[Restrictive dermopathy: a rare, lethal genodermatosis]. / Restrictieve dermopathie: een zeldzame, letale genodermatose.

In a premature male infant born of consanguineous parents, restrictive dermopathy was diagnosed. This is a rarely described, lethal, congenital skin disease. The diagnosis was based on the clinical and histopathological findings: a fixed facial expression (so-called 'porcelain face') with palpebral fissures inclined laterally downwards, microstomia with the mouth in the 'O'-position, micrognathia and low-set ears inclined toward the rear, prominent blood vessels in the skin and contracture of all the joints; histopathological examination of a skin biopsy revealed a smooth epidermis and a relatively thin dermis with an abnormal structure of the dermal connective tissue in which the collagen fibres were arranged more or less horizontally, parallel to the epidermis, and the number of elastin fibres was sharply decreased. Various adnexal structures were present but the hair follicles had an abortive appearance. Thanks in part to the finding of a homozygous mutation in the so-called ZMPSTE24-gene, it could be concluded that restrictive dermopathy is probably an autosomal recessive laminopathy, related to progeria. Increasing the clinical awareness of this disease may contribute to reducing the presumed under-reporting, so that future research will become possible.

Is PPD a useful screening agent?

In this study, the usefulness was assessed of para-phenylenediamine (PPD) base as a marker for contact allergy to para-compounds and disperse dyes. 59 patients with a positive reaction to PPD were patch tested with a series of para compounds and disperse dyes. This dyes series was also tested in patients with a suspect medical history of contact allergy to hair, fabric or leather dyes. In total 610 patients were tested. As 24 patients became positive over the weekend, late readings, day 6 or 7, are important. These reactions were most probably relevant in 17/24 patients. Positive reactions to PPD correlated well with reactions to para compounds like p-aminoazobenzene and p-toluenediamine sulphate but not with disperse dyes. Reactions to Disperse Blue (106, 124) and Orange (1 and 3) were seen most frequently. PPD is a good screening agent for hair dye, but not for disperse dye, sensitivity.