1/4. Hermansky-Pudlak syndrome: case report and clinicopathologic review.The Hermansky-Pudlak syndrome is an autosomal recessive disorder consisting of the triad of albinism, a bleeding diathesis, and ceroid deposition within the reticuloendothelial system. In this study of a patient with Hermansky-Pudlak syndrome, we demonstrate the presence of ceroid within dermal macrophages. Electron microscopic studies suggest that melanosomes may be a substrate for the formation of ceroid in the skin. A review of the clinical and pathophysiologic features of this disorder is presented.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
2/4. Hermansky-Pudlak syndrome in pregnancy: two case studies.Pregnancies in two patients with Hermansky-Pudlak syndrome, oculocutaneous albinism with hemorrhagic diathesis, are presented. Outcomes were good despite prior reports of postpartum hemorrhage in patients with this syndrome. This autosomal recessive disease is relatively common in parts of puerto rico. Suspected patients should be screened with platelet aggregation studies.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
3/4. albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.Four cases of albinism with haemorrhagic diathesis (Hermansky-Pudlak syndrome) are presented. The cases displayed wide phenotypic variation. electroretinography was performed on all four patients and was found to be normal. One patient developed a cutaneous malignant melanoma.- - - - - - - - - - ranking = 411.32058048722keywords = haemorrhagic diathesis, diathesis (Clic here for more details about this article) |
4/4. Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis).We report the association of oculocutaneous albinism and defective platelet function, the Hermansky-Pudlak syndrome, in two young Puerto Rican patients, a 17-year-old boy and a 9-year-old girl. Wide variation in pigmentation may obscure the diagnosis of albinism. Puerto Rican albinos are at increased risk of inheriting this autosomal recessive syndrome. Although usually mild, bleeding in affected patients can be life-threatening, especially after aspirin administration. Albino patients should be questioned about a history of bleeding and referred for hematologic consultation.- - - - - - - - - - ranking = 4keywords = diathesis (Clic here for more details about this article) |