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Rud's syndrome is a neuroichthyosis with hypogonadism, associated with mental deficiency and epilepsy. Short stature is a frequent component of the syndrome. The primary genetic defect and the pattern of inheritance have not yet been determined. A typical patient is presented, with mental deficiency, short stature, pypoacusia, muscular atrophy, tylosis, pseudoacanthosis nigricans and endocrine disturbances. The neuroichthyosis with hypogonadism must be considered Rud's syndrome. A classification of neuroichthyosis is proposed. In a first group is neuroichthyosis with hypogonadism, in the second group is neuroichthyosis with spasticity and in the third group, neuroichthyosis without hypogonadism or spasticity.

A unique form of congenital ichthyosis in two unrelated patients is described and characterized histologically by separation of the epidermis between the stratum corneum and the stratum granulosum. The clinical history, genetics, serially performed skin biopsies, and biochemical studies are reviewed. This form of ichthyosis is different from previously described entities. Lifelong peeling of the general body epidermis, pruritus, short stature, easily removed anagen hairs, and the ability to easily mechanically separate stratum corneum from the rest of the epidermis characterize the syndrome. In two families with this disorder, autosomal recessive inheritance is suggested. A low plasma tryptophan level as present in two patients with this disease. This inherited disorder of the epidermis was first described in 1924 before the genetics and histology of ichthyosis were extensively studied and is a distinct genetic and clinical entity to be considered in unusual cases of ichthyosis.

A critical study of 69 cases of collodion baby observed between 1976 and 1984 is compared with the study conducted in 1976. These 69 cases are divided into 32 examined by the authors personally and 37 published in the literature. The total number of collodion babies is 267. A collodion baby is a high risk newborn who must be nursed in a specialized intensive care unit during the neonatal period. The vital prognosis has been improved by the prevention of metabolic disorders (dehydration with hypernatraemia) and of percutaneous intoxication with topical products, and by the early treatment of infections. The mortality rate, which was 33 p. 100 in 1976, had fallen to 11 p. 100 in 1984. Skin infection with systemic spread remains the major complication (the present situation is summarized in table II). The collodion baby is the neonatal expression of different disorders of keratinization and as such, constitutes a syndrome. Several conclusions can be drawn from a comparison of the keratinization disorders observed in our two series (table VI). Congenital ichthyosiform erythroderma and lamellar ichthyosis are responsible for 60 p. 100 of collodion babies. These two lesions may be the first signs of an ichthyosis transmitted as an autosomal dominant trait in 9.7 p. 100 of the cases. Trichothiodystrophy may be heralded by a collodion baby syndrome. In 9.7 p. 100 of the cases this syndrome disappears without sequelae. Sex-linked ichthyosis never begins with a collodion baby syndrome.

A case of congenital ichthyosis hystrix gravior combined with non-progressive inner ear hearing loss bordering on deafness is reported. None of the syndromes of keratinization disturbances combined with hearing loss of the inner ear known up to now is comparable. The patient was examined by the dermatologic and otorhino-laryngologic clinics. The findings were presented at the "Südwestdeutschen Dermatologen-Kongress in Heidelberg 1976". Particular otologic findings were a non-progressive inner ear hearing loss bordering on deafness, a fungus-covered cell detritus in the cartilaginous part of the external ear canal, and hyperkeratosis of the auricula. Specific dermatologic findings were skin hyperkeratoses most prominent on face and extremities. In it's ultrastructure, this type is basically different from all other types of inherited ichthyoses that have been studied by electron microscopy. Combined with a lack of normal tonofilaments, an unusual synthesis of large amounts of mucous granules is present under the large spines that is not normally found in healthy skin. No other members of the family are affected.

Two siblings had what we believe to be a unique disorder manifested by stationary congenital ichthyosiform erythroderma coupled with a slowly progressive spastic weakness of adult onset. The disorder was presumably inherited as an autosomal recessive trait. The mechanism by which a genetic mutation would mediate this multiple organ system disorder is unknown.

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.

Successful therapy of a genetic disorder, Ichthyosis Linearis Circumflexa, was achieved using a low dose systemic cyclophosphamide. Prior to such therapy, 80 to 90% of the body surface was affected; the use of antimitotic agents reduced the extent of the lesions to less than 15% of the body surface. As a result, the clinical status was changed from severely disabling to being compatible with a normal way of life. It is believed that this phenomenon is related to selective effects of cyclophosphamide, such as those on lymphocyte subpopulations. To our knowledge, successful chemotherapy for diseases of genetic or congenital origin has not been previously reported.

The Sjögren-Larsson syndrome (SLS) is characterized by congenital ichthyosis, spastic dior tetraplegia and mental retardation. The inheritance is autosomal recessive. All 36 patients with SLS alive in Sweden in 1980 were studied with regard to ichthyosis. A slight or moderate generalized hyperkeratosis, less pronounced in the face, was already present at birth. Collodion-like membranes were never seen. The ichthyosis developed to its full extent during infancy. It was sometimes slight but most often moderate. Three types occurred in various combinations. The skin changes were concentrated in the neck, flexures and lower abdomen, in which regions the scales were often dark. The non-scaly hyperkeratosis produced characteristic and easily visible skin markings. Generalized erythema was rare, especially in adults. The DNA synthesis of the epidermis and the production of a horny layer were increased. Hair and nails were normal, as also was the ability to sweat.

We describe four patients with congenital follicular hyperkeratosis, of whom three also had pseudoacanthosis nigricans and two had facial abnormalities. Skin specimens were studied by light microscopy, autoradiography, histochemistry and scanning electron microscopy, and the results were compared with those from patients with keratosis pilaris. The condition appears to constitute a distinctive form of ichthyosis in which the abnormal epidermal differentiation occurs mainly within the hair follicles.

A syndrome with severe generalized congenital ichthyosis, alopecia, eclabion, ectropion and mental retardation without neurological symptoms or macular changes in the eyes was seen in two sibs and in two aunts and uncles in an inbred North-Swedish family. The clinical picture of the patients in the present family strongly deviated from that seen in the Sjögren-Larsson syndrome found in the same area. This could be a new syndrome with autosomal recessive inheritance.

Examination of 530 dermatoglyphic patterns of the palms and fingers in 265 patients with 5 nosologic forms of hereditary ichthyoses (autosomal dominant ichthyosis vulgaris, X-linked, congenital, lamellar, epidermolytic ichthyoses) have revealed significant differences in the pattern intensities and in the incidence rate of certain types of these patterns, associated with this or that form of ichthyosis; abnormalities in the flexor wrinkles of the ridge skin have been observed in all the studied forms of the disease, except the X-linked condition. The studies have revealed an abnormal roughness of the papillae on the epidermal ridges in epidermolytic ichthyosis and an obliterated dermatoglyphic pattern in lamellar ichthyosis. The detected changes in the ridge skin and the dermatoglyphic phenotypes may be useful for the differential diagnosis of these conditions.

Histologic characteristics of the placentas in four cases of amnion nodosum and congenital ichthyosis, a rare association, are presented. Two cases were missed abortions of a single multiparous woman, supporting the hypothesis that in congenital ichthyosis amnion and skin share an abnormal genetic trait. As the amnion showed no hyperkeratosis, it is likely that the amniotic lesions are related to an increased deposition of keratotic plugs on the amnion. Oligohydramnios was verified in two cases; urinary tract malformations were absent in all. The histologic characteristics of the placentas were similar. Noteworthy was the aspect of the chorionic vessels, whose lumens were reduced or obliterated. Perhaps this feature contributed to the poor nutrition of the amnion, a fact assumed by some authors to explain lesions of amnion nodosum. As these vascular alterations are common after fetal death, it is only in the placenta of the newborn that the vascular changes, compatible with rubella vasculitis, may have altered the nutrition of the amnion.