Cyclosporine in lamellar ichthyosis.

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.

Ichthyosis, deafness, and Hirschsprung's disease.

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.

Re-expression of disease-characteristic features of non-bullous congenital ichthyosiform erythroderma (CIE) after grafting of the pathological keratinocyte cultures to athymic mice.

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.

Psoriasis occurring in lamellar ichthyosis: response to Epilyt.

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.

[Dermatoglyphic characteristics in hereditary ichthyosis]. / Osobennosti dermatoglifiki pri nasledstvennom ikhtioze.

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.

[Harlequin fetus--a case report].

A one-day-old male premature baby was born to a G4P4 mother with the gestation age of 30 weeks. His birth weight was 2000 gm. He was noted to be covered with a thick, armor-like skin which is split by deep fissures and makes the feature of Ectropion and eclabium. His nose was flattened, only the nostrils were visible, and the external ears were underdeveloped. The hands and feet appeared to be swollen and crumpled. The genital organ was covered with thick fissured skin and it was impossible to distinguish sex by external appearance. Three days after delivery, the patient died of respiratory distress. He was found normal through general laboratory and chromosome study. However, dermatohistology showed hyperkeratosis, focal parakeratosis and hypogranulosis. Pathology showed PDA (patent ductus arteriosus), enlarged thymus and congestion of internal organs. Its etiology and pathogenesis somehow remain unknown. We hereby reported this harlequin fetus, the most severe type of lamellar ichthyosis, and discussed its incidence, pathogenesis, pathohistology, prognosis and the recent development in treatment.

Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma.

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.

The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: morphologic and biochemical studies.

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.

[Congenital neuroichthyosis and psychiatric involvement. Apropos of a case]. / Neuroichtyose congénitale et intrications psychiatriques. A propos d'un cas.

Sjögren-Larsson syndrome is a rare disorder of childhood characterized by ichthyosis, mental retardation, and spastic paraplegia. The authors report the case of a patient presenting a congenital neuroichtyosis and psychotic disorders, and discuss the nosology of their case.

Bebê colódio: relato de um caso

Os autores apresentam uma forma típica de ICTIOSE CONGENITA, que acometa o recém-nascido, descriçäo de uma forma rara "Bebê Colódio", sua evoluçäo, prognóstico e tratamento

Ichthyosis congenita type III. Clinical and ultrastructural characteristics and distinction within the heterogeneous ichthyosis congenita group.

We describe one type of the heterogeneous ichthyosis congenita group, inherited autosomal-recessively, noting its clinical and ultrastructural features based on the findings in a female patient, aged 30 at the time of first clinical and ultrastructural investigation, and supplemented with those of eight further patients, aged 2 to 22 years. Clinically this keratinization disorder was characterized by a generalized congenital ichthyosis with a reticulate skin pattern pronounced in a variable degree of severity, also involving the large flexures and the face, palms, and soles. Typical ultrastructural criteria were membrane structures, abnormal vesicular keratinosomes, vesicular complexes, and membrane-bound vacuoles within the cytoplasm of the granular cells, partly retained in the horny layer. A successful therapy with retinoids resulted in a complete removal of the hyperkeratoses but left the striking skin pattern unchanged. The morphological peculiarities remained unaltered as well. They are independent of the localization of the biopsies, of age and sex of the patients, and of oral and local treatment. Based on the clinical and ultrastructural features, this scaling disorder can be delineated against all other inherited ichthyoses and was termed ichthyosis congenita type III. A new nomenclature contributing to a distinct classification within the heterogeneous ichthyosis congenita group is discussed.

[A combination of Duchenne's progressive muscular dystrophy with congenital ichthyosis--a deletion or 2 independent gene mutations at Xp21--Xp22?]. / Sochetanie progressiruiushchei myshechnoi distrofii Diushenna s vrozhdennym ikhtiozom--deletsiia ili dve nezavisimye gennye mutatsii v Xp 21--Xp22?

The authors describe a combination of Duchenne muscular dystrophy and congenital ichthyosis in a 6.5-year-old boy. This is the first ever description appearing in the world literature. The authors discuss possible variants of mutation (either chromosomal aberration or two independent gene mutations in chromosome 21).