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At least 1,279 records · Page 71Linked to original sources
PubMed1974

The REEDS syndrome.

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Abnormalities, Multiple↗
PubMed1974

[Ota's nevus].

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Adolescent↗
PubMedDate not supplied

[Pathomorphosis of the stratum synoviale].

The stratum synoviale is a sort of central point in the synovial system. That is the reason why we also find corresponding modifications in the stratum synoviale in most of the joint diseases. They will be discussed in the appropriate shortness, summarized in tables and their histological appearance form will also be partly represented.

Arthritis, Infectious↗
PubMed1984

[Current status of ashy dermatosis. Synonym--erythema dyschromicum perstans].

A clinical, histopathological, therapeutical and epidemiologic review of Ashy Dermatosis is done. This research has been taken from scientific publications, computers and personal communications. In twenty five years of scientific medical investigations it has not been determined its truth etiology , nor its therapeutic; this confirms it, as a new nosologic entity well defined. The epidemiologic researches are concludent that this is not a tropical disease exclusively, but one of all over the world. We hope to obtain more references on this dermatosis throughout the Sessions of Specialties of CILAD regarding this disease.

Diagnosis, Differential↗
PubMed1994

[Marrow hypoplasia associated with congenital dyskeratosis. Case report].

Congenital dyskeratosis is a rare disease involving ectodermal derived tissues and presenting bone-marrow hypoplasia as a complication in one half of the cases. A 25 year-old male is presented who at age 12 showed retarded development with shortness of the 4th finger of his left hand, anomalous implantation of teeth, hyperpigmented skin and hyperkeratosis on his knees, hands and feet. He had anaemia (Hb 92 g/L) and leucopenia (2.7 x 10(9)/L) with neutropenia (0.34 x 10(9)/L) and his bone-marrow showed hypoplasia, especially affecting granulopoiesis. The cytogenetic studies were normal. No treatment was given, and a haematological re-evaluation performed 13 years later showed no significant quantitative changes. Decreased number of myeloid and megakaryocytic colonies were present in the bone-marrow cultures. The clinical and laboratory characteristics of the bone-marrow aplasia associated to congenital dyskeratosis are commented, stress being laid on its differentiation from other constitutional forms of aplasia, especially Fanconi's anaemia.

Adult↗
PubMed1988

Pigmentary disorders in blacks.

An awareness of pigmentary nuances and an understanding of the psychosocial impact of pigmentary disturbances in blacks is essential in rendering optimal dermatologic care to black patients.

Black People↗
PubMed1994

Prenatal diagnosis of trisomy 12 mosaicism: physical and developmental follow-up.

Follow-up evaluations were performed on a child at the ages of 2 years 8 months and also at 5 years who had been found on prenatal amniocentesis to be mosaic for trisomy 12. Eight of 36 colonies (22 per cent) were trisomy 12 at amniocentesis, with the remaining colonies showing a normal female karyotype. Cord blood, amnion, chorion, placental, and skin fibroblast chromosome studies failed to show any further evidence of a trisomy 12 cell line. At her evaluations, the child had normal physical and neurological findings. Psychomotor development was appropriate for age on screening.

Adult↗
PubMed1988

A new chromosomal instability disorder confirmed by complementation studies.

Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X-rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non-allelic with that of patients with ataxia telangiectasia (complementation groups AB-E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (1986).

Ataxia Telangiectasia↗
PubMed1989

Vitiligo and idiopathic guttate hypomelanosis. Repigmentation of skin following engraftment onto nude mice.

Several diseases are included in the category of hypomelanosis. Their clinical course as well as the pathogenesis are diverse and in many cases poorly understood. The aim of the present study is to use the nude mice model to determine whether the primary defect in various pigmentary skin disorders is inherent to the tissue itself or is secondary to systemic factors. Split-thickness skin grafts obtained from patients with vitiligo, acquired hypomelanosis guttata, and tyrosinase-negative albinism were grafted onto nude mice. Histologic examination and dopa staining were performed prior to and following the engraftment. The dopa staining was performed on the epidermal sheet following separation from the dermis. The depigmented area of the vitiligo became completely pigmented 6 to 10 weeks after skin transplantation. The dopa reaction that was negative prior to skin engraftment became completely positive after the transplantation. The number of melanocytes (expressed per square millimeter of skin surface) 8 weeks after transplantation was 197 +/- 73 mm2. Dopa reaction in acquired hypomelanosis guttata showed reduction of the number of melanocytes in the depigmented macula as compared with the surrounding area (55.25 +/- 18.00 mm2 vs 220 +/- 28.28 mm2. Twenty days after skin transplantation, repigmentation of the area was observed. The number of melanocytes increased significantly (388.75 +/- 213 mm2). The grafted skin obtained from patients with tyrosinase-negative albinism showed persistence of the depigmentation after skin transplantation. Dopa reaction was negative prior to and 8 weeks after transplantation. The results of the present study suggest that systemic factors may play a role in the pathogenesis of vitiligo and acquired hypomelanosis guttata.

Adult↗