Oct 15, 1985 - Abstract. In this article a family with five members suffering from primary hypertrophic osteoarthropathy (PHO) is reported. Our cases are ...
Pediatric Radiology
Pediatr Radiol (1986) 16:231-234
9 Springer-Verlag 1986
Primary hypertrophicosteoarthropathy H. B. Diren I, M.T. Kutluk 2, A. Karabent 2, A. G 6 9 m e n 2, G. Adalio~lu 2 and A. Kenano~lu 1 Departments of 1Radiology and/Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey
Abstract. In this article a family with five members
suffering from primary hypertrophic osteoarthropathy (PHO) is reported. Our cases are characterized by swollen and painful joints and clubbing of distal phalanges of hands and feet. The diagnosis made upon radiological and clinical findings.
Case reports Case I An ll-year-old girl (pedigree no: 1-3) was admitted to Hacettepe University Children's Hospital with complaints of fever and cough. She gave a history of intermittent fever and cough since she was 5 years old. She also had complaints of excessive sweating of hands and feet and clubbing of distal phalanges since the age of 1.5 years. Painless swelling of the joints had started when she was 5 years old. We were informed that her two sisters, father and grandmother had similar complaints and findings (Fig. I). On physical examination, there was clubbing and excessive sweating of hands and feet (Fig. 2 a). Knee and elbow joints were swollen without any heat and color changes. Other findings were normal. The laboratory examinations were as follows; Hemoglobin 10.5 g/dl, WBC 13 400/mm 3. Serum calcium, posphorus, alkaline phosphatase and sweat chloride levels, immune-electrophoresis, electrocardiography and PPD test were also normal. Chest radiograph showed increased bronchovascular markings at the bases and "honey comb" appearance confirming localised bronchiectasis at the right paracardiac area (Fig.2b). Hand radiographs showed clubbing and also hypoplasia in all distal phalanges (Fig. 2 c). These changes are bilateral and symmetrical. Other radiographs of the upper extremities showed coarse trabecular pattern and cortical thinning of the long tubular bones bilaterally. These long bones also had periosteal new bone formation at the diaphysis bilaterally (Fig.2d). The lower extremity radiographs showed diaphyseal and distal metaphyseal enlargement and medial bowing of the femurs bilaterally (Fig.2e). All the bones of the lower extremities had coarse trabeculation and cortical thinning. Tibia and fibula had also periosteal new bone formation of the diaphysis bilaterally (Fig. 2 f). There was clubbing and
also hypoplasia in all distal phalanges in radiographs of the feet. Short tubular bones, metatarsal and tarsal bones were all osteoporotic. The radiologic appearance of the cranium and vertebral column were normal.
Case 2 A 4-year-old girl (sister of the first case and pedigree no: I-5) had complaints of enlargement of the distal parts of hands and feet and delayed closure of fontanels at the age of 2.5 years. On physical examination, there was excessive sweating and dubbing of hands and feet. Other findings were normal. Biochemical values of the laboratory examination were normal. Hand radiographs showed clubbing and hypoplasia in all distal phalanges (Fig. 3). These changes are bilateral and symmetrical. The skeletal development of the hand confirmed the age of two. The radiographs of the long bones showed a coarse trabecular pattern and cortical thinning. There was diaphyseal enlargement and periosteal new bone formations of tibia and fibula bilaterally. Feet radiographs showed clubbing and also hypoplasia in all distal phalanges similar to those of the hands. The radiological findings of chest, cranium, vertebral column and pelvis were normal.
Case 3 A 10-month-old girl (sister of the first case and pedigree no: 1-6) complained of enlargement of the distal parts of hands and feet.
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Fig. 1. The pedigree of the Family
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H.B. Diren et al.: Primary hypertrophic osteoarthropathy
Fig. 2 a General appearance of the hands of Case 1. The most notable features are clubbing in all distal phalanges bilaterally, b Chest radiograph shows increased bronchovascular markings at bases and "honey comb" appearance consist with localised bronchiectasis at the right paracardiac area. c Hand radiograph shows clubbing and also hypoplasia in all distal phalanges and osteoporosis all of the bones. These changes are bilateral and symmetrical, d Radius and ulna radiograph shows slight diaphyseal enlargement and periosteal new bone formation, e and f Lower extremity radiograph show diaphyseal enlargement, coarse trabecular pattern and cortical thinning of the femur, tibia and fibula with periosteal new bone formation at the diaphysis. These changes are bilateral and symmetrical
On physical examination, there was clubbing of hands and feet. The anterior fontanel was 7 x 8 cm in diameter. Other findings were normal. Hand radiographs showed clubbing and slightly hypoplasia in all distal phalanges (Fig. 4). The skeletal development of the hand
confirmed the age of 3 months. The radiographs of the long bones showed cortical thinning. There was diaphyseal enlargement and periosteal new bone formations of radius and tibia bilaterally. Feet radiographs showed clubbing and also hypoplasia in all distal phalanges. The radiological findings of other body parts were normal.
H. B. Diren et al.: Primary hypertrophic osteoarthropathy
Fig.3. P-A hand radiograph of Case 2 shows clubbing and also hypoplasia in all distal phalanges. These changes are bilateral and symmetrical
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Fig.5. P-A hand radiograph of Case4 shows minimal hypoplasia of distal phalanges. Distal phalanges of thumbs are slightly broad bilaterally
Case 4 A 52-year-old male (father of above mentioned cases and pedigree no: II-1) had had excessive sweating and enlargement on distal parts of hands and feet. These complaints had started to heal progressively at the age of 20. The only pathological finding of the physical examination was minimal enlargement of distal parts of hands and feet. The chest and skeleton radiograms had normal findings, but hands radiogram showed minimal hypoplasia of distal phalanges and the thumbs were slightly broadened bilaterally (Fig. 5). His mother also had similar finger changes when she was young (pedigree no: III-2).
Discussion
Fig,4. P-A hand radiograph of Case 3 shows clubbing and minimal hypoplasia in all distal phalanges. These changes are bilateral and symmetrical
H y p e r t r o p h i c o s t e o a r t h r o p a t h y has b e e n k n o w n since H i p p o c r a t e s [1]. T h e clinical picture o f the first scientific case r e p o r t was p u b l i s h e d b y Friedrich in 1868 a n d was characterized by swollen a n d painful joints a n d c l u b b i n g o f distal p h a l a n g e s [1, 2]. Today, h y p e r t r o p h i c o s t e o a r t h r o p a t h y is classified into two distinct clinical f o r m s ; P H O a n d s e c o n d a r y hypert r o p h i c o s t e o a r t h r o p a t h y (SHC). S H O usually develops as a c o n s e q u e n c e o f c a r d i a c a n d p u l m o n a r y diseases a n d rarely has a t r a u m a t i c aetiology in elderly p e o p l e [2]. The s y n d r o m e o f P H O was described b y C u r r a r i n o for the first time in 1961, as excessive
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sweating of hands and feet, delayed closure of cranial sutures and fontanels, swollen and painful joints, clubbing of distal phalanges and periosteal new bone formations of the long tubular bones with no apparent reason [3]. This syndrome starts at childhood and has a familial tendency. Features point to an autosomal dominant pattern and it has been reported that males and negros were affected more frequently [4, 5]. The diagnosis of PHO is made upon radiological findings basically. Cranial roentgenographic changes consist of delayed closure of the sutures and fontanels, multiple Wormian bones and multiple radiolucent defects. These are the results of insufficient bone development. These defects may be congenital or acquired and may be prolonged until puberty [1, 2, 5]. The most important diagnostic finding is obtained on radiographs of the long bones. Diaphyseal enlargement with cortical thinning and prominent periosteal new bone formations of the diaphysis are very valuable clues to the diagnosis of PHO. These findings are prominent especially in early childhood. In older ages, periosteal reactions are seen in the distal third of the long bones [4, 5]. PHO resembles the craniodiaphyseal dysplasia and progressive diaphyseal dysplasia (Engelman's disease) in its radiologic manifestations. The changes in long bones and cranial findings in Engelman's disease imitate PHO. The diaphyseal enlargement and periosteal reactions are associated with cortical thickening in Engelman's disease, whereas diaphyseal enlargements are associated with cortical thinning in PHO and the medullary cavity appears larger than normal [6, 7]. Cranial radiograms are helpful to differentiate PHO from craniodiaphyseal dysplasia since the changes in long bones are similar in both diseases. The thickening and sclerosis of all cranial and facial bones are seen in craniodiaphyseal dysplasia [8]. On the other hand, disseminated and prominent osteoporosis of cranial bones are seen in PHO. Certainly PHO must be differentiated from SHO. The cases of SHO have histories of cardiac and/or pulmonary diseases. They are sporadic and do not have a family history. Another important difference is that, SHO cases do not have a history of excessive sweating of hands and feet. The periosteal new bone formation is seen at the diaphysis and metaphysis in
H. B. Diren et al.: Primary hypertrophic osteoarthropathy
cases of SHO. However, this is restricted to the diaphyseal region in PHO [4]. The existence of pulmonary problem in Case 1 could indicate the secondary form of the disease. However, we learned that the hand and feet changes had occurred before the pulmonary problems and there were similar problems in the other members of her family. Therefore, we believe that the bronchiectasis of the first case had developed as a result of recurrent pulmonary infections. PHO and SHO are two distinct clinical entities as manifested by clinical and radiological findings and also in treatment. The prognosis of PHO is good and the changes may resolve spontaneously. Therefore, when PHO is diagnosed no treatment is necessary. The physicians must evaluate their own "hypertro-. phic osteoarthropathy" cases very carefully by taking a detailed history and by physical examination.
References 1. Chamberlain DS, Whitaker S, Silverman FN (1965) Idiopathic osteoarthropathy and cranial defects in children (Familial idiopathic osteoarthropathy). AJR 93: 408 2. Jajic I, Pecine M, Krstuloric B, Korakerik D (1980) Primary hypertrophic osteoarthropathy (PHO) and changes in the joints. Scand J Rheumatol 9 (2): 89 3. Currarino G, Tierney RC, Giesel RG, Weihl C (1961) Familial idiopathic osteoarthropathy. Am J Roentgenol, Rad Ther Nucl Med 85:633 4. Bhate DV, Pizzaro AJ, Greenfield B (1978) Idiopathic hypertrophic osteoarthropathy without pachydermia. Radiology 129: 379 5. Cremin BJ (1970) Familial idiopathic osteoarthropathy of children; a case report and progress. Br J Radio143:568 6. Fallon MD, WhiyteMP, Murphy WA (1980) Progressive diaphyseal dysplasia (Engelman's disease) J Bone and Joint Surgery 62-A: 469 7. Lennon EA, Schenter MM, Hornabrooh RW (1961) Engelman's disease. J Bone Joint Surg 43-B: 279 8. SprangerJW, LangerLO, WiedemannHR (1974) CraniodiaphyseaI dysplasia, bone dysplasias. Saunders, Philadelphia Toronto, pp 319-320 Date of acceptance: 15 October 1985 Dr. H. Bari~ Diren Department of Radiology Faculty of Medicine Hacettepe University Hacettepe, Ankara Turkey
