Variable clinical presentation of cutis laxa.

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.

Evidence of genetic factors in hidradenitis suppurativa.

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.

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

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.

Four brothers with mental retardation, spastic paraplegia and palmoplantar hyperkeratosis. A new syndrome?

We report a Caucasian family in which four males out of a total of seven siblings are mentally retarded. Three of the affected individuals have spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet and an abnormal gait. In addition, they show palmar and plantar hyperkeratosis. The other male sibling does not have spasticity, but his lower limb reflexes are abnormally brisk and he has slight pes cavus deformity. He also shows hyperkeratosis of his palms and soles and is less mentally retarded that his brothers. The mother of the affected boys has normal intelligence, but has plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters are normal. The pedigree information is compatible with a sex-linked mode of inheritance and no specific biochemical or cytogenetic abnormality has been found in the affected individuals. There have been no previous reports of hyperkeratosis palmaris et plantaris in other inherited spastic syndromes.

Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome.

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 congenital 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 fronto-metaphyseal 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 expressivity.