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Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in the gene coding for the tight junction protein claudin-1. Only four patients carrying the same mutation of the CLDN1 gene have been described until now. We report a patient presenting with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the CLDN1 gene., ((c) 2006 Wiley-Liss, Inc.)

We describe a man with generalized congenital ichthyosiform dermatosis, severe cheilitis, and palmar and plantar hyperkeratosis with superficial blistering. Low-dose acitretin therapy induced areas of peeling skin, similar to that seen in the peeling skin syndrome. Histologically, the skin was moderately hyperkeratotic and the palmar blisters were subcorneal. Electron microscopy revealed that the splitting occurred within the desmosomal plaque. Ultrastructural and biochemical investigations indicated epidermal hypervitaminosis A, probably related to alteration of epidermal retinoic acid metabolism. This disease is proposed as a hitherto unreported variant of the peeling skin syndrome.

Five spontaneously healing collodion babies were recorded in a large Swiss kindred. They all had consanguineous parents. Their distribution in the family indicates autosomal recessive inheritance. At birth they had the typical features of collodion babies. The collodion-like membrane was shed within the first month, leaving a slightly scaly skin for a few weeks. Thereafter the skin remained normal without any evidence of a disorder of cornification.

3 patients with lamellar ichthyosis have been treated orally with the aromatic retinoid Ro 10-9359 for periods of more than 2 years. This treatment resulted in a satisfactory improvement in the skin condition without any major side-effects. A light- and electron-microscopic study showed a marked decrease in the thickness of the lamellar stratum corneum without giving any clues concerning the mechanism of the therapeutic effect of this drug.

A case of 'peeling skin syndrome' is reported. We have demonstrated a hitherto unreported keratohyalin abnormality and a four-fold increase of cellular retinoic acid binding protein, in one of two biopsies from an erythematous, scaling lesion.

A family in which the mother and six of her sons present an ichthyosis of the vulgaris type has been analysed clinically, histologically and electron microscopically. Phenotypically the ichthyosis in the mother is purely of the dominant type, while that in all the affected sons shows, to varying degrees, features of both the dominant and X-linked recessive variants. The findings are interpreted as reasonably good evidence that the mother has transmitted to all her affected sons both the autosomal dominant and the X-linked recessive genes for ichthyosis. Although genetically this is a most unusual situation, it corresponds best to our findings.

Skin biopsies from a collodion baby, spontaneously healing at the end of the third month, were taken on the 1st and 15th day after delivery and examined by light and electron microscopy. The microscopical features observed were different from those known to occur in collodion babies evolving into lamellar ichthyosis and may contribute to a more precise, early diagnosis and prognosis of this heterogeneous neonatal syndrome.

Two collodion baby girls with disorder evolving into lamellar ichthyosis were followed by light and electron microscopy. Light microscopically, the neonatal colloidion skin was characterized by a thick compact stratum corneum which was PAS positive in its upper two thirds, by a thin stratum granulosum and by a non-acanthotic stratum spinosum with normal mitotic activity. Electron microscopically, the upper stratum corneum appeared pathological, whereas the lower part was normal except for some minor parakeratosis. The main alterations in the underlying stratum granulosum were diminished tonofibrils and keratohyalin. Biopsy specimens taken at the age of 2 weeks were typical for lamellar ichthyosis and showed hyperkeratosis with focal parakeratosis, a thickened stratum granulosum in which the cellular content of keratohyalin and tonofibrils was moderately diminished, and acanthosis with increased mitotic activity. It appears that the ultrastructural changes of the stratum granulosum, seen in lamellar ichthyosis, are already present in the collodion skin of the newborn, at a time when the epidermis does not yet show an increase in mitotic activity.

A generalized ichthyosis with an associated spastic syndrome of the lower extremities, clinically suggestive of Sjögren-Larsson syndrome, was observed in a Tunisian boy. The fatty acid analysis of the serum phospholipids revealed significant abnormalities in the fatty acid pattern of phospholipids. However, the alterations observed were different from those reported in Sjögren-Larsson syndrome. We report light and electron microscopic changes in the ichthyotic skin of this patient, which have not been previously reported in lamellar ichthyosis and in Sjögren-Larsson syndrome. The epidermis was moderately hyperplastic and covered with a thick, compact, orthokeratotic stratum corneum. The stratum spinosum was strikingly altered in some areas. Varying numbers of keratinocytes contained big vacuoles, measuring often up to the size of the nuclei; the vacuoles, were well limited but only partially lined by a membrane, they were empty or contained small amounts of a flaky material. Attempts to stain the vacuoles with PAS, Alcian blue and Fettrot were negative. Etretinate treatment produced a marked shedding of the horny layer without significant improvement of the clinical appearance. The described microscopical alterations of the epidermis remained mostly unchanged during treatment, but, in addition, a marked oedema and vacuolisation of the upper stratum granulosum was observed.

The prevalence of keratosis pilaris and accentuated palmoplantar marking was evaluated in 61 patients with atopic dermatitis, 35 patients with dominant ichthyosis vulgaris and 247 other dermatological cases taken as controls. Our data showed that (1) these features are of no diagnostic significance for atopic dermatitis and (2) they are significantly more frequent in patients with ichthyosis vulgaris without associated eczema than in those with atopic dermatitis. Consequently, they should be considered as part of the phenotype of ichthyosis vulgaris rather than attributed to a concomitant atopic dermatitis as suggested by some. These findings should be taken into account when evaluating atopic dermatitis or ichthyosis. To assess the frequency of scaling under winter weather conditions, 155 control subjects were also examined for evidence of visible desquamation and 25.8% showed slight but definite scaling.

A family with ichthyosis, severely affecting both men and women, is reported. The clinical, histological and genetic data are strongly suggestive of X-linked recessive ichthyosis. Assay of steroid sulphatase in cultured skin fibroblasts from two ichthyotic female patients revealed an absence of this enzyme and thus confirmed this diagnosis. To our knowledge, this is the first report of proven X-linked recessive ichthyosis in women.

Discusses the therapeutic properties of urea. Treatment of ichthyosis with a cream containing urea; Use of urea as a topical agent; Dermatological benefits of urea.