1/38. Lipoid proteinosis.A 21-year-old man presented with a complaint of hoarseness as well as lesions along the eyelids and on his knees, elbows, and fingers. hoarseness had developed in childhood, followed by lesions along the eyelids and on the elbows and fingers. He had developed lesions on the knees, feet, scrotum, penis, and axilla over the last 2 years. His parents were relatives, but nobody in the family showed similar features. His physical examination was normal. On dermatologic examination, there were beaded papules along the eyelids and small, yellow-white infiltrations on the tongue, buccal mucosa, palate, scrotum, and penis (Fig. 1). His tongue was firm and its mobility was limited. He also had infiltration of the frenulum (Fig. 2) and warty and hyperkeratotic papular and nodular lesions on the hands, knees, elbows (Fig. 3), and axilla. The laboratory findings and laryngoscopic examination were normal. Ophthalmologic, neurologic, and psychiatric examinations were also normal. Electroencephalogram (EEG), electromyogram (EMG), craniography, and cranial computed tomography (CT) scanning revealed no abnormality. The histopathologic examination of the skin biopsy specimens obtained from the axilla, elbow, and dorsum of the hand showed hyperkeratosis and periodic acid-Schiff-positive (PAS( )) staining hyaline material around the dermal capillaries and sweat glands, and confirmed the diagnosis of lipoid proteinosis.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
2/38. Late onset hyalinosis cutis et mucosae.Two cases of non-familial, late onset (50 and 62-years-old) hyalinosis cutis et mucosae were studied and compared with classical early onset cases. Late onset cases showed essentially the same histological and ultrastructural features described for early onset cases. The late onset variety should be distinguished from other diseases; they resemble systemic amyloidosis and sometimes the adult form of colloid milium.- - - - - - - - - - ranking = 5keywords = mucosa (Clic here for more details about this article) |
3/38. Lipoid proteinosis: report of four siblings and brief review of the literature.Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated with deposition of periodic acid-Schiff (PAS)-positive hyaline material in various tissues including skin, mucous membranes, and internal organs. A family is reported in which four siblings (two boys and two girls) born to nonconsanguineous parents had lipoid proteinosis. All had the characteristic hoarseness of voice and three had skin lesions. The diagnosis was confirmed by the presence of typical features on light and electron microscopy.- - - - - - - - - - ranking = 18.148830272749keywords = mucous membrane, membrane (Clic here for more details about this article) |
4/38. 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 = 18.148830272749keywords = mucous membrane, membrane (Clic here for more details about this article) |
5/38. D-penicillamine treatment for lipoid proteinosis.Lipoid proteinosis, a rare disorder inherited in an autosomal recessive fashion, is characterized by the deposition of hyaline-like material in the skin, mucous membranes, and other tissues. Perturbation of collagen metabolism has been suggested to play an important role in the pathogenesis. No effective therapy is available for the disease. The chelating agent D-penicillamine has long been used to treat several diseases. In addition to its immunosuppressive and anti-inflammatory effects, it also impairs fibroblast proliferation and inhibits the formation of the cross-links in collagen and elastin fibers. A 13-year-old girl was clinically and histologically diagnosed with lipoid proteinosis. We treated her with 600 mg/day of D-penicillamine for 2 years. The patient had improved clinically and histopathologically by the end of this treatment. We suggest D-penicillamine as a promising agent, even in low doses, for the treatment of lipoid proteinosis.- - - - - - - - - - ranking = 18.148830272749keywords = mucous membrane, membrane (Clic here for more details about this article) |
6/38. 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 = 18.148830272749keywords = mucous membrane, membrane (Clic here for more details about this article) |
7/38. Molecular basis of lipoid proteinosis in a Libyan family.Lipoid proteinosis is an autosomal recessive condition associated with variable scarring and infiltration of skin and mucosae. The disorder has recently been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene (ECM1) on 1q21. extracellular matrix protein 1 has important physiological and biological roles in aspects of epidermal differentiation, binding of dermal collagens and proteoglycans, and in regulation of angiogenesis. Thus far pathogenic mutations have been described in 16 different families with lipoid proteinosis throughout the world. In this report, we describe the clinico-pathological features of a 10-year-old boy with lipoid proteinosis from a consanguineous Libyan family. By direct sequencing of the affected individual's genomic dna, we identified a homozygous nonsense mutation in exon 2 of the ECM1 gene, Q32X. This mutation is the most 5' of all ECM1 mutations described thus far and is predicted to ablate the ECM1a, ECM1b and ECM1c splice variants of the ECM1 gene and to result in a severe clinical phenotype. Sequencing of dna from the affected individual's five siblings revealed that four were heterozygous carriers of Q32X, findings that have important implications for genetic counselling given the high frequency of consanguineous marriages in libya.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
8/38. Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis.Two unrelated infants had stiff skin and painful joint contractures in the first few months of life. Other features included gingival hyperplasia, small papules on the face and trunk, perianal nodules, and bloody diarrhea. Hyaline material was evident in the papillary dermis and gut mucosa in both patients. Ultrastructural examination revealed a distinctive fibrillogranular appearance. These infants have the same clinical, histologic, and ultrastructural features as four infants we reported previously with infantile systemic hyalinosis. One of the patients described here demonstrated some features that overlap with those of juvenile hyaline fibromatosis.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
9/38. Lipoid proteinosis in siblings.Two sisters, aged 16 and 11, presented with skin lesions and hoarseness since early childhood. skin lesions consisted of infiltrated warty nodules, and papules over elbows, axillae, and hands. The oral mucosa, tongue, lips, larynx, and vocal cords also showed infiltration. The characteristic beaded papules on eyelid margin and hoarseness pointed to the rare diagnosis of lipoid proteinosis.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
10/38. The role of lipoid proteinosis in gingival hypertrophy.Hyalinosis cutis et mucosae (lipoid proteinosis, Urbach-Wiethe disease) is a rare syndrome with autosomal recessive inheritance. The disease is characterized by diffuse deposition of a hyalinelike substance in the dermis, submucosal connective tissue, and various internal organs. In this study, the patient demonstrated classic signs and symptoms of lipoid proteinosis except for gingival infiltration. Gingival infiltration is still an unexplainable feature of this disease. In the context of this case, the diagnostic significance of the microscopic findings of the gingival tissues and the possible factors playing a role in gingival hypertrophy, are discussed.- - - - - - - - - - ranking = 2keywords = mucosa (Clic here for more details about this article) |
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