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Four members of a consanguineous family showed a congenital disorder characterized by an ichthyosiform dermatosis, sclerosing palmoplantar keratoderma, and multiple keratotic papules arranged in bands with a linear, cordlike distribution. This association seems to represent a distinct entity. The differential diagnosis is described.

In an open trial, five patients with lamellar ichthyosis showed no response to four weeks of treatment with oral cyclosporine (cyclosporine A) (6 mg/kg/d). Histologic examination of lamellar ichthyosis revealed hyperkeratosis; psoriasiform acanthosis; dilated, tortuous capillaries; and a slight perivascular lymphocytic infiltrate. Immunofluorescence studies revealed, in the epidermis, normal numbers of T6+DR+ Langerhans' cells and an absence of T cells and intercellular adhesion molecule-1 expression. In the papillary dermis, there were prominent capillaries as detected by staining with anti-factor VIII-related antigen. The endothelial cells also expressed large amounts of HLA-DR and intercellular adhesion molecule-1, suggesting that they were activated. Only occasional Langerhans' cells were found in the dermis. Histologic and immunofluorescence findings were unchanged with cyclosporine therapy. The effects of cyclosporine on lamellar ichthyosis are contrasted with those reported for psoriasis. Since lamellar ichthyosis and psoriasis share similar features of epidermal hyperproliferation and the presence of activated, dilated, tortuous vessels, but differ in the lack of immunologic cellular activity, their contrasting response to cyclosporine suggests that the target of the action of cyclosporine is the immune system rather than the keratinocyte or the endothelium. However, other factors may have to be considered.

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.

This is a report on two children with a syndrome characterized by an extensive congenital ichthyosiform eruption, neurosensory deafness, hypotrichosis, partial anhidrosis, and vascularization of the cornea. The facial involvement is distinctive. Other features are dystrophy of the nails and tight heel cords. Both children are of normal intelligence. The inheritance pattern is unknown.

Ichthyosiform erythroderma is a rare phenomenon occurring in about 1/300,000 live births. Congenital unilateral ichthyosis, described in this case report, is a clinical variant of ichthyosis. Only five previous cases have been reported. In the patient described in this report, superimposed infection of the affected skin developed. Her immunologic system was intact. She manifested failure to thrive, in spite of an adequate caloric intake, and markedly delayed psychomotor development. This patient also demonstrated absorption from the affected dermis of topically applied urea hydrophilic base ointment. She died before her first birthday.

The authors report the case of a seven year old girl originally diagnosed as a case of congenital ichthyosiform non-bullous erythroderma (Brocq). Further specific examination of the hair led to a final rare dual diagnosis of congenital ichthyosiform non-bullous erythroderma and Netherton's disease.

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.

Psoriasis occurring in a patient with lamellar ichthyosis is reported. Similar self-limited episodes had occurred earlier. On histopathologic examination of a biopsy specimen, an eruptive plaque showed parakeratosis and a reduction in the granular layer. Electrophoretic analysis of the keratins isolated from the epidermis of a plaque showed a reduction in the amount of the 67 kd polypeptide compared to the keratins of ichthyosis epidermis. Both of these findings support the diagnosis of psoriasis. Epilyt, applied daily, was effective in removing scales.

Extradural analgesia is well established for relief of pain but in certain cases unusual difficulties may be encountered. We report our experiences of a patient with congenital ichthyosis who required extradural analgesia for the relief of pain in labour.

A 57-year-old female patient has had generalized cutaneous lesions since birth. Clinically there are patch- and band-like areas of erythrokeratotic and pigmented skin in reticular arrangement. The most important histological findings are band-like parakeratosis, psoriasiform acanthosis, vacuolization of the keratinocytes in the upper layers of the epidermis with a high frequency of binuclear cells, and deposits of amyloid in the dermis. Ultrastructurally, the formation of perinuclear shells built from a three-dimensional network of fine filaments is the most peculiar finding. Binuclear cells are frequently found from the first suprabasal layers. Oedematization of the perinuclear cytoplasm within the shells finally leads to vacuolization of the uppermost granular cells. The horny layer is parakeratotic and contains debris of nuclei and lipid vacuoles. In the clinically normal appearing skin within the reticular network, keratinization occurs in a completely normal fashion. In spite of a good response to retinoid treatment, perinuclear shells and binuclear cells remain demonstrable in involved regions. The clinical, histological and ultrastructural peculiarities of this case suggest the diagnosis of a special type of congenital disturbances of keratinization, which can be clearly distinguished from the well-known ichthyosiform dermatoses and other inborn errors of keratinization.

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.

Two unrelated children presenting with mental and physical retardation and sulphur deficient brittle hair are reported. These are thought to be further cases of the autosomal recessive neurotrichocutaneous syndrome of Pollitt, of which eight cases have been previously reported.

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.

The first born offspring of first-cousin parents was affected with a keratinization disorder thought to be nonbullous congenital ichthyosiform erythroderma (CIE). In each of three subsequent pregnancies, the parents elected to have prenatal diagnosis based on evaluation of fetal skin biopsies. The epidermis of fetus 1 was identical to normal 21-wk estimated gestation age (EGA) fetal epidermis, but because keratinization begins normally around 24 wk EGA, the procedure was repeated 4 wk later. A thin epidermis with a few layers of stratum corneum indicated a normal fetus and a healthy infant was born at term. Skin biopsy samples from fetus 2 gave conflicting results; the epidermis of one sample appeared normal but the second had 5-15 layers of incompletely keratinized cells superficial to basal and intermediate layers. The hair canals of both samples were hyperkeratotic. Pelleted amniotic fluid cells contained aggregates of incompletely keratinized epidermal cells and concentric rings of keratinized cells. The fetus was thought to be affected and the pregnancy terminated. Regional variation in epidermal thickness and keratinization was noted upon gross examination of the fetus and by histology of the skin. Marked hyperkeratinization of follicles was evident in all regions. No abnormal keratins were expressed in the affected epidermis but epidermal lipids analyzed from two body regions had a lower triglyceride content and a higher content of free sterols compared with age-matched, normal fetal epidermis. Immunolabeling for markers of differentiation revealed variable stages of epidermal differentiation according to region. Four structurally identical biopsy samples were obtained from a third fetus. The epidermis appeared normal for age and hair canals were keratinized to various extents. The pregnancy was continued and at 33 wk a male infant was born with a severe ichthyosis of the face and scalp and fine, white scaling on the body. The epidermis of both the severely and mildly affected regions of the newborn had a thick, compact stratum corneum and other features of CIE. Scars from all four fetal biopsies were identified on the trunk, in areas which appeared less affected clinically. This study reports, for the first time, the criteria for prenatal diagnosis of CIE and the variable expression of this disorder in the midtrimester fetus. More importantly, it demonstrates the risks and pitfalls of this in utero diagnosis based on epidermal morphology.

Acquired ichthyosis is very likely to be associated with a malignancy, especially with Hodgkins disease. The association of congenital ichthyosis with malignant tumors has been so far reported only in two instances. Herein we report on a third case. Due to the small number of cases, no conclusion can be drawn about the correlations between the two diseases.

A family with a history of ichthyosis is described in which the type of scale was thin and fine, resembling that of ichthyosis vulgaris, but the inheritance is of the autosomal recessive type. We have reviewed our previous experience with 42 additional patients whose condition had been diagnosed as recessively inherited ichthyosis and conclude that there is considerable heterogeneity in the cutaneous manifestations. We suggest that it is not possible to classify all patients into categories such as lamellar ichthyosis or congenital ichthyosiform erythroderma, and it may be better to use a more general term such as recessive ichthyosis until specific causes can be established.

A 3-year-old boy with nonbullous congenital ichthyosiform erythroderma with a four-month history of scabies was treated with a single dose of lindane cream. In a 48-hour period, he developed nausea and vomiting and also suffered from an epileptiform convulsion and muscular spasms. Seventy-two hours after application of the cream, his blood lindane level was 54 ng/mL. Caution should be exercised when using lindane in patients with compromised epidermal barrier function.