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Biomedical subjects

E Frenk

Publications and source records attributed to E Frenk.

At least 109 records · Page 6Linked to original sources
PubMed1982

The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome.

The albinotic skin and hair of 2 patients with Hermansky-Pudlak syndrome were investigated by light and electron microscopy. Incubation of hairbulbs and epidermis in 1-dopa revealed a weak tyrosinase activity. The epidermal melanocyte population was of normal density. The most striking feature was the presence of numerous giant melanosomes resembling those mainly reported in various hyperpigmented skin lesions. The association of this melanosomal disorder with the platelet dysfunction and ceroid storage typical of the autosomal recessive Hermansky-Pudlak syndrome might provide new insights into the mechanism leading to formation of giant melanosomes.

Adult↗
PubMed1981

Disseminated spiked hyperkeratosis. An unusual discrete nonfollicular keratinization disorder.

An unusual nonfollicular keratinization disorder was observed in a father and his son, and in an unrelated woman. The disorder began during the second decade of life and gradually became more widespread and more pronounced thereafter. The dermatosis is characterized by tiny, rough, keratotic spikes giving the skin a raspy fell on palpation. Microscopically, the lesions showed a thick compact corneum without structural changes in the underlying epidermis except for moderate epidermal cell hyperplasia and some reduction in keratohyalin content.

Adult↗
PubMed1981

X-linked recessive ichthyosis in three sisters: evidence for homozygosity.

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.

Adult↗
PubMed1981

A spontaneously healing collodion baby: a light and electron microscopical study.

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.

Humans↗
PubMed1981

[Oral treatment of lamellar ichthyosis (non-bullous congenital ichthyosiform erythroderma) with an aromatic retinoid (author's transl)].

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.

Administration, Oral↗
PubMed1980

[Irreversible depigmentation of the skin following acute contact eczema caused by adhesive plaster].

Cutaneous depigmentation due to adhesive plaster was observed in four patients. It occurred after an eczematous reaction, was irreversible and strictly limited to the contact area. There is evidence that the depigmentation was induced, at least in two patients, by the polyvinyl/rubber-plastic sheet of the adhesive plaster. Patch tests and animal experiments did not permit to identify the depigmenting component or contaminant of the plastic sheet. Light- and electron microscopy showed a complete disappearance of the epidermal melanocytes in the depigmented skin. During the first year after damage, they were mostly replaced by indeterminate cells. Later on the predominant basal non-keratinocytes of the epidermis were Langerhans cells.

Animals↗
PubMed1978

Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family.

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.

Adolescent↗
PubMed1978

[Experience with the photochemotherapy of psoriasis in Lausanne (author's transl)].

The results of photochemotherapy of psoriasis with oral 8-methoxypsoralen and long-wave ultraviolet light reported here are comparable to those observed in other centers using the same method of treatment. An average of 17-20 treatments was required to obtain clearing; 99-100% clearing was obtained in nearly 90% of the treated patients.

Administration, Oral↗
PubMed1977

[Familial oculo-cutaneous hypopigmentation of dominant transmission due to a disorder in melanocyte formation. Association of Prader-Willi syndrome with a chromosome abnormality in one of the subjects involved].

Four members of a Swiss family were affected with oculo-cutaneous hypopigmentation of dominant transmission which differed from the previously described cases of dominant oculo-cutaneous albinism by its ultrastructure. The hypopigmentation described here is characterized by the formation of numerous, but very small, melanosomes. Melanocytic tyrosinase activity was normal in light microscopy. However, on electron microscopy, tyrosinase activity was strong in premelanosomes of stage I only, and decreased rapidly in the later stages. One of the affected members also presented a Prader-Willi syndrome and a chromosomal anomaly, both being probably unrelated to the pigmentary disorder.

Adult↗