Ten types of hps associated with mutations in 10 different genes have been recognized. The main feature of hps, oculocutaneous albinism, causes abnormal light coloring pigmentation of the skin, hair, and eyes. Hermanskypudlak syndrome hps is a rare inherited disease, named after two doctors in czechoslovakia who, in 1959, recognized similar health conditions in two unrelated adults. Hermanskypudlak syndrome is an autosomal recessive disorder characterized by oculocutaneous albinism and bleeding, found predominantly in inhabitants of puerto rico and southern holland. Robert anthony saul, md is a member of the following medical societies. Hermanskypudlak syndrome hps is characterized by tyrosinasepositive oculocutaneous albinism, bleeding diathesis, and significant reduction in visual acuity often characterized by nystagmus, reduced retinal and iris pigmentation, and foveal hypoplasia hermansky and pudlak 1959.
Ocular albinism 1 oculocutaneous albinism hermanskypudlak syndrome waardenburg syndrome. Hermanskypudlak symptoms occur due to defects in the melanosomes and the disease affects the lysosomal organelles in the cells, especially the plateletdense granules. Electron microscopic evidence demonstrating lack of plateletdense bodies provides thesine qua nonfor diagnosing hps. Thirteen of the 23 children were of turkish origin, 12 being members of four kindreds. A person can have a copy of the mutated gene without having symptoms of the condition. Hermansky pudlak syndrome nord national organization. Hermanskypudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. Hermanskypudlak syndrome an overview sciencedirect topics.
Hermanskypudlak syndrome hps is a rare autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding diathesis, and other organ involvement specific to certain types. Hermanskypudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring pigmentation of the skin, hair, and eyes. Hair and skin color are typically shades lighter than is seen in unaffected relatives. Hermanskypudlak syndrome hps is a genetic condition that causes oculocutaneous albinism, bleeding problems, and lung abnormalities. Hermanskypudlak syndrome symptoms, diagnosis, treatments. Este sindrome afecta varios organos del cuerpo, como. For this reason these patients have a haemorrhagic tendency. Since the discovery of hps, the condition has occurred all over the world but is most common in puerto rico. Individuals with hps tend to have a high risk of skin damage and skin cancer after. Download fulltext pdf download fulltext pdf download fulltext pdf hermanskypudlak syndrome. Hermanskypudlak syndrome patients, families, and caregivers are encouraged to join the nih rare lung diseases consortium contact registry. Hermanskypudlak syndrome hps, online mendelian inheritance in man omim no.
Familial pulmonary fibrosis in 2 mexican sisters with. Hermanskypudlak syndrome hps is a heterogeneous group of autosomal recessive disorders characterized by tyrosinasepositive oculocutaneous albinism typos oca, bleeding tendencies, and systemic complications associated to lysosomal dysfunction. Hermanskypudlak syndrome is inherited in an autosomal recessive manner. Pierson dm, ionescu d, qing g, yonan am, parkinson k, colby tc, et al. A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect and accumulation of a waxy substance in cells lysosomal ceroid storage.
It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Hypopigmentation in hermanskypudlak syndrome wei 20. A case report article pdf available february 2014 with 254 reads. Individuals with hps tend to have a high risk of skin damage and skin cancer after prolonged sun exposure. Hermansky pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes oculocutaneous albinism. Information was gathered from patient notes and by direct interview. Forum di sindrome di hermanskypudlak domande su sindrome di hermanskypudlak fai una domanda e ricevi risposte da altri utenti. The classic symptoms of hermanskypudlak syndrome include the lack of color pigmentation in the skin, hair, and eyes oculocutaneous albinism, and dysfunction of blood platelets leading to prolonged bleeding storage pooldeficient platelets. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow. Affected individuals typically have fair skin and white or lightcolored hair. Interstitial, diffuse, and inhalational lung disease. Hermanskypudlak syndrome genetics home reference nih.
More detailed information about the symptoms, causes, and treatments of hermanskypudlak syndrome is available below. These mutations each cause altered biogenesis of lysosomes and lysosomerelated organelles and. Longterm sun exposure greatly increases the risk of skin damage and skin cancers some individuals have colitis, kidney failure, and pulmonary fibrosis. Electron microscopy of platelets demonstrates the virtual absence of dense bodies, which are required for normal platelet aggregation. Developed by renowned radiologists in each specialty, statdx provides comprehensive decision support you can rely on hermanskypudlak syndrome. Hermanskypudlak syndrome hps is an autosomal recessive disorder characterized by pigment dilution, nystagmus, decreased visual acuity, a bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Hermanskypudlak syndrome is a multisystem, genetic condition.
The highest prevalence region of hps is in puerto rico with founder effects. This is a privacy protected site that provides uptodate information for individuals interested in the latest scientific. Hermanskypudlak syndrome is a recessive autosomal genetic disease characterised by oculocutaneous albinism, associated with a tendency to haemorrhage due to the absence of platelet granules and. Hermanskypudlak syndrome hps is a rare disorder characterised by oculocutaneous albinism, a bleeding tendency, and lipofuscinosis. Hermanskypudlak syndrome hps is a multisystem disorder characterized by. The diagnosis of hermanskypudlak syndrome may be suspected on clinical grounds when a child presents with unexpectedly lightcoloured hair, skin and eyes associated with a tendency to bleeding. People with this disorder have a higher than average risk of skin damage and skin cancers caused by longterm sun exposure. Review and update of mutations causing waardenburg syndrome. The first symptoms of hps often include easy bruising, bleeding gums, nose bleeds, and excessive bleeding after surgery or accidents. Hermanskypudlak syndrome genetic and rare diseases. Disease support groups 0 general support groups 19 support services. This document is written with the minimum use of medical terms and jargon.
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