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At least 19 recordsLinked to original sources
PubMed1978

Tinea faciei.

A 62-year-old man had a long-standing fungal infection of the face. The eruption had been treated as a photosensitivity disorder for 22 years. A literature review revealed only 35 reported cases classified as tinea faciei, most of which also were misdiagnosed originally. Pertinent clinical findings include facila erythema, pruritus, and scaling patches with arcuate or annular borders. The most common organisms isolated with Trichophyton rubrum or T mentagrophytes. To our knowledge, this unique case represents the longest duration of Tinea faciei.

Chronic Disease↗
PubMed1978

Normal pressure hydrocephalus. Recognition and relationship to neurological abnormalities in Cockayne's syndrome.

Normal pressure hydrocephalus (NPH) in adults is a well-known cause of dementia. We describe NPH in children having the recessively inherited Cockayne's syndrome (CS). Cockayne's syndrome is characterized by cachectic dwarfism, neurological dysfunction, and cutaneous sunlight sensitivity. We noted that the NPH-associated triad of dementia, gait disturbance, and incontinence developed in CS patients. Computerized tomography of the brain in our four CS patients showed hydrocephalic enlargement of the brain ventricles greatest in the older patients. There was no evidence of cortical atrophy except in the one patient who had CS with xeroderma pigmentosum. Lumbar puncture and radionuclide cisternography in the two patients tested showed normal CSF pressure, with complete blockade to flow of radionuclide above the tentorium cerebelli, ventricular reflux, and delayed absorption. Studies of NPH in CS may elucidate the pathophysiology of NPH and methods to alter its sequelae.

Abnormalities, Multiple↗
PubMed1979

[Pseudoporphyria cutanea tarda in hemodialysis patients].

A bullous disease very similar to late onset cutaneous porphyria has been found in approximately 16 percent of the patients on intermittend hemodialysis. The bullae occur during the summer and are situated on exposed areas, particularly hands, head and neck. There is skin fragility and the bullae are transient, giving place to erosions and later to atrophic scarring. Even milia have been observed. Histology reveals a subepidermal bulla, the basis of which consists of spiky papillary dermis. Immunofluorescence shows immunoglobulin depoits in the vessels and basal membrans. All porphyrin measurements are negative. This disorder may be due to the precence of a non porphyrinogenic photosensitizing substance.

Chronic Disease↗
PubMed1976

Increased sister chromatid exchange in bone marrow and blood cells from Bloom's syndrome.

Bone-marrow cells from a patient with Bloom's syndrome cultured for 48 h in the presence of BudR exhibited a striking increase in the number of sister chromatid exchanges (SCEs) in comparison to that in the marrow cells of a patient with treated polycythemia vera (PV). Thus, it appears that an increased incidence of SCE in Bloom's syndrome occurs in various differentiated types of cells, not just blood lymphocytes, and constitutes the syndrome's most characteristic cytogenetic feature. In contrast, the incidence of SCE was not increased in marrow cells and lymphocytes of the particular PV patient studied here, whose cells did exhibit increased numbers of chromatid and chromosome gaps and breaks, presumably as result of the patient's earlier treatment. An increased frequency of SCE was demonstrated in Bloom's syndrome lymphocytes using both a technique based on BudR incorporation and one based on labeling with tritated deoxycytidine. This observation constitutes evidence against the increase of SCE being due to an unusual reaction to BudR. By conventional cytogenetic techniques, chromosome instability, including chromatid and chromosome breaks, but no homologous chromatid interchanges were also recognized in Bloom's syndrome bone-marrow cells incubated in vitro (without BudR) for either 1.k or 16 h. This observation points to the existence of chromosome instability in vivo.

Adult↗
PubMed1978

Sister chromatid exchanges in Bloom's syndrome.

The importance of chromosome instability in Bloom's syndrome is reviewed, and the recently developed technique for demonstrating sister chromatid exchanges (SCE) is described. In Bloom's syndrome, but not in other heritable syndromes associated with chromosome instability, there is a nine- to ten-fold increase in the frequency of spontaneous SCE. We present a case of Bloom's syndrome in which this test facilitated the diagnosis. In four obligate heterozygotes (the parents of children with Bloom's syndrome), however, an increase in the frequency of spontaneous SCE was not observed.

Abnormalities, Multiple↗
PubMed1977

Bloom's syndrome in two Dutch families.

The clinical and cytogenetic data are presented of four children with Bloom's syndrome, who belong to two unrelated Dutch families. The patients showed, in varying degrees, the clinical features most characteristic of the syndrome: stunted growth; telangiectatic facial erythema; sun-sensitivity of the skin; and decreased immuno-competence. In one child the skin lesions were only minor and the diagnosis would probably not have been made if her sib had not been recognized as having Bloom's syndrome. The cytogenetic characteristics of the syndrome were present in all patients. Each showed a high number of chromosomal aberrations and numerous sister-chromatid exchanges per cell.

Abnormalities, Multiple↗
PubMed1977

Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia.

Early childhood deafness, congenital non-bullous ichthyosiform erythroderma, corneal involvement, photophobia, chronic blepharoconjunctivitis, hypotrichosis, anhidrosis, hyperkeratosis of the nails and dental dysplasia were the symptoms observed in the 19-year-old girl described in this paper. The literature comprises reports on 8 patients with this syndrome, which McKusick (1975) listed as no. 24215.

Adolescent↗
PubMed1992

Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.

Trichothiodystrophy (TTD) is an autosomal recessive disorder characterized by brittle hair with reduced sulphur content, and mental and physical retardation. Numerous additional clinical features may be present, producing a very heterogeneous syndrome. Many cases exhibit ichthyosis and photosensitivity. Cells from photosensitive TTD patients show reduced DNA repair levels similar to those found in xeroderma pigmentosum. TTD patients have a short life expectancy, and no treatment is known or envisaged. We report the prenatal diagnosis of TTD in two French families, based on DNA repair measurements in trophoblasts or amniotic cells, with later confirmation by microscopic analysis of the fetal hairs. Although the DNA repair defect was less marked in the fetal cells when compared with fibroblasts from the index case, measurement of DNA repair by unscheduled DNA synthesis provided unambiguous evidence of defective DNA repair in the fetal cells. This method is therefore a suitable prenatal diagnostic test for those TTD families in which a DNA repair defect has been identified.

Adult↗
PubMed1975

Cutaneous immunopathology: recent observations.

Immunofluorescent studies are currently being done on patients with pemphigus, pemphigoid, dermatitis, lupus erythematosus and its variants, the cutaneous prophyrias, scarring alopecia, erosive mouth lesions, light-sensitive disorders, and cutaneous vasculitis. In this paper I shall review some of the recent advances in immunopathology and report the results that have been obtained in our laboratory.

Alopecia↗
PubMed1977

[Studies on phototoxic and photoallergic effects of cream, ointment and fatty ointment of fluocortin butylester (author's transl)].

The phototoxic action of ointment and fatty ointment of butyl 6alpha-fluoro-11beta-hydroxy-16alpha-methyl-3,20-dioxo-1,4-pregnadien-21-oate (fluocortin butylester, Vaspit) was examined by means of the epicutaneous test with subsequent UV-irradiation (Kromeyer lamp with Schott filter DG 18) in 20 patients with skin disorders. Photoallergic effects of fluocotrin butylester cream, ointment and fatty ointment were tested in a modified Draize test in which 198 subjects with normal skin participated. The subjects were sensitized in 10 epicutaneous tests conducted at intervals of 24 h and followed by irradiation (1500 W xenon lamp) with 2 MED. Treatment and irradiation were then repeated after a 2-week interval. This proceding permitted additional statements an phototoxicity of the administered preparations. No positive reactions occurred in either of the tests so that phototoxic effects can be excluded and a photoallergic potential is improbable.

Adolescent↗
PubMed1978

A human subject with a new defect in repair of ultraviolet damage.

The subject under study (11961) is a child with extreme sun sensitivity. Fibroblasts derived from the child's skin, like those from patients with the disorder xeroderma pigmentosum were hypersensitive to the lethal effects of 254 nm and 310 nm UV-irradiation. Unlike xeroderma pigmentosum cells, however, fibroblasts from our subject were not hypersensitive to the chemical mutagen N-hydroxyacetylaminofluorene but they were hypersensitive to ethylmethanesulfonate. Furthermore, despite the ultra violet light sensitivity, no defects could be detected either in excision or postreplication repair of damaged DNA after UV-irradiation of 11961 cells. This again contrasts with xeroderma pigmentosum cells, which are defective in one or the other of these repair processes. On the basis of these characteristics and the clinical symptoms, we are not at present able to classify this patient as having any of the known sun-sensitive syndromes.

Cell Survival↗
PubMedDate not supplied

Differential diagnosis of inflammatory processes of the face.

We have discussed some aspects of differential diagnosis of inflammatory processes of the facial skin. The disorders mentioned include: eczematous processes, rosacea-like dermatitis, steroid rosacea, acne, especially the diagnosis and therapy of cystic acne, psoriasis, atopic dermatitis, viral infection (Heck's disease) and circumscribed scleroderma versus systemic sclerosis and hemiatrophy of the face. Our own findings reveal that the cytocinetics in the psoriatic lesion differ fundamentally from other epidermal inflammatory processes, especially as the DNS synthesis time is prolonged. And so we consider psoriasis to be an inborn fault in the metabolism of epidermal and other cells, which is only provoked by secondary influences (drugs, allergic reactions, local traumas). To our surprise cytocinetics in atopic dermatitis do not significantly differ in the dermal infiltrate from subacute allergic contact dermatitis. Pigmentation of the face also suggests the possibility of mercury intoxication.

Acne Vulgaris↗