Twenty-six probands suffering from hidradenitis suppurativa were identified from Hospital Activity Analysis (H.A.A.) records for the period 1980-83 and by direct referral from hospital specialists over a 6-month period in 1983-84. Investigation of their families eventually confirmed a total of 62 affected individuals from 23 families. In II families there was evidence in favour of single gene or Mendelian inheritance; in another three there was familial occurrence; in nine families there was a negative family history at the time of enquiry. The disease appears to be commoner than reports suggest and it is probable that there is an underestimation of affected individuals in our community. Problems of identification including variable age of onset and psycho-social factors were found and may be responsible for false-negative family histories.
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.
Fronto‐metaphyseal dysplasia is a rare but clinically striking condition characterized by skeletal and other abnormalities. Typical clinical and radiological features of the disease were present in four individuals in the family in this report. One of these, a male, had an obstructive uropathy at birth, making this the fourth male reported with fronto‐metaphyseal dysplasia and an associated renal abnormality. In addition, he had severe congenitaI stridor associated with sub‐glottic narrowing of the trachea. His affected sister also had severe congenital stridor associated with sub‐glottic stenosis and a tracheal web. Both children had recurrent respiratory tract infection requiring frequent hospital admission. Respiratory problems have been reported in several other individuals with frontometaphyseal dysplasia and it would appear that renal and respiratory tract abnormalities are part of the syndrome. Although sex‐linked inheritance has been considered the most likely mode of transmission of the disease, the segregation and clinical severity of the condition in this family could be equally well explained on the basis of dominant inheritance with varying expressively.
We present 2 families with 4 individuals suffering from congenital cutis laxa. Family A has a single affected male child with developmental delay and ligamentous laxity, making this only the second male of the total 15 patients so far reported with this particular syndrome. Family B has 3 affected males, 2 of whom have significant involvement of other systems. Only one of the 4 affected children had very obvious loose skin folds and dependency on this clinical feature alone could result in under‐diagnosis of this disease. The clinical features and family pedigree information suggests recessive inheritance in Family B but the mode of inheritance in Family A is inconclusive.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.