Cases reported "Albinism"

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1/8. 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.
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2/8. Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder.

    The Hermansky-Pudlak syndrome is a form of oculocutaneous albinism, characterized by a qualitative platelet defect and deposition of ceroid-like material throughout the reticuloendothelial system. During a 16 month period five patients with Hermansky-Pudlak syndrome presented with symptoms, chest films and pulmonary function studies consistent with restrictive pulmonary disease. In two patients, lung biopsies revealed diffuse interstitial fibrosis. However, light and electron microscopy demonstrated ceroid-like material within alveolar macrophages. In addition, two patients presented with inflammatory bowel disease with deposition of ceroid-like material in the colon. This disorder appears to be more common than is currently recognized and should be considered in the differential diagnosis of diffuse interstitial pulmonary disease and inflammatory bowel disease. A relationship between the deposition of ceroid-like material and pulmonary fibrosis is discussed in light of recent research concerning inflammatory processes. In view of the serious pulmonary, gastrointestinal and hematologic consequences of this syndrome, there is a need for genetic counseling of these patients.
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3/8. Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction. A case report and review of the literature.

    In addition to the triad in the Hermansky-Pudlak syndrome (tyrosine-positive oculocutaneous albinism, mild bleeding tendency with a normal platelet-count and widespread accumulation of ceroid-like pigment in various organs), we document severe pulmonary fibrosis, pseudomelanosis coli and deeply pigmented renal cortex. In the liver, innumerable number of pigment-laden kupffer cells and macrophages in the Glisson capsule were seen. Interestingly, many intralysosomal accumulations of the pigment within the hepatocytes were found by electron microscopy, suggesting that these configurations possibly resulted from a dysfunction of the lysosome itself, especially with regard to loss of digestive and secretory activity. The triad and other complications may also be resultants of a lysosomal dysfunction.
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4/8. Hermansky-pudlak syndrome and interstitial lung disease: report of a case with lavage findings.

    Clinical and pathologic evidence for interstitial pulmonary fibrosis occurring in some patients with the Hermansky-Pudlak syndrome is well described in the literature, but data on immunologic mechanisms operating in this form of lung disease have not been published. In this case report, we describe bronchoalveolar lavage (BAL) findings in a patient with this syndrome. Recovered alveolar macrophages (AM) contained the characteristic ceroidlike material previously described in interstitial macrophages in pathologic specimens. The BAL analysis was similar to that seen in idiopathic pulmonary fibrosis, with increased levels of immunoglobulins and numbers of IgG and IgA secreting cells, and normal percentages of putative helper and suppressor T-cell subsets. In addition, superoxide production by stimulated AM was increased, possibly secondary to phagocytosis of the ceroidlike material. The lavage in this patient was compatible with a mild inflammatory process that was consistent with gallium scan results and the patient's clinical course.
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keywords = macrophage
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5/8. A new familial defect in neutrophil bactericidal activity.

    A 4-year-old boy with recurrent infections and his clinically healthy father showed a severe, isolated defect in bactericidal activity of peripheral neutrophil leukocytes (the mother and the only sister were normal). lymph nodes, spleen and liver of the child presented a massive infiltration by macrophages. Such infiltration and the segmentary albinism of the hair resemble traits of the chediak-higashi syndrome, but some of the most relevant traits of this syndrome are absent, since all other neutrophil functions were normal in our patient.
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6/8. The Hermansky-Pudlak syndrome. Evidence for a lowered 5-hydroxytryptamine content in platelets of heterozygotes.

    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. In contrast to the homozygous HPS patients the heterozygotes are normally pigmented and none has diaphanous irides, nystagmus or a bleeding tendency. All homozygous HPS patients have the typical triad of oculocutaneous albinism, pigmented macrophages in the bone marrow and a bleeding disorder, based on a platelet dysfunction. The platelets showed the typical characteristics of a storage pool deficiency. Their platelet factor 3 availability was decreased and the aggregation patterns showed an absent second wave with ADP, adrenaline and absent collagen aggregation. Platelet ADP levels were strongly decreased in all homozygous HPS patients, whereas ATP was lowered only in 3 out of 6 HPS patients. The 5-hydroxytryptamine content of their platelets was very low (15-20% of normal).
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keywords = macrophage, bone
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7/8. Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome.

    A family was studied in which four siblings had oculocutaneous albinism. In three of these a platelet function defect characterized by poor response to collagen was found. The fourth had previously died from cryptogenic fibrosing alveolitis. Two of the survivors had cryptogenic fibrosing alveolitis and the third had physiological lung function disturbance. bone marrow examination of one showed pigment laden macrophages (Hermansky-Pudlak Syndrome). Three other normally pigmented family members were found to have normal platelets and no evidence of cryptogenic fibrosing alveolitis, although one had pulmonary disease attributable to occupational dust exposure. To elucidate the aetiological factors involved, three unrelated normally pigmented patients with known platelet function defect were studied. One proved to have cryptogenic fibrosing alveolitis. Four unrelated albinos were also studied and had normal lungs and platelets. It is suggested that, in addition to the known association between platelet function defect and albinism, there is an association between a platelet function defect and cryptogenic fibrosing alveolitis.
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keywords = macrophage
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8/8. Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature.

    Partial albinism with immunodeficiency (Griscelli syndrome) is an uncommon disorder characterized by pigmentary dilution and variable immunodeficiency. Features include a silvery-gray sheen to the hair, large clumped melanosomes in hair shafts, and prominent mature melanosomes in cutaneous melanocytes with sparse pigmentation of adjacent keratinocytes. Immunologic abnormalities most often include impaired natural killer cell activity, absent delayed-type hypersensitivity, and impaired responses to mitogens. Impaired helper T cell function and hypogammaglobulinemia have also been described. The syndrome can be differentiated from chediak-higashi syndrome by pathognomonic light and electron microscopic features in skin and hair, and absence of consistent granulocyte abnormalities, but similarly carries a poor prognosis without bone marrow transplantation. We describe a patient with Griscelli syndrome who presented with hepatosplenomegaly, hepatitis, pancytopenia, and silvery hair in the newborn period.
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ranking = 0.00018201946692043
keywords = bone
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