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Pachydermoperiostosis: Scintigraphic, Thermographic, Plethysmographic, and Capillaroscopic Observations ADEL G

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Pachydermoperiostosis: Scintigraphic, Thermographic, Plethysmographic, and Capillaroscopic Observations ADEL G Ann Rheum Dis: first published as 10.1136/ard.42.1.98 on 1 February 1983. Downloaded from Annals ofthe Rheumatic Diseases, 1983, 42, 98-102 Case report Pachydermoperiostosis: scintigraphic, thermographic, plethysmographic, and capillaroscopic observations ADEL G. FAM, HYACINTH CHIN-SANG, AND COLIN A. RAMSAY From the Departments ofMedicine and Radiology, University of Toronto, and Rheumatic Disease Unit, Sunnybrook Medical Centre, Toronto, Ontario, Canada SUMMARY A unique case of pachydermoperiostosis, multiple epiphyseal dysplasia, and secondary osteoarthritis is described. An additional interesting feature was the presence of acroosteolysis of the distal phalanges of fingers and toes. Scintigraphic, thermographic, plethysmographic, and capillaroscopic studies suggested increased blood flow through clubbed fingers, raising the possibil- ity that this may play a role in the pathogenesis of pachydermoperiostosis. Pachydermoperiostosis (primary or idiopathic hyper- copyright. trophic osteoarthropathy) is a rare, often familial disease characterised by digital clubbing, cylindrical thickening of legs and forearms, sebaceous gland overactivity, hyperhidrosis, and symmetri- cal irregular periosteal ossification predominantly affecting the distal ends of long bones.`-3 Reported here is a unique case of pachydermo- periostosis and multiple epiphyseal dysplasia. Scinti- http://ard.bmj.com/ graphic, thermographic, plethysmographic, and capillaroscopic findings suggested increased blood flow through clubbed digits. An additional, interest- ;. ing feature was the presence of acroosteolysis of the distal phalanges of fingers and toes, a finding which has rarely been described in pachydermo- periostosis.` on September 29, 2021 by guest. Protected Case report A 56-year-old single Italian woman presented in 1979 with a history of clubbed fingers and toes associated with deformities offeet, knees, and elbows dating back to childhood. Excessive greasiness of skin, profuse perspiration of hands and feet, and -' marked thickening of the skin of the face, forearms, hands, and legs had been present for an indeter- minate period. She had noticed pain in the legs andl forearms since her late teens. Arthritis involving hips, knees, elbows, wrists, and ankles had been no*d for _ _ Accepted for publication 8 December 1981. Correspondence to Dr Adel G. Fam, Rheumatic Disease Unit, Sunnybrook Medical Centre, 2075 Bayview Avenue, Toronto, Fig. 1 Symmetrical cylindrical enlargement oflegs, genu Ontario, Canada M4N 3M5. valgus deformity, and clubbing of the toes. 98 Ann Rheum Dis: first published as 10.1136/ard.42.1.98 on 1 February 1983. Downloaded from Pachydermoperiostosis 99 copyright. Fig. 2 Patient's right hand showing clubbing and thickening ofthe digits. many years. Pain and stiffness in knees and hips Fig. 3 Right ankle showing diffuse, shaggy periosteal http://ard.bmj.com/ became progressively worse during the previous 2 thickening ofdistal end of the tibia (arrows) and fibula and years, and she experienced great difficulty walking. slanting ofthe ankle joint mortise from the lateral to the There was no family history of the disease. medial side. She was of average intelligence and 130 cm (4 ft 3 in) tall. Pertinent findings included an oily skin, with gross bulbous clubbing (Fig. 2). She had general hyperhidrosis, deep furrowing of the fore- restricted movement of hip, knee, ankle, talocal- and wrist flexion head, symmetrical cylindrical enlargement of legs caneal, shoulder, elbow, joints; on September 29, 2021 by guest. Protected and forearms (Fig. 1), with irregular thickening of deformity and crepitus of the elbows; valgus defor- tibiae and fibulae, and unusually large hands and feet mity of the knees without effusion; and planovalgus Fig. 4 Radiographs ofhand showing resorption ofdistal phalanges. Ann Rheum Dis: first published as 10.1136/ard.42.1.98 on 1 February 1983. Downloaded from 100 Fam, Chin-Sang, Ramsay Fig. 5 Anteroposterior radiographs ofknees showing angular tibial condyles with irregular articular surfaces, degenerative arthritis, and osseous bodies in the left knee. copyright. electrophoresis, thyroid indices, creatinine, and urine analysis. Tests for rheumatoid and antinuclear fac- tors were negative, the VDRL was nonreactive, and total haemolytic complement was normal. Radio- graphic examination showed generalised soft-tissue swelling with digital clubbing, irregular periosteal proliferation with cortical thickening of distal parts of http://ard.bmj.com/ the tibiae, fibulae, radii, and ulnae (Fig. 3), and resorption of the distal phalanges of the fingers (Fig. 4) and toes. Multiple epiphyseal abnormalities, including irregular tibial surfaces, deficient epiphyses of tibial tuberosities (Fig. 5), flattening of femoral heads, and irregularities of distal humeral epiphyses and tarsal and carpal bones, were also observed. on September 29, 2021 by guest. Protected Other findings included a characteristic downward inclination of the distal tibial articular surface from lateral to medial side (Fig. 3); short, broad metatar- sals, and secondary osteoarthritis of hip, knee, ankle, talocalcaneal, shoulder, elbow, and wrist joints. Radiographs of the chest, skull, and spine were nor- Fig. 6 Scintigraphs ofthe hands showing accumulation of mal. the isotope in the finger tips. SPECIAL STUDIES deformity of the feet, with short metatarsals and A 99mTc methylene diphosphonate bone scintiscan stubby toes. Neurological examination was un- revealed pericortical linear concentration of the remarkable. radionuclide along the distal tibial and fibular shafts, Her haemoglobin was 14 2 g/dl, leucocyte count and increased uptake in the elbows and knees. The 9200/mm3 (9.2 x 109/l), erythrocyte sedimentation blood pool images also showed accumulation of the rate 28 mm/h, and normal serum calcium, phos- nuclide in the finger tips (Fig. 6). Thermography of phorus, alkaline phosphatase, uric acid, protein the hands showed hyperthermia of the distal ends of Ann Rheum Dis: first published as 10.1136/ard.42.1.98 on 1 February 1983. Downloaded from Pachydermoperiostosis 101 Fig. 7 Svnovial biopsy from the right knee showing mild svnovial lining cell hyperplasia and thickening ofsubsynovial blood vessels. (Haematoxvlin and eosin, x 235). several digits, most marked in the thumbs and left is not widely recognised. The occurrence of acro- index finger. Photoelectric plethysmography osteolysis in association with finger clubbing in these (method of Challoner and Ramsay') revealed patients helps to differentiate pachydermoperiostosis copyright. increased blood flow to several of the clubbed fingers from other conditions of which osteolysis is a fea- as compared with a control. Nail bed capillary micro- ture.' scopy revealed slight capillary enlargement and The association of pachydermoperiostosis and increased tortuosity. A needle synovial biopsy of the MED has not to our knowledge been previously right knee showed mild synovial lining cell hyper- reported. A familial incidence has been observed in plasia, increased vascularity, and marked thickening of both conditions. The 2 diseases are often transmitted as an small subsynovial blood vessels with fibrosis (Fig. 7). autosomal dominant with variable express- http://ard.bmj.com/ ivity.1-5 8-11 Discussion There is also evidence in some cases of MED for a pattern of autosomal recessive inheritance.12 The Points of interest in this report pertain to clinical occurrence of MED in association with pachydermo- features and results of special investigations. The periostosis in this case is probably coincidental and patient described fits all the classic features of raises the possibility of multiple gene abnormalities. pachydermoperiostosis.1- Although patients with No suggestion of either condition was found in other pachydermoperiostosis often complain of arthralgia members-of the family, suggesting that the genetic on September 29, 2021 by guest. Protected and bone pains, deforming arthritis is not a promi- defect arose de novo in this patient. nent feature.1-3 In this patient, however, severe Synovial histopathological findings in our patient degenerative arthritis, particularly of knees, wrists, included mild synovial lining cell hyperplasia, elbows, and hips, dominated the clinical picture. She increased vascularity, and marked thickening of sub- was of below average height, and further radio- synovial blood vessels. Synovial membrane abnor- graphic studies revealed typical findings of multiple malities were described in 2 other patients with epiphyseal dysplasia (MED),P-` with defective pachydermoperiostosis.-13 Similar pathological epiphyseal development, marked deformities of changes were observed in both, and electron micro- articular surfaces, secondary osteoarthritis, short scopy in one of them11 revealed multilayered base- stubby metatarsals, and characteristic sloping of the ment membrane laminae around small subsynovial ankle mortise (slant sign).-10 Spondyloepiphyseal blood vessels. It is of interest that morphological and dysplasia was excluded by the lack of spinal ultrastructural studies of the synovial membrane in involvement. secondary hypertrophic osteoarthropathy have also Another unusual finding in this case was the pres- shown prominent microvascular abnormalities.14 ence of acroosteolysis of the distal phalanges of fingers The scintigraphic findings in this case are anal- and toes. This rare feature of pachydermoperiostosis ogous to those described in secondary hypertrophic Ann Rheum Dis:
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