Painful plantar callouses and mental retardation. Tyrosinemia type II.
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Biomedical subjects
Publications and source records attributed to F Jimenez-Acosta.
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The human hematopoietic progenitor cell antigen (CD34) is a cell surface protein expressed by human hematopoietic progenitor cells, vascular endothelium, and many mesenchymal tumors. Sections from six samples of normal skin and from 41 epithelial tumors of the skin were studied. Immunostaining of epithelial cells from the external root sheath below the attachment of the arrector pili muscle and above the matrix cells was noted in normal samples. Tumors derived from or differentiated toward cells of the outer sheath, especially trichilemmomas, were immunostained with QBEND/10 (anti-CD34 antibody), whereas other epithelial tumors studied were negative. CD34 could serve as a marker of outer sheath cell derivation and may well be of value in the distinction between trichilemmomas and other lesions with similar histopathological features.
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Porphyria cutanea tarda (PCT), a relatively uncommon disease, has recently been reported in patients infected with the human immunodeficiency virus (HIV). Although PCT and HIV infection may co-exist by chance, the increasing number of reported cases suggest that HIV or an associated factor triggers the development of PCT in predisposed individuals. We report four additional cases of PCT in HIV seropositive patients and review the previously reported cases. The possible links between PCT and HIV are discussed. We believe the diagnosis of PCT should prompt investigation for HIV infection in all patients.
The pruritic papular eruption of the acquired immunodeficiency syndrome is characterized by generalized, pruritic, skin-colored papules and nodules. Chronic lesions are excoriated and hyperpigmented. The eruption and pruritus typically wax and wane and are resistant to oral antihistamine and topical steroid therapy. The characteristic histologic features are (1) superficial and mid dermal perivascular and perifollicular mononuclear cell infiltrate with numerous eosinophils and (2) follicular damage of varying degrees. When compared with control subjects, these patients did not demonstrate any significant difference in laboratory or demographic data.
We have used a monoclonal antibody against human pancreatic lipase to study the immunohistochemical expression of lipase in formalin-fixed, paraffin-embedded biopsy specimens from normal and a variety of tumoral and inflammatory skin diseases. In normal skin, lipase is detected in the sebaceous glands and in the external root sheath of the hair follicle. Antibody to lipase might be a valuable reagent to help confirm sebaceous and follicular differentiation in adnexal tumors. Immunoreactivity to lipase is also detected within mononuclear phagocytes in situations where extracellular release of lipids occurs, such as in xanthomas or in inflammation of the fat with significant lysis of adipocytes. The antibody to lipase identifies a major protein in pilosebaceous homogenates of 42.7 kDa following immunoblotting.
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Subcutaneous fat necrosis associated with pancreatitis has been postulated to be due to the effects of circulating pancreatic lipase. We report positive intracellular staining of adipocytes with a monoclonal antibody to pancreatic lipase in a lesion of subcutaneous pancreatic fat necrosis, and confirm the role of pancreatic lipase in the pathogenesis of this syndrome.
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A patient with keratoderma palmoplantaris striata is presented. In the family tree there are 36 relatives affected to a varying degree. The familial incidence is the largest reported in the literature reviewed. The response to etretinate was excellent, controlling the lesions with minimal side-effects.
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