1/14. Lipoid proteinosis. A biochemical and ultrastructural investigation of two new cases.Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and visceral lesions, in which large amounts of amorphous material are constantly found in stroma. Morphological and biochemical studies indicate abnormal collagen production, but little attention has been paid to the lipid component of lesions. Microscopic and ultrastructural studies of skin, with special emphasis on fibroblasts, vessels, nerve endings and eccrine sweat glands, were conducted in two patients with lipoid proteinosis. Biochemical studies were undertaken in cultured fibroblasts. Evidence of lysosomal storage in epithelial cells of eccrine sweat glands and in dermal histiocytes, very similar to that found in some metabolic disorders, particularly Farber disease, was found in both cases. Our findings suggest that two alterations might coexist in lipoid proteinosis, one characterized by impaired normal collagen production and the other related to a metabolic defect which may lead to accumulation of ceramide or more complex lipids.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/14. Protean manifestations of lipoid proteinosis in a 16-year-old boy.We report a 16-year-old Japanese male with lipoid proteinosis showing various skin manifestations. The patient was born to nonconsanguineous parents and none of his relatives was similarly affected. The patient suffered from a hoarse voice and refractory temporal epilepsy from early childhood. Computed tomography scanning of the brain showed bilateral calcification in the temporal lobes, a characteristic feature of lipoid proteinosis. On physical examination, various skin manifestations, including papules and haemorrhagic blisters, acne-like scars at sites of minor trauma or friction, and beads of small papules along the free margins of the eyelids were noted. A skin biopsy showed deposits of homogeneous hyaline-like material, positive on periodic acid-Schiff staining, throughout the dermis, particularly around small blood vessels. It is noteworthy that a range of characteristic skin lesions can be present in a patient with lipoid proteinosis even with mild systemic involvement.- - - - - - - - - - ranking = 72.688712518895keywords = blood vessel, vessel (Clic here for more details about this article) |
3/14. Periodontal lesions in lipoid proteinosis.Lipoid proteinosis is a rare autosomal recessive heritable disease. Clinical features are hoarseness starting in infancy and the formation of yellowish papules and plaques on the skin and mucous membranes of the nose, oral cavity, pharynx and larynx. light and electron microscopy demonstrates a subepithelial accumulation of PAS-positive (hyaline) material around blood vessels and in the dermis. This case is unusual in that the gingiva is also involved in the lipoid proteinosis.- - - - - - - - - - ranking = 72.688712518895keywords = blood vessel, vessel (Clic here for more details about this article) |
4/14. Lipoid proteinosis in two siblings: a report from india.Lipoid proteinosis is an autosomally recessive genodermatosis characterized by widespread deposition of eosinophilic hyaline-like material in the skin, mucous membranes, and other internal organs. Occurrence of lipoid proteinosis in siblings is very rare. We report two siblings from the Indian subcontinent with the classical features of lipoid proteinosis. Both the siblings had had hoarseness of voice and spontaneous vesicular eruptions healing with atrophic scars since their early childhood. They had diffuse waxy thickening of the skin along with beaded papules along the eyelid margin. The tongue was also infiltrated. Skin biopsy demonstrated periodic acid Schiff (PAS) positive eosinophilic material around the blood vessels and appendages.- - - - - - - - - - ranking = 72.688712518895keywords = blood vessel, vessel (Clic here for more details about this article) |
5/14. Lipoid proteinosis in two siblings: a report from south india.A 6-year-old girl and her 9-year-old brother, born of nonconsanguineous parents, had hoarseness and multiple, asymptomatic, raised skin lesions present since childhood. On examination, both siblings had hoarseness and numerous skin-colored, waxy papules distributed over the forehead, face, neck, axilla, groin, and extremities. Acneiform (pocklike) scars were present on the face, trunk, and extremities. Eyelid beading (moniliform blepharosis) was present over bilateral upper and lower eyelids. The tongue, lips, and frenulum were thickened and infiltrated, and the patients were unable to protrude the tongue out of the mouth. The scalp had patchy alopecia. Histological examination of representative skin specimens (from both siblings) showed deposition of pink, amorphous material in the papillary dermis, around blood vessels, and around appendages. These deposits stained positive with periodic acid-Schiff stain, were diastase resistant, and were negative for congo red, confirming our clinical diagnosis of lipoid proteinosis. Over 250 cases of this rare disorder have been described in the literature, but occurrence of lipoid proteinosis in siblings is rare.- - - - - - - - - - ranking = 72.688712518895keywords = blood vessel, vessel (Clic here for more details about this article) |
6/14. Lipoid proteinosis: report of a possible localized form on both hands and wrists.A 28-year-old woman was seen for pruritic lesions on both hands and wrists which had been present since the age of 10 years. Both palms showed symmetric, diffuse hyperkeratosis extending over both wrists and the dorsal aspects of both hands with well-demarcated, erythematous, lichenified plaques (Figs 1 and 2). The borders of the plaques were pigmented and studded with papules (Fig. 2). The skin lesions were not related to sun exposure. No similar lesions were found elsewhere on the body. The hair, nails, and dental development were normal. A skin biopsy was taken for histopathologic and ultrastructural studies under the clinical impression of pityriasis rubra pilaris. Microscopically, homogeneous perivascular deposits of hyaline-like material were seen in the papillary and reticular dermis, accompanied by mononuclear cells (Figs 3 and 4). The overlying epidermis was acanthotic with hyperkeratosis (Fig. 3). The hyaline deposits were positive for periodic acid-Schiff (PAS) and oil-red O stains (Figs 5 and 6). congo red stain was negative. Electron microscopic examination showed abundant amorphous material intermingled with short collagen fibrils in the dermis and around the blood vessels (Figs 7 and 8). Further examination revealed that the patient could protrude her tongue freely. The oral mucosa and vocal cords were smooth. There was no sign of systemic amyloidosis. The patient's complete blood cell count, biochemical tests, and protein electrophoresis were all within normal limits. Antinuclear antibody was negative. Results of porphyrin screening tests were negative for uroporphyrins and coproporphyrins in the urine and feces. The possibility of porphyria was therefore excluded. Both neurologic and ophthalmic examinations were negative. No intracranial calcification was found on a skull X-ray examination. The patient was treated with topical steroid and urea. She was lost to follow-up.- - - - - - - - - - ranking = 72.688712518895keywords = blood vessel, vessel (Clic here for more details about this article) |
7/14. Three-dimensional imaging reveals major changes in skin microvasculature in lipoid proteinosis and lichen sclerosus.BACKGROUND: Lipoid proteinosis is a rare autosomal recessive disorder characterized by deposition of hyaline-like material in several organs, including skin. Pathogenic mutations have been found in the extracellular matrix protein 1 gene (ECM1). Recent studies have disclosed that ECM1 is also a target antigen for autoantibodies in patients with the acquired disease, lichen sclerosus. Both conditions have been reported to show abnormalities in dermal blood vessels but these changes have not been fully assessed. OBJECTIVE: The purpose of this study was to investigate the architecture of the cutaneous microvasculature in lipoid proteinosis and lichen sclerosus to better determine the role of ECM1 in the skin pathology observed in these disorders. methods: Labeling of skin biopsies (lipoid proteinosis, lichen sclerosus and control skin) with antibodies to type IV collagen and laminin-1 and reconstruction of the dermal blood vessels using laser confocal microscopy and computer imaging. RESULTS: In both lipoid proteinosis and lichen sclerosus there was reduplication of the basement membranes surrounding blood vessel walls. There were enlarged vessels in the mid and deep dermis that were orientated parallel to the dermal-epidermal junction. In addition, the normal capillary loop network in the dermal papillae, as well as the subcutaneous plexus and transverse connecting vessels were lacking in both disorders. CONCLUSION: This study demonstrates that skin microvasculature is grossly altered when ECM1 is targeted by inherited mutations (lipoid proteinosis) or acquired autoantibodies (lichen sclerosus) and that this glycoprotein appears to have an important role in regulating blood vessel physiology and anatomy in the skin.- - - - - - - - - - ranking = 292.75485007558keywords = blood vessel, vessel (Clic here for more details about this article) |
8/14. Lipoid proteinosis: ultrastructural and biochemical studies.Lipoid proteinosis, a rare autosomal recessive disease, is histologically characterized by deposition of hyalinlike material in the dermis. In this study the pathologic processes of lipoid proteinosis were evaluated by ultrastructural and biochemical analysis of skin and cultured fibroblasts from a patient with classic features of the disease. Transmission electron microscopy revealed the presence of hyalinlike material with a granular appearance interspersed between collagen fibers. Immediately surrounding the blood vessel walls, there was reduplication of basal laminae in an "onionskin" arrangement. The fibroblastic cells in the affected dermis contained peculiar cytoplasmic inclusions. Biochemical studies with the cultured fibroblasts showed that the total synthesis of extracellular matrix components, as detected by the synthesis of radioactive hydroxyproline or the incorporation of 35SO4(2-) and [3H]glucosamine into macromolecules, was not altered in lipoid proteinosis. However, the relative expression of type I and type III procollagen genes, as detected by molecular hybridizations with pro-alpha 1(I) and pro-alpha 1(III) procollagen complementary deoxyribonucleic acid probes, was markedly altered in cultured fibroblasts. Specifically, the type I procollagen messenger ribonucleic acid (mRNA) levels were significantly reduced, resulting in a decreased type I/III procollagen mRNA ratio. Furthermore, the replicative capacity of lipoid proteinosis fibroblasts, as detected by the incorporation of radioactive thymidine, was reduced. Thus the skin fibroblasts from lipoid proteinosis demonstrate ultrastructural changes, as well as alterations in their phenotypic characteristics, and these changes may have relevance to the pathologic processes of this systemic disease affecting the skin and other organs.- - - - - - - - - - ranking = 72.688712518895keywords = blood vessel, vessel (Clic here for more details about this article) |
9/14. Predominantly cerebral manifestation in Urbach-Wiethe's syndrome (lipoid proteinosis cutis et mucosae): a clinical and pathomorphological study.The neurological and psychiatric manifestations in a case of Urbach-Wiethe's disease are reported. The present case is characterized by the predominance of cerebral symptoms: ataxia, psychomotoric seizures, paranoic hallucinatory psychosis and attacks of rage. At autopsy, deposits of amyloid-like material in the walls of the brain vessels could be observed. This finding, together with the mucocutaneous alterations, confirmed the diagnosis of the rare disease know as "lipoid proteinosis cutis et mucosae".- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
10/14. Hyalinosis cutis et mucosae in siblings.Hyalinosis cutis et mucosae is a rare autosomal recessive disorder of unknown aetiology. Clinical features are hoarseness from early infancy and yellowish papules and plaques in mucous membranes and skin. light and electron microscopy demonstrates accumulation of PAS-positive material around blood vessels and in the dermis. This substance probably derives from glycoproteins of basement membranes. carbon dioxide laser surgery of thickened vocal cords proved to be effective for the treatment of hoarseness.- - - - - - - - - - ranking = 72.688712518895keywords = blood vessel, vessel (Clic here for more details about this article) |
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