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.

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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.

SUMMARY We report two sibs with the clinical features of the Freeman-Sheldon syndrome. The parents were unaffected and consanguineous, suggesting recessive inheritance.

Male uniovular twins presented at the age of 20 years with spastic paraplegia which had been slowly progressing over the years. Both have skeletal anomalies of their hands and feet with brachydactyly, cone shaped epiphyses, and an abnormal metaphyseal phalangeal pattern profile. In addition, they have a non-specific dysarthria and lownormal intellectual ability. Hereditary or familial spastic paraplegia may be conveniently divided into the so-called pure type1 and the syndromic group in which spastic paraplegia is associated with other features.2 In the uncomplicated pure disease there is weakness and spasticity primarily involving the lower limbs, and with the exception of minimal sensory changes there are usually no signs in other body systems. This condition may be inherited in a variety of ways but dominant transmission appears to be the most common. The syndromic group has spastic paraplegia as a major feature but with other system involvement, for example, the skin, CNS, and optic tracts. They also show variable inheritance patterns. Although some skeletal abnormalities, for example, scoliosis, kyphosis, and pectus carinatum, have been reported in some of the recognised syndromes, there have been no reports of hand anomalies similar to those present in the twins in this report.

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.

SUMMARY Roberts syndrome is reported in two sibs of consanguineous parents. Both infants had severe tetraphocomelia, facial clefting, and other serious malformations. In addition they were found to have an unusual cytogenetic abnormality with distortion of the normal sister chromatid relationship in many chromosomes.

A fatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency is described in a patient who presented with hypoglycaemia and a gross non-ketotic dicarboxylic aciduria. Cultured skin fibroblasts released 14CO2 from [1-14C] octanoic acid at half the normal rate. Prenatal diagnosis was undertaken in a subsequent pregnancy in which cultured amniotic fluid cells revealed a marked reduction in octanoate oxidation indicative of an affected fetus. The pregnancy was terminated and the diagnosis was confirmed by enzyme analysis of skin fibroblasts taken from the fetus. The high residual octanoate oxidation by affected fibroblasts together with the absence of any characteristic abnormality of amniotic fluid organic acids are a potential limitation to the reliability of this type of prenatal diagnosis.