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| HERMANSKY-PUDLAK SYNDROME IN A SWISS POPULATION |
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| Author(s): SCHALLREUTER KU, FRENK E, WOLFE LS, WITKOP CJ, WOOD JM |
| Source: DERMATOLOGY Volume: 187 Issue: 4 Pages: 248-256 Published: 1993 |
| Times Cited: 36 References: 53 |
| Abstract: Tyrosinase-positive albinism, previously diagnosed as Hermansky-Pudlak Syndrome (HPS), has been examined in four generations from a village of the canton Valais, Switzerland. Homozygotes, obligate heterozygotes and putative heterozygotes in this geneology yielded lower than normal membrane-associated thioredoxin reductase (TR) activities compared with normal family members and controls. All of the homozygotes and 50% of each the obligate and putative heterozygotes showed an increase in bleeding time associated with storage-pool-deficient platelets lacking dense bodies. The TR activity profile and the platelet-dense body deficiency in the Swiss albinos was the same as that in the HPS population from Puerto Rico. However, in albinos from Puerto Rico, there is an accumulation of ceroid/lipofuscin-like pigment in lysosomal structures causing tissue damage, and, upon kidney involvement, this leads to increased urinary dolichol excretion. Approximately half of the Puerto Rican HPS cases had clinical evidence of storage disease with restrictive lung disease, granulomatous colitis, kidney failure and cardiomyopathy. By comparison, the Swiss HPS geneology had a normal life expectancy with no significant evidence for ceroid accumulation or urinary dolichol excretion. An examination of antioxidant enzymes, catalase, TR and glutathione reductase in epidermal suction blisters from Swiss HPS homozygotes showed a similar result for catalase and TR levels to the depigmented epidermis of patients with vitiligo, except that intracellular TR was found to be calcium free in HPS compared with vitiligo. Intracellular glutathione reductase levels were highest in HPS. Both the Swiss and Puerto Rican HPS homozygotes and heterozygotes have giant melanosomes in skin melanocytes. |
| Document Type: Article |
| Language: English |
| Reprint Address: SCHALLREUTER, KU (reprint author), UNIV HAMBURG, DEPT DERMATOL, MARTINISTR 52, W-2000 HAMBURG 20, GERMANY |
Addresses:
1. CHU VAUDOIS, DEPT DERMATOL, CH-1011 LAUSANNE, SWITZERLAND
2. MCGILL UNIV, MONTREAL NEUROL INST, MONTREAL H3A 2T5, QUEBEC CANADA
3. UNIV MINNESOTA, SCH DENT, DEPT ORAL PATHOL & GENET, MINNEAPOLIS, MN 55455 USA |
| Publisher: KARGER, ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND |
| Subject Category: Dermatology |
| IDS Number: MJ518 |
| ISSN: 1018-8665 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |