Familial hidradenitis suppurativa: evidence in favour of single gene transmission.

Abstract

SUMMARY The three English families in this report have a total of 21 members (16 females and five males) suffering from chronic hidradenitis suppurativa. In family A the condition is associated with acne conglobata and there is vertical transmission of the disorder through three generations. In the others there is no associated cystic acne, but all those affected had a history of acne vulgaris with comedone formation, and the condition has been confirmed in two generations. It is likely that a male in an earlier generation in family B suffered from the disease and affected sibs in family C were born to different fathers. The familial aggregation and number of affected subjects suggests a single gene disorder and the pattern of transmission is consistent with autosomal dominant inheritance. Males and females are affected in successive generations and there is the anticipated variation in clinical severity in those suffering from the condition.Hidradenitis suppurativa ('apocrinitis') is a clinically striking but apparently uncommon chronic inflammatory condition of the skin and subcutaneous tissues in areas containing apocrine sweat glands.' 2 These are located deep in the dermis and are closely associated with the pilosebaceous organs. Although widely scattered over the body surface these glands are concentrated mainly in the axillae, perianal regions, lower back, and in and around the breasts. The disease has been recognised for many years, but the basic cause of the disorder remains obscure and it has been classified with acne conglobata and dissecting cellulitis of the scalp as the follicular occlusive triad.3 Acne conglobata with comedones, cysts, and abscesses of back, chest, and buttocks appears to be the most common single lesion of this group, but some subjects develop an associated hidradenitis and a few suffer from all three conditions. Hidradenitis suppurativa occurs in both sexes, but appears to be more common in females, and the age of onset varies from adolescence to early or mid adult life, although acne conglobata can be seen earlier. Lesions of hidradenitis occur in the axillae, particularly in the female, but perianal and genital lesions occur in both sexes and are more resistant to treatment. The condition is thought to start in the pilosebaceous follicles with poral occlusion consequent on comedone formation.

Surgical treatment of hidradenitis suppurativa

“…We had one pair of twins in our series, and 29% of the patients had a family history. There is thought to be a genetic form of the disease, with a single gene transmission (10,11). A correlation to acne would be conceivable, but the prevalence of acne in our patients was no higher than in the normal population (12).…”

Hidradenitis Suppurativa

“…36 One study describing an autosomal dominant pattern of inheritance has also been reported, but the penetrance appeared variable, indicating that other nongenetic factors are involved. 26,37 A later review of the data has renewed the suspicion of a dominant pattern of inheritance in this group of patients using a better clinical definition of the cases. 38 Co-occurrence of phenotypes may support a genetic linking.…”

“…26 ln a study of the ''hidden'' or unrecognized'' dermatological diseases in patients attending a dermatological clinic, a physical examination of general dermatological patients found a point prevalence of hidradenitis at a rate of 1/ 1000. 27 From interviews among healthy women (mean age 31 years), a lifetime prevalence rate of 4% was found.…”

Surgical therapy for uncontrolled chronic hidradenitis suppurativa

“…Fitzsimmons et al studied three families with a total of 21 affected members. They reported that the pattern of transmission and the number of affected individuals were consistent with autosomal dominant inheritance [15].…”