Biomedical subjects

I Hausser

Publications and source records attributed to I Hausser.

39 records · Page 3Linked to original sources

PubMedDate not supplied

[Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): case report and review of the literature].

The neonatal progeroid syndrome represents a complex of symptoms with unknown cause and pathogenesis. At 37 weeks of uncomplicated pregnancy a boy of non-consanguineous turkish parents was delivered by section. The weight of 1740 g and the length of 43 cm were striking, the circumference of the head was still within normal range. Further on the patient showed the diagnostic criteria of Wiedemann-Rautenstrauch syndrome: Beside growth failure and nearly absence of subcutaneous fat, old-looking face with hydrocephalic appearance, prominent scalp veins and sparse scalp hair, large hands and feet with long fingers and toes were found. Neonatal teeth didn't exist. But neonatal teeth are not always present in this syndrome. Among 19 published cases they were also not described in 6 cases (31.6%). Cataract was not found. A skin biopsy taken at the age of four months revealed an extremely thin dermis with pronounced rarefication of elastic material by light microscopy. On the electron microscopical level, no qualitative morphological aberrations or signs of degeneration were found, but normal although very small elastic fibres. With increasing age the appearance was nearly unchanged. In spite of high-caloric nutrition the increase of weight was not sufficient. The clinical symptoms of this patients were compared with the 19 already published cases of Wiedemann-Rautenstrauch syndrome. This shall be a contribution to the exact description of that extremely rare syndrome. We hope to facilitate, that hereby the differential diagnosis in difficult cases will be more easy. Because of heterogeneity it has to discuss if the Wiedemann-Rautenstrauch syndrome really represents a separate genetic entity within the group of premature aging syndromes.

Biopsy↗

PubMedDate not supplied

Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome.

We examined skin biopsy specimens from 17 of 19 newborns or infants with generalized ichthyosiform, exfoliative, seborrheic, or psoriasiform erythroderma. The specimens showed similar characteristic but nonspecific and therefore, at first sight, uninformative histologic features. Morphologically, the skin was affected overall with a persistent outbreak of eczema-like eruptions of subacute or chronic dermatitis. Pronounced dermal inflammatory processes were obvious by their perivascular and interstitial presence as well as exocytosis of lymphocytes, macrophages, and neutrophils. Epidermal barrier function was Impaired by the highly suppressed terminal differentiation, with thin or in part completely absent stratum corneum, decrease of keratin filaments, decrease or lack of keratohyalin granules, and of keratinosomes containing stacks of lipid membranes. As a result, the formation and discharge of epidermal barrier lipids from the keratinosomes that normally provide intercellular lamellar sheets at the granular-horny layer interface contributing to the epidermal barrier, was highly disturbed. The concomitant loss of water, electrolytes, and proteins by fluid exudation caused the patients severe metabolic problems and recurrent infections. The suspicion of Netherton syndrome was eventually confirmed in 18 patients by light microscopic demonstration of bamboo hairs (trichorrhexis invaginata), mostly from the scalp, but also in vellus hairs and eyelashes. Atopy actually belongs to the symptom triad defining Netherton syndrome and is, in our opinion, primarily responsible for the pathologic events within the skin and of the keratinizing parts of the growing hair shafts. Differential expression of the atopic condition determines the appearance of the keratinization disorder of the skin, namely, severe, generalized, exfoliative erythroderma or milder forms of ichthyosis linearis circumflexa Comèl. Retinold treatment seems to be contraindicated in these conditions since their biopharmacologic effects involve suppression of terminal differentiation, which is the proper pathognomonic event. In six patients the condition had a fatal course within months because of hypernatremia, recurrent infections, failure to thrive, and sepsis. Our aim is to call attention to and reaffirm that in congenital or early infantile cases of generalized exfoliative erythroderma. Netherton syndrome should be suspected as the underlying disease.

Child, Preschool↗

PubMedDate not supplied

Preclinical diagnosis of pseudoxanthoma elasticum - methodological restrictions and ethical problems.

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disease. Only recently, mutations in the MRP6 gene on chromosome 16p13.1 have been identified in PXE families. Up to now, predictive testing has not been available. Since ultrastructural connective tissue alterations in overtly normal skin of predilection sites have supported preclinical diagnosis in children of affected individuals, we have screened the daughters of a PXE patient for these alterations. The patient's biopsy from lesional skin revealed elastin and collagen fibril abnormalities, but biopsies from the clinically inconspicuous daughters showed only ultrastructural alterations of collagen fibrils. These findings are inconclusive regarding the diagnosis of PXE in the daughters. Predictive or preclinical diagnosis of incurable, late-onset disorders creates complex social, ethical, and legal problems which call for special management strategies.

Adult↗