknown. This syndrome is characterized by clubbing of the digits; coarsening of the facial features; furrowing and oiliness of the skin of the face; and marked furrowing of the scalp (cutis verticis gyrata). Acroosteolysis is not a rare complication and may affect the terminal phalanges of fingers and toes. H. Poormoghim (&) A. Hosseynian A. Javadi F. Sodagari University of Medical Sciences and Health Care Services, Tehran, Iran e-mail:
[email protected]
Case report
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Fig. 1 Hypertrophic skin changes (pachydermia) affecting his face, associated with furrowing of the skin of the face
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Fig. 4 Shortening of terminal phalanx of hands
clubbing and pachydermia with minimal or absent periostitis, but with minimal or absent periosteal changes. In our case report, patient’s clinical and radiographic finding is suggestive of incomplete form of PDP, in which scalp spared. Clinical features Skin
Fig. 2 Sites of surgical incisions were present anterior to both ears
Facial involvement includes thickening of facial skin and cheeks and scalp [5], prominent folds on forehead (cutis verticis gyrata) [6], which is the most striking feature of this syndrome, and oiliness of the skin of the face, due to overactive sebaceous glands; sometimes folliculitis and acneform rash [7]. In this case, our patient had received plastic surgery for severe acne. Hyperhidrosis of the hands and feet is also another common finding [8]. Joints
Fig. 3 Hyperlaxity of finger joints, clubbing of nails
Roentgenograms of the feet showed similar changes in toes as in the phalanges.
Characteristics of the syndrome are clubbing of the digits, non-inflammatory polyarthritis usually at knee reported [9]. As seen in our case, acroosteolysis of terminal phalanges of fingers and toes is not a rare complication [3]. Periosteitis of long bones, especially forearm and leg, and small bones of metacarpals, metatarsals and phalanges has been reported [7]. Others
Discussion
Spare facial and pubic hair, gynecomastia [10], periodontal disease [11] have been described.
History and definition, classification of disease
Complications
In 1953, Touraine and Solente described three forms of this condition [4]: (1) the complete form, with pachydermia and pachyperiostosis (2) the incomplete form, in which the scalp is not involved; and (3) a forme fruste, characterized by
Avascular necrosis of head of femur [12], carpal or tarsal tunnel syndrome secondary to periosteal opposition or megaepiphysis and rarely spinal or nerve root compression are reported [7].
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Fig. 5 Total dental loss, which had started at the age of 10
Fig. 6 Extensive erosion of all the distal phalanges, widening of the epiphysis Fig. 7 Skull X-ray revealed poorly developed frontal sinuses
Radiographic findings In radiographic reports, there may be joints effusion due to chronic non-supportive inflammation, joint spaces narrowing, with relative preservation of articular surfaces [13]. Periarticular erosions at the PIP joints and deformities, including contractures, in the digits may occur [9]. Acroosteolysis is not rare, and as seen in our patient, it affects the terminal phalanges and is resulted from reduced peripheral blood flow [3]. In contrary to secondary HOA in PDP epiphyses of bones spared. There is also widening of the ends of long bones. In our patient, skull X-ray revealed poorly developed frontal sinuses and is different when compared to previous reports where enlargement of sinuses was seen. Pathophysiology This disorder is a hereditary disorder inherited as an autosomal dominant trait with variable expression. The disease expression is after puberty. One-third of these
patients have a positive family history but in our patient there was no familial inheritance [14]. Mutations in hydroxyprostaglandin dehydrogenase (HPGD) have recently been reported to cause primary hypertrophic osteoarthropathy (PHO). In histology study, increased collagen formation in widened bone and increased urinary excretion of hydroxyproline were shown [15]. Periostosis as well as the osteoporosis/osteolysis was seen in PDP implicated by factors that stimulate both osteoblasts and osteoclasts [10]. Differential diagnosis Psoriatic onycho-pachydermoperiostitis is limited to extremities and characterized by lack of clubbing and associated with psoriatic skin lesion, psoriatic nail involvement, thickening of soft tissue of the fingers and toes, and periosteitis of the distal phalange [16]. Joint involvement of PDP may mimic rheumatic arthritis, but normal sedimentation rate in first hour and
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non-inflammatory pattern of joint involvement may be helpful in diagnosis [9]. Acromegaly, thyroid acropachy, secondary form of hyperthrophic osteoarthropathy, variants of PDP and syphilitic periosteitis [17] should be included in differential diagnosis. Associated diseases Crohn’s [18] disease, myelofibrosis with extramedullary hematopoiesis and anemia [19, 20], gastric erosion and ulcer and bleeding, gastric hyperthrophy or atrophy [21, 22] are associated diseases. Case report of association of PDP with juvenile polyps of stomach and gastric adenocarcinoma was reported [23].
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9. 10. 11.
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13. 14.
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Treatment Rheumatologic symptoms such as arthralgia, arthritis improved with the use of non-steroid anti-inflammatory drugs NSAID [13] (diclofonace, ibobrofen, indomethacine), colchecin [24], intra-articular injection of steroid and intravenous pamideronate [25]. Colchecin and isoretinoine were used for the dermal changes [10]. Plastic surgery is indicated for cosmetic purpose, and surgery may be needed for the correction of associated deformities [26, 27]. To summarize, the classic or complete form of PDP is rare. The patient presented in this article has a complete form of disease and presented with the skeletal and skin changes.
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