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Abstract Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but ultrasonography in places was not available.

The first case of invasive squamous cell carcinoma (SCC) arising in the skin of a patient afflicted with keratitis, ichthyosis, and deafness (KID) syndrome is reported. A 35-year-old man, diagnosed as having KID syndrome in early childhood, developed bilateral fungating lesions on his feet. The entire left foot became involved with a multinodular fungating mass which proved to harbor a SCC, necessitating a left below-knee amputation. Although rare, KID syndrome can be associated with SCC of the skin.

Thirty-six Swedish patients with the recessively inherited Sjögren-Larsson syndrome (SLS) were examined by histopathologic and, in some cases, morphometric techniques. Skin biopsy specimens were taken on the volar side of the right forearm below the cubital fossa. The histopathological picture was characterized by a moderate to pronounced hyperkeratosis that could include follicular hyperkeratosis. The stratum granulosum was thickened. There was acanthosis and usually some papillomatosis. These observations were in accordance with the morphometric measurements. There was often a slight, chronic infiltrate in the upper dermis. The ichthyosis in SLS can be included in the recessively inherited, congenital group, with a seemingly lower tendency to parakeratosis.

An infant with congenital ichthyosis and deafness developed Hirschsprung's disease. No evidence of keratitis was present. No previous cases of ichthyosis have been associated with aganglionic megacolon. Although no corneal changes were observed, we believe that the clinical features of ichthyosis and deafness suggest the diagnosis of KID (keratitis, ichthyosis, deafness) syndrome. Whether corneal changes would have occurred is unknown, since the infant died of malnutrition and infectious complications.

In 1981 Skinner et al (1) proposed the term KID syndrome for a previously disparate group of congenital disorders principally made up of keratitis (K), ichthyosis (I), and deafness (D). The coexistence of congenital deafness associated with ichthyosis had been previously recognized (2,3), yet similarities among affected patients were overlooked because of both the paucity of cases and their seeming diversity. The patient reported by Skinner is similar to one whom we have been following at the Clinique Universitaire de Dermatologie in Geneva since 1978. After having reviewed the literature, we believe that KID syndrome is a useful, unifying clinical term.

Several events of hypernatremic dehydration occurred in five infants suffering from severe congenital lamellar ichthyosis. Simultaneously, four of them developed hypothermia. Both phenomena were probably caused by excessive water loss through the affected skin. In lamellar ichthyosis the skin loses its function as an effective barrier and therefore its role in water and temperature homeostasis is defective.

Epidermal keratinocytes separated from skin lesions of non-bullous congenital ichthyosiform erythroderma were investigated in an attempt at experimental reproduction of this keratinization disorder. In vitro studies on growth and differentiation of pathological keratinocytes isolated from the influence of the host's dermal and humoral components were performed using the immersed epidermal cell culture technique. Ten to 25-day-old confluent and stratified cultures were examined by means of photonic and electron microscopy, and stained with various differentiation markers for indirect immunofluorescence studies. The cultured epidermis showed low-grade differentiation and no clear-cut evenly distributed signs of the original disease. Grafting on congenitally athymic nude mice allowed further differentiation of the epidermal sheets and re-expression of the histologic and ultrastructural features of non-bullous congenital ichthyosiform erythroderma. Thus, the purely epidermal origin of this particular form of autosomal recessive ichthyosis could be confirmed. Large amounts of pathological keratinocytes generated from small skin biopsies may be used for experimental purposes after grafting on several athymic animals.