Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Pigmentation Disorders”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 829 records · Page 46Linked to original sources
PubMed1990

Evaluation of patients with obvious or suspected degenerative and dystrophic disorders of the retina, pigment epithelium and choroid. Experience from a Swedish referral center.

Between August 1, 1982, and December 31, 1988, 487 patients with clinically established or suspected diagnosis of a hereditary degenerative or dystrophic disorder of the ocular fundus or of a disorder of the optic pathways were evaluated with an extensive set of clinical and electrophysiological tests, 67% of the patients were referred from other eye departments. In order of magnitude the most frequently encountered diagnoses were: 1) 'functional' disturbances (18%), 2) disorders of the optic nerve (9%), 3) retinitis pigmentosa (8%), 4), 5) and 6) progressive cone dystrophy, disorders of the central optic pathways, and fundus flavimaculatus/Stargardt's disease (5% each), and 7) choriocapillaris atrophy (4%). Choriocapillaris atrophy affected older patients than retinitis pigmentosa (P less than 0.001). A male preponderance was observed for juvenile retinoschisis (P less than 0.005) and congenital stationary night blindness (P less than 0.05), and a female dominance in the groups of patients with 'functional' symptoms (P less than 0.01). A specific diagnosis was established in 469 patients. After exclusion of 16 patients referred because of a known hereditary disposition, 196 (43%) of the remaining 453 patients were referred under the same diagnosis as our final diagnosis, 153 (34%) under a different diagnosis and 104 (23%) without any clear diagnosis. Obviously, there is a need for regional centers specialized in these disorders.

Adolescent↗
PubMedDate not supplied

Ophthalmological findings in 34 patients with Waardenburg syndrome.

In the Netherlands five families with 34 previously unreported patients with Waardenburg syndrome were traced. Twenty-three patients with the syndrome including dystopia canthorum (Type I) were ophthalmologically examined and three patients with the syndrome without dystopia canthorum (Type II) were also examined. Ten of the 15 patients with pigmentary disorders of the iris also showed a shortage of pigment in the retina. Convergent strabismus occurred in an higher percentage of the examined patients (19%) than in the normal population (4-5%).

Abnormalities, Multiple↗
PubMed1995

Chrysiasis revisited: a clinical and pathological study.

Chrysiasis is a distinctive and permanent pigmentation of light-exposed skin resulting from the administration of parenteral gold salts. We report a study of 40 Caucasian patients with rheumatoid arthritis, treated with intramuscular sodium aurothiomalate, of whom 31 had chrysiasis. Visible changes develop above a threshold, equivalent to 20 mg/kg gold content, and their severity depends upon cumulative dose. Focal aggregates of particulate gold are deposited in the reticular and papillary dermis in amounts that correlate with the degree of pigmentation. Characteristically, initially the periorbital region is affected by a mauve discoloration, which intensifies and deepens into a blue/slate-grey colour, while extending to involve the face, neck and upper limbs. Although chrysiasis develops insidiously and patients may be unaware of the changes, positive identification is important in order to avoid misdiagnosis and medical mismanagement, and afford appropriate reassurance. Prevention is difficult, but measures to reduce sunlight exposure may be helpful.

Antirheumatic Agents↗