Digital clubbing, hyperhidrosis, acro-osteolysis and osteoporosis. A case resembling pachydermoperiostosis

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Clinical Genetics 1982 : 22 : 83-89

Digital clubbing, hyperhidrosis, acroosteolysis and osteoporosis. A case resembling pachydermoperiostosis C k I N T A N A SlRINAVlN’,

NEIL R. M. BU~ST’AND PREMRUDEE MOKKHAVES’

‘Medical Genetics Unit, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. ’Department of Pediatrics and Division of Medical Genetics, Oregon Health Sciences University, Portland, Oregon, U.S.A. ’Bangkok General Hospital, Bangkok, Thailand

We report a Cambodian girl with digital clubbing, profuse hyperhidrosis, and joint and leg pain and swelling. She also had extensive acro-osteolysis of distal phalanges as well as generalized osteoporosis. There was no other affected person in the family, but her parents were first cousins. Although the X-ray changes are unusual, this patient probably represents a case of pachydermoperiostosis, either occurring as a new mutation or inherited as an autosomal recessive syndrome. Received I 1 May. accepted for publication 22 June 1982 Key words: Bone resorption; clubbed fingers; consanguinity; hyperhidrosis; osteoarthropathy ; osteolysis; osteoporosis.

Identical changes are observed in pachydermoperiostosis (idiopathic or primary hypertrophic osteoarthropathy) and secondary hypertrophic osteoarthropathy (Vogl & Goldfischer 1962, Rimoin 1965, Epstein et al. 1979). They consist of: digital clubbing; cylindrical enlargement of the extremities; thickening, furrowing and oiliness of the skin of face and forehead (pachydermia); and furrowing of the scalp (cutis verticis gyrata). The patients may be asymptomatic, but some may have hyperhidrosis, pain and tenderness of the long bones, and arthralgia or arthritis of the large joints. A typical radiological finding is subperiosteal ossification (periostosis), especially over the distal ends of the long bones, metacarpals, metatarsals, and proximal two phalanges. The

pathogenesis of hypertrophic osteoarthropathy remains unknown although hormonal, circulatory and neurogenic mechanisms may be implicated (Epstein et al. 1979, Shneerson 1981). We have observed a patient with the features of hypertrophic osteoarthropathy but who also had acro-osteolysis and osteoporosis rather than excess ossification. Her parents were first cousins, which suggests that her condition was recessively inherited.

Case Report

The patient, a 12-year-old Cambodian girl from a refugee camp in Thailand, was seen in April 1980 because of clubbing of fingers and toes and

0009-9 163/82/080083-07%02.50/0 0 1982 Munksgaard, Copenhagen

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excessive sweating of the hands and feet. Her maternal grandmother related that clubbing had been evident since the age of 7 months. The onset of hyperhidrosis was not known, but as a child, difficulty in holding a pencil because of slipperiness precluded any schooling. During her flight from Cambodia 5 months previously, a bout of vague pain and swelling had developed in both thighs and knees, causing trouble in walking and climbing stairs. The symptoms partially subsided without treatment. Apart from this, her health had been good. The patient was the first of four children, two boys and two girls. The parents were first cousins. Except for the maternal grandmother, who was normal, no other family members were

available for examination or interview; but as far as known there was no similarly affected relative. On examination, clubbing of fingers and toes and hyperhidrosis of the hands and feet were striking (Fig. 1). Soft tissue swelling was limited to the dusky red and slightly tender distal phalanges. The nails were dystrophic with a brownish-yellow discoloration. The hands and feet sweated profusely and constantly, over the dorsum as well as the palms and soles; drops of sweat were visible, especially over the distal parts. There was no excess sweating on the rest of the body. Thickening of the soft tissue around the knees and ankles gave the legs a cylindrical appearance (Fig. 2). In addition, she

Fig. 1. Digital clubbing and hyperhidrosis of hands and feet.

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Fig. 2. The patient. Note swelling of knees and ankles and cylindrical appearance of legs.

had knock-knees. There was a palpable joint effusion in both knees, but other signs of inflammation were absent. Both quadriceps were atrophic and weak, with grade 4+/5motor power. The spine showed slightly increased lumbar lordosis. The rest of the physical examination was within normal limits. Bone survey showed widened medulla and poor modeling of the long bones, the cortices were thin and the spongy bone sparse (Fig. 3). The upper femur had coxa valga deformity, the capital epiphysis being slightly flattened. The distal epiphysis of femur and proximal epiphysis of tibia were enlarged, and flattened lateral tibia1 plateaux gave rise to genu varus (Fig. 3). The periosteum was normal. Osteolysis was observed in the distal phalanges of all fingers and toes; only the bases of distal

phalanges still remained (Fig. 4). The cranial bones were thin, and one small wormian bone was noted in the lambdoid suture. The ribs and vertebrae also showed osteoporosis ; the anterior ends of the ribs were somewhat spatulate. The chest X-ray was normal. The following tests were normal : complete blood counts; urinalysis; serum sugar, urea nitrogen, creatinine, uric acid, sodium, potassium, bicarbonate, chloride, calcium, phosphorus, albumin, globulin; protein immunoelectrophoresis ; antinuclear factor; rheumatoid factor; LE (lupus erythematosus) preparation ; thyroid function tests (T, and TJ; and electrocardiography. Alkaline phosphatase was 72 Bodansky units (normal 9-15), and erythrocyte sedimentation rate was 25 mm/h.

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Fig. 3. X-ray film of knees, showing genu varus and osteoporosis of long bones.

Discussion

The patient in this report exhibited digital clubbing, hyperhidrosis, pain and swelling of knee joints and legs, all of which are typical manifestations of hypertrophic osteoarthropathy. Subperiosteal ossification, which is generally considered characteristic of hypertrophic osteoarthropathy, was noticeably absent. In contrast, there were osteolysis of distal phalanges and generalized osteoporosis. The distal phalanges in hypertrophic osteoarthropathy usually do not show bone changes, although in some cases burr-like hypertrophy or bone atrophy is observed (Rimoin 1965). In reviewing the literature, we found two reported cases in which acroosteolysis was associated with pachydermoperiostosis (Weens & Brown 1945, Hedayati et al. 1980), and one, with digital clubbing secondary to congenital cyanotic heart disease (Weens & Brown 1945) (Table 1). The mechan-

ism of acro-osteolysis in these cases is not clear. Observing both bone hypertrophy and acroosteolysis of the phalanges in two patients, Weens & Brown (1945) believed that bone absorption was preceded by hypertrophic change. Hedayati et al. (1980) proposed that distal phalangeal resorption in pachydermoperiostosis may have resulted from reduced peripheral blood flow demonstrable in this condition (which is quite the opposite from secondary hypertrophic osteoarthropathy in which the flow is increased) (Rimoin 1965, Kerber & Vogl 1973). Osteoporosis as seen in the patient presented here had not been previously described in hypertrophic osteoarthropathy. An opinion widely held is that arthropathy in hypertrophic osteoarthropathy occurs secondarily to active inflammation of the periosteum. However, Horn (1980) recently reported a pulmonary hypertrophic osteoarthropathy patient with florid joint symptoms in the complete absence of radiographic

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CLUBBING

AND

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Fig. 4. Acro-osteolysis of distal phalanges of fingers and toes.

changes. The patient in our presentation also exhibited pain and swelling of joints and legs without evidence of periostosis. In view of negative findings suggestive of cardio-pulmonary or hepatic diseases in this patient, the diagnosis of pachydermoperiostosis seems logical; the odd things are early age of onset, acro-osteolysis and osteoporosis instead of periostosis.

In an analysis of pachydermoperiostosis pedigree data reported in the literature, Rimoin (1965) concluded that the trait has autosomal dominant inheritance with marked variability in expressivity. About 50% of cases are sporadic (Shneerson 1981). Genetic heterogeneity probably exists in this condition (Rimoin 1965). Evidence for the autosomal recessive form is derived from two kindreds reported by Leva

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ET AL

Table 1

Clinical findings of t h e three reported c a s e s and present c a s e in which acro-osteolysis w a s associated with pachydermoperiostosis o r simple clubbing

v) ._

-e -

v)

m

X

,

a

Weens & Brown ( 1945) Case I

59

F

30

Hedayati et al. ( 1980) Sirinavin et al. (Present case)

~

Case II

a, U

9 a

Authors

~

E L

c

x a, 0)

m ._

x -0

m

.c x

e

8

d

Diagnosis

Pachydermoperiostosis ( ? sporadic case) Simple clubbing secondary to congenital cyanotic heart disease

+ -

-

M

+ +

45

F

+

+

+

13

F

+

+

-

(1915) and Bureau et al. (1959), in which three instances of parental consanguinity occurred in four affected sibships (Rimoin 1965). Complete family study of the patient described here was unfortunately not possible, but parental consanguinity suggests the autosomal recessive mode of inheritance. Further family and case studies are necessary to confirm whether the patient in this report had rare manifestations of pachydermoperiostosis, or a hitherto unrecognized syndrome. Acknowledgments

Supported in part by a grant from Siriraj-China Medical Board (of New York, Inc.), and the International Rescue Committee.

References Bureau, Y., H. Barriere & M. Thomas (1959). Hippocratisme digital conghital avec hyper-

-

Pachydermoperiostosis (sporadic case)

? Pachydermoperiostosis ( ? autosomal recessive form)

keratose palmoplantaire et troubles osseux. Ann. Derm. Syph. 86, 61 1-622. Epstein, O., B. B. Ajdukiewicz, R. Dick & S. Sherlock (1979). Hypertrophic hepatic osteoarthropathy. Clinical, roentgenologic, biochemical, hormonal and cardiorespiratory studies, and review of the literature. Amer. J . Med. 67, 88-97. Hedayati, H., R. Barmada & J . L. Skosey (1980). Acrolysis in pachydermoperiostosis. Primary or idiopathic hypertrophic osteoarthropathy. Arch. intern. Med. 140, 1087-1088. Horn, C. R. ( I 980). Hypertrophic osteoarthropathy without radiographic evidence of new bone formation. Thorax 35, 479. Kerber, R. E. & A. Vogl (1973). Pachydermoperiostosis. Peripheral circulatory studies. Arch. intern. Med. 132, 245-248. Leva, J. (1 9 15). Uber famihare Akromegahe. Med. Klin. 112, 1266. Quoted in papers by Rimoin, D. L. (1965) and Vogl, A. & S. Goldfischer (1962) Rimoin, D. L. ( 1 965). Pachydermoperiostosis (idiopathic clubbing and periostosis). Genetic and physiologic considerations. New Engl.J . Med. 272, 923-93 1. Shneerson, J . M. (1981). Digital clubbing and hypertrophic osteoarthropathy: the underlying mechanisms. Brit. J . Dis. Chest 75, 1 13-1 31.

DIGITAL

CLUBBING AND

Vogl, A. & S. Goldfischer (1 962). Pachydermoperiostosis. Primary or idiopathic hypertrophic osteoarthropathy. Amer. J. Med. 33, 166-187. Weens, H. S. & C . E. Brown (1945). Atrophy of terminal phalanges in clubbing and hypertrophic osteoarthropathy. Radiology 45, 27-30.

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Address : Chinlano

M,D

Department of Medicine Siriraj Bangkok ,0700 Thailand

89

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