FAMILIAL DUPUYTREN’S CONTRACTURE WITH PREDOMINANTLY FEMALE EXPRESSION

By PHILLIP MATTHEWS, F.R.C.S. Department of Orthopaedic Surgery, Neath General Hospital, Neath, West Glamorgan, UK

DESPITE the volume of literature which has appeared on Dupuytren’s contracture, there are still many aspects of it which remain problematic. The cause of the disorder has attracted much attention and numerous theories have been put forward in the past only to be discarded on close analysis. What has, however, become increasingly apparent is that Dupuytren’s disease has a strong familial tendency and most authorities now agree that it is essentially an inherited disorder transmitted as a dominant trait.

While the assertion of some rgth-century authors (Adams, 1878; Myrtle, 1881) that the condition does not occur in women is clearly wrong, there is certainly no doubt that is is far more common in males than females (Table I). The predilection for men to be affected is not, however, regarded as implying that the disease is sex-linked and

TABLE I Sex distribution of Dupuytren’s Contracture in published studies

Author Male : Female ratio

Golding, J. S. R. (1951) 8:1

Bows, J. H. (1954) 4’7 : I Conway, H. (1954) 6:1 Yost, J. et al. (1955) 3:1

Luck, J. v. (1959) 5’4 : I

indeed its frequent transmission from father to son eliminates such a possibility; rather it is believed that Dupuytren’s contracture is an autosomal dominant trait in which the penetrance is almost complete in males whereas it is diminished in females.

That much still remains to be learnt about the precise mode of inheritance of this common disorder is illustrated by the following case history and family pedigree.

CASE HISTORY

A housewife of 61 was referred with the complaint of gradually increasing deformities of both her hands over the preceding 7 years. By the time that she sought medical advice the condition had progressed to a stage at which she found difficulty in coping with her house- work and it was her hope that something might be done to improve matters. On further questioning she stated that her general health had been good and there was no history of serious illness or prolonged medication. On enquiring into her family history she commented that several relatives had been afflicted with an apparently similar disorder and that some of her female relatives had had operations for it.

Her hands showed typical Dupuytren’s disease with tight bands of involved fascia running from the palm into the ring and little finger and producing fixed flexion contractures (Fig. I).

120

FAMILIAL DUPUYTREN’S CONTRACTURE I21

FIG. I. Left hand ofthe indexpatient,a 6I-year-old housewife, with marked flexion contractures affect-

ing the ring and little fingers.

FIG. 2. The pedigree of the family described in the text.

FIG. 3. The left palm of a 5%year-old male member of the family. The degree of development of the Dupuytren’s changes, with palmar nodule and skin dimple but no deformity, was typical of that found

among the affected men.

Palmar fasciectomies were carried out with good result. The histological features of the ex- cised bands and nodules were characteristic of Dupuytren’s disease.

Stimulated by the unusual features of the family history, a study of the available relatives was undertaken; 30 were examined clinically and information was obtained on a further 5 who had either died or moved away. The hospital records of those who had attended for treatment were traced for confirmation of the diagnosis. Of the 35 included in the survey, 19 were female. The age range of the females examined was 47 to 82 with a mean of 64, whereas in the males the range was 48 to 81 with a mean of 60 years.

The relevant findings are set out in Figure 2. Eight of the females in the survey were affected by Dupuytren’s disease and in 5 of these marked contractures were, or had been, present. Three had undergone surgical treatment for relief of their disability. Among the males, changes of Dupuytren’s disease were detected in 4. The changes were, however, mild and restricted to palmar nodules, with or without skin dimpling (Fig. 3). Band develop- ment was inconspicuous and there was no fixed deformity. None of the men complained of any impairment of hand function and indeed 2 of them were quite unaware of the condition until it was brought to their notice. Knuckle pads were present in only 3 cases, all female, and there was no plantar involvement.

DISCUSSION

Of the many factors which have been incriminated in the aetiology of Dupuytren’s contracture, heredity is perhaps the best substantiated. Family pedigrees have been recorded in which the condition can be traced back through 7 generations and Corlette

32/2-n

122 BRITISH JOURNAL OF PLASTIC SURGERY

(194) has gone so far as to suggest that a family history might be obtained in every case if it were only possible to gain access to all members of all generations. In clinical studies of patients with Dupuytren’s contracture it has been regularly found that a high proportion of them had relatives similarly affected and figures as high as 40 per

cent have been quoted (Skoog, 1948). The occurrence of the disorder in identical twins is further evidence of a genetic factor and has been frequently recorded since the original report by Couch (1938).

The systematic investigation of inheritance in Dupuytren’s contracture is hampered by its frequency in the general population, by its late appearance in life and by the variable severity of its clinical manifestations even within members of the same family. Studies of relatives of patients were, nevertheless, undertaken some years ago by Stackenbrandt (1932) and by Schroder (rg34), though in their series only small numbers were involved. The most comprehensive study to date has been that of Ling (1963) who examined 50 patients and their relatives and employed a correction factor for age in the evaluation of his results. He concluded that an autosomal pattern of inheritance was involved and proposed that Dupuytren’s contracture is the result of a single dominant gene, the frequency of which is in the order of I in 8. Not all authorities have accepted Ling’s views unreservedly and Hueston (rg63), for example, regards it as too simple an approach to accept a single gene for Dupuytren’s contracture, feeling that a genetic system may be involved.

The family reported here presents features which are unusual and cannot be explained in the light of present genetic knowledge. While the mode of inheritance conforms to the autosomal dominant pattern, there is a paradox in that female members were more often affected, even taking into account the slightly higher age in this group. Furthermore, the severity of the affliction in the women appeared greater than in the men in terms of the deformity and disability produced. More often, as Hueston (1963) has noted, Dupuytren’s disease in women tends to remain localised to the palm and so is less prone to produce deformity.

This study has confirmed once again the importance of heredity in the aetiology of Dupuytren’s disease. From a clinical standpoint, however, it would seem that the degree of penetrance of the gene is of at least equal importance to its transmission. As yet we know very little of the factors which govern expression of the Dupuytren’s trait and this aspect of the disorder is one which deserves further attention.

SUMMARY

A family pedigree is described in which a strong Dupuytren’s trait is manifest predominantly on the female side. The genetic aspects of the condition are reviewed and the importance of gene penetrance is stressed.

REFERENCES

ADAMS, W. (1978). Contraction of the fingers (Dupuytren’s contraction) and its successful treatment by subcutaneous excision of the palmar fascia and immediate extension. British MedicalJournal. I, 928.

BOYES, J. H. (1954). Dupuytren’s contracture, notes on the age at onset and relationship to handedness. AmericanJournal of Surgery, 88, 147-154.

CONWAY, H. (1954). Dupuytren’s contracture. American Journal of Surgery, 87, IOI . CORLETTE, C. E. (1944). Dupuytren’s contracture. MedicalJournal of Australia, 2, 178. COUCH, H. (1938). Identical Dupuytren’s contracture in identical twins. Canadian MedicaZ

AssociationJournal, 39, 225. GOLDING, J. S. R. (1951). Dupuytren’s contracture. Postgraduate MedicalJournal, 27,463. HUESTON, J. T. (1963). “Dupuytren’s Contracture.” London and Edinburgh: E. & S.

Livingstone Ltd.

FAMILIAL DUPUYTREN’S CONTRACTURE 123 LING, R. S. M. (1963). The genetic factor in Dupuytren’s disease. Journal of Bone and

Joint Surgery, 45B, 709. LUCK, J. V. (1959). Dupuytren’s contracture, a new concept of the pathogenesis correlated

with surgical management. Journal of Bone andJoint Surgery, 41A, 635. MYRTLE, A. S. (1881). Dupuytren’s contracture of the fingers. British MedicalJournal, 2,

x94. SCHRODER, C. H. (1934). Die vererbung der Dupuytren’schen Fingerkontraktur. Archiz

fiir Rassen- und Gesellschaftsbiologie, Einschliesslich Rassen- und Gesellschaftshygiene, 29, 353.

SKOOG, T. (1948). Dupuytren’s contraction with special references to aetiology and im- proved surgical treatment. Its occurrence in epileptics; notes on knuckle pads. Acta Chirurgica Scandinavica, 96, Supplementum 139

STACKENBRANDT, H. (1932). Die HereditIt bei der Dupyutrenschen Kontraktur, Dargestellt An 5 StammbBumen. Inaugural Dissertation, Miinster.

YOST, J., WINTERS, T. and FETT, H. C. (1955). Dupuytren’s contracture, a statistical study. American Journal of Surgery, 90, 568.