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A girl with Hermansky‐Pudlak syndrome
Acta Ophthalmologica, 1991Abstract. A young girl with ocular albinism and the Hermansky‐Pudlak syndrome is described. Ocular albinism generally occurs in males. In this condition, the pigmentation of the skin and hair is nearly normal, and the melanin pigment abnormality is limited to the eyeballs. The chief complaints are visual disturbance, nystagmus, and photophobia.
T, Suzuki +5 more
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The Journal of the Association of Physicians of India, 2010
We present a rare disease condition Hermansky-Pudlak syndrome in a 33-year-old male. He was born of a consanguineous marriage, had occulo-cutaneous albinism, nystagmus, decreased visual acuity, refractory errors, pulmonary fibrosis and granulomatous inflammation of the colon.
Tiyas, Sen +5 more
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We present a rare disease condition Hermansky-Pudlak syndrome in a 33-year-old male. He was born of a consanguineous marriage, had occulo-cutaneous albinism, nystagmus, decreased visual acuity, refractory errors, pulmonary fibrosis and granulomatous inflammation of the colon.
Tiyas, Sen +5 more
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Hermansky-Pudlak Syndrome: Spectrum in Oman
Journal of Pediatric Hematology/Oncology, 2022Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, characterized by oculocutaneous albinism, a hemorrhagic diathesis secondary to storage pool-deficient platelets, and in some patients’ pulmonary fibrosis, granulomatous colitis, and immunodeficiency. To date, 11 different types of Hermansky-Pudlak syndrome were identified. HPS type
Hanan F. Nazir +4 more
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Scandinavian Journal of Haematology, 1977
A Dutch kindred with the Hermansky‐Pudlak syndrome (HPS) is described. We show for the first time evidence of a lowered platelet 5‐hydroxytryptamine content in obligate heterozygotes. Platelet ATP and ADP levels and ATP/ADP ratio were normal in these patients. Platelet aggregation with ADP, collagen and adrenaline was within the normal range.
S. M. Gerritsen +5 more
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A Dutch kindred with the Hermansky‐Pudlak syndrome (HPS) is described. We show for the first time evidence of a lowered platelet 5‐hydroxytryptamine content in obligate heterozygotes. Platelet ATP and ADP levels and ATP/ADP ratio were normal in these patients. Platelet aggregation with ADP, collagen and adrenaline was within the normal range.
S. M. Gerritsen +5 more
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European journal of dermatology : EJD, 2001
A 55-year-old man had oculocutaneous albinism and a history of frequent bruising following minimal trauma. The simultaneous occurrence of these features was first described by Hermansky and Pudlak in 1959. The Hermansky-Pudlak syndrome follows an autosomal recessive trait and is most frequently found in Puerto Rico and in the Swiss alps. It consists of
A, Krisp +4 more
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A 55-year-old man had oculocutaneous albinism and a history of frequent bruising following minimal trauma. The simultaneous occurrence of these features was first described by Hermansky and Pudlak in 1959. The Hermansky-Pudlak syndrome follows an autosomal recessive trait and is most frequently found in Puerto Rico and in the Swiss alps. It consists of
A, Krisp +4 more
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Hermansky-Pudlak syndrome (HPS5) in a nonagenarian
Journal of American Association for Pediatric Ophthalmology and Strabismus, 2013Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding diatheses, and lysosomal accumulation of ceroid lipofuscin, which in some cases may cause granulomatous colitis and pulmonary fibrosis.
Alexander L, Ringeisen +4 more
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Hermansky-Pudlak Syndrome in a Swiss Population
Dermatology, 2009Tyrosinase-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 ...
K U, Schallreuter +4 more
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Hermansky-Pudlak Syndrome with Granulomatous Colitis
Annals of Internal Medicine, 1980The Hermansky-Pudlak syndrome consists of tyrosine-positive albinism, a defect in the second phase of platelet aggregation, and widespread accumulation of a ceroidlike pigment in tissue. Pulmonary fibrosis has also been reported. In this paper, we describe two families with documented Hermansky-Pudlak syndrome in which four members, two from each ...
R A, Schinella +4 more
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The Hermansky-Pudlak syndrome.
Bulletin de la Societe belge d'ophtalmologie, 1998The Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism with a haemorrhagic diathesis and the accumulation of ceroid-like material in different tissues. HPS is not an uncommon type of albinism as it was diagnosed in 13.5% (8/59) of our autosomal recessive albinos.
A, Brandt +4 more
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