CASE 14469 Published on 20.02.2017

Pachydermoperiostosis - A rare radiologic case

Section

Musculoskeletal system

Case Type

Clinical Cases

Authors

Dr. Akanksha Jain1, Dr. Shital K Turakhia2, Dr. Pratik Tak3

(1) Resident doctor
(2) Associate Professor
(3) Resident doctor

Radiology Department
B.J. Medical College
Asarwa 380016
Ahmedabad, India;
Email:aki89rocks@gmail.com;
skalpesh1822@gmail.com;
pratiktak1990@gmail.com
Patient

60 years, male

Categories
Area of Interest Musculoskeletal system ; Imaging Technique Ultrasound, Digital radiography
Clinical History
The patient had complaints of clubbing, swelling of multiple joints and thickening of the facial skin since adolescence. The patient complained of excessive sweating and feeling of heat and burning sensation in palms and soles. Thyroid profile, growth hormone assay, tests for syphilis and smears of skin for AFB were unremarkable.
Imaging Findings
Symmetric, exuberant, shaggy subperiosteal bone formation was seen in both forearms and legs. There was expansion of the distal ends of radius and ulna and the proximal ends of tibia and fibula, with a reduction in the radiocarpal and femorotibial joint spaces. There was reduction in joint spaces of the proximal and distal interphalangeal joints. Periarticular osteopenia and resorption of the distal phalanges was noted with associated soft tissue swelling of distal fingers and toes. Widening of the base of distal phalanx of all fingers of both hands was seen. Enlargement and remodelling of sesamoid bones in both hands and feet was noted.
The images showed collapse of calcaneum and calcification of tendoachilles. There was a symmetric and shaggy periosteal reaction along the lower lateral aspect of the iliac bones.
There was evidence of metaphyseal widening of the bilateral femur with cortical thickening and widening of the shafts.
There was mild hyperostosis of the skull bones in the parietooccipital region. The sella turcica appeared normal.
Discussion
PDP is a rare form of hypertrophic osteoarthropathy with no known cause and hence it is called idiopathic or primary hypertrophic osteoarthropathy (PHO). PDP accounts for 3–5% of cases of hypertrophic arthropathy and affects males more often than females (7:1).
In up to one-third of the patients, PDP occurs as an autosomal dominant hereditary disease. Some case reports suggest that it may be an X-linked disease. [1]
Deficiency of the prostaglandin transporter (SLCO2A1) has been characterized as the main cause of PHO.
Touraine et al. described three forms of PDP, viz, classic or complete form, with skin and skeletal changes; incomplete form, with skeletal changes but no dermal findings; and forme fruste with dermal changes but no skeletal findings. [2]
Facial involvement occurs in the form of thickening of the facial skin and scalp, with prominent folds on forehead and cheeks. Sometimes, the scalp takes on an undulating appearance and shows prominent grooves, the appearance called cutis verticis gyrata. Cutis verticis gyrata can also be seen in a variety of other conditions, including neurofibromatosis, DM, myxoedema, acromegaly, etc., and in syndromes including Turner's syndrome, tuberous sclerosis, etc., hence it is not pathognomonic for PDP. [3]
Skeletal findings include symmetric, shaggy subperiosteal bone formation in the long bones, especially of forearm and leg. Involvement of the epiphyseal region distinguishes it from the secondary form, in which epiphyses are usually spared. [4] There is widening of the ends of bones, especially at wrist and knee joints. A prominent feature is enlargement of distal part of the digits with resorption of distal phalanges and calcification of ligaments and interosseous membranes. In later stages, cortical thickening with narrowing of medullary cavity may be seen. Enlargement of sinuses may be seen uncommonly. Bone scintigraphy may reveal increased tracer uptake by the cortex in diaphyseal and metaphyseal regions. [5, 6] Hyperostosis of the calvaria and skull base bones is common. [4]
Joints affected in PDP show swelling due to joint effusion, with evidence of chronic nonsuppurative inflammation. There is reduction in joint spaces, with relative preservation of articular surfaces. Late-onset deformities may occur, especially in the digits. [5]
Spinal manifestations are unusual but have been described.
Variants of PDP include Rosenfeld-Kloepfer syndrome, Currarino idiopathic osteoarthropathy and a localized form with only the radiographic features of PDP in the lower extremities. [6]
Treatment is limited to NSAID, steroid, or colchicine therapy to alleviate arthralgias and retinoids for dermal changes. Surgical treatment is limited to plastic surgery for cosmetic indications. [5, 6, 7].
Differential Diagnosis List
Pachydermoperiostosis
Secondary hypertrophic osteoarthropathy
Thyroid acropachy
Acromegaly
Van Buchem's disease
Syphilitic periostosis
Final Diagnosis
Pachydermoperiostosis
Case information
URL: https://www.eurorad.org/case/14469
DOI: 10.1594/EURORAD/CASE.14469
ISSN: 1563-4086
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