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At least 127 records · Page 7Linked to original sources
PubMed1999

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.

Adult↗
PubMed2002

[New insights about immunopathology of lipoid nephrosis].

Clinical and experimental observations suggest that Lipoid Nephrosis (Minimal change nephrotic syndrome) results from T cell dysfunction due to still unknown mechanisms. By subtractive screening library, we identified 84 transcripts, of which twelve match with proteins of yet unknown function and thirty are unknown clones. Among the 42 known transcripts, at least 18 are closely involved in the TCR-mediated complex signaling cascade. This includes genes encoding components of the T cell receptor and proteins associated with the cytoskeleton scaffold, as well as transcription factors such as NF-kappa B and c-maf. During the relapse phase, we have found significant alterations of the NF-kappa B/I kappa Ba regulatory pathway, whereas very low levels of IL12R beta 2 mRNA were detected suggesting that T cell activation evolves toward a Th2 phenotype. We have shown that c-maf is highly induced, shuttling between nuclear and cytoplasmic compartment during the relapse and the remission phases, respectively. Contrasting with the nuclear expression of c-maf, low IL4 levels were detected in relapse. This suggests that the downstream target gene of c-maf in Lipoid Nephrosis, is not IL4 and provides new directions in research leading to identify the target gene, possibly an unknown Th2 cytokine, which might play a critical role in the pathophysiology of this disease. Thus, the combination of subtractive cloning and differential screening constitutes an efficient approach to identify genes likely to be involved in the pathophysiology of MCNS.

Adolescent↗
PubMed2003

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.

Basement Membrane↗
PubMedDate not supplied

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.

Adult↗
PubMed2006

Lipoid proteinosis: report of three familial cases.

Lipoid proteinosis is a rare autosomal recessive disorder; it presents in early childhood with hoarseness, skin infiltration and thickening with beaded papules on eyelid margins, and facial acneiform or pock-like scars. Although 250 cases have been reported until now, the occurrence of disease in siblings is very rare. We report three familial cases of lipoid proteinosis involving a brother and sister and their nephew.

Adolescent↗
PubMed1990

The estimation of selection coefficients in Afrikaners: Huntington disease, porphyria variegata, and lipoid proteinosis.

The effects of mutation, migration, random drift, and selection on the change in frequency of the alleles associated with Huntington disease, porphyria variegata, and lipoid proteinosis have been assessed in the Afrikaner population of South Africa. Although admixture cannot be completely discounted, it was possible to exclude migration and new mutation as major sources of changes in the frequency of these alleles by limiting analyses to pedigrees descendant from founding families. Calculations which overestimated the possible effect of random drift demonstrated that drift did not account for the observed changes in gene frequencies. Therefore these changes must have been caused by natural selection, and a coefficient of selection was estimated for each trait. For the rare, dominant, deleterious allele associated with Huntington disease, the coefficient of selection was estimated to be .34, indicating that this allele has a selective disadvantage, contrary to some recent studies. For the presumed dominant and probably deleterious allele associated with porphyria variegata, the coefficient of selection lies between .07 and .02. The coefficient of selection for the rare, clinically recessive allele associated with lipoid proteinosis was estimated to be .07. Calculations based on a model system indicate that the observed decrease in allele frequency cannot be explained solely on the basis of selection against the homozygote. Thus, this may be an example of a pleiotropic gene which has a dominant effect in terms of selection even though its known clinical effect is recessive.

Ethnicity↗
PubMed1971

Lipoid proteinosis.

Twenty-eight cases of lipoid proteinosis have been identified in a highly inbred White-Khoikhoi ("Hottentot") hybrid community living in Namaqualand, South Africa. The clinical manifestations of the disease are described, and a genetic analysis is presented. Genealogic studies have shown that the autosomal mutant gene for lipoid proteinosis was introduced into South Africa by a German settler and his sister in the mid-17th century. A great-grandson of that settler carried the gene to Namaqualand, where several generations of inbreeding have produced numerous affected homozygotes.

Adolescent↗
PubMedDate not supplied

[Must renal biopsy be still performed in "lipoid nephrosis"? (author's transl)].

In 52 out of 272 children with one of the following diseases: nephrotic or nephritic syndrome, persistent humaturia and/or proteinuria, renal biopsy was performed on the basis of commonly accepted indications. 18 biopsies were from patients with a clinical picture of lipoid nephrosis and clinical course of "non responders" or "frequent relapsers" types. All of them showed the histologic pattern of minimal changes and had a value of Y index according to ISKCD greater than 0,85. Moreover all patients with minimal changes nephrotic syndrome had a Y index greater than 0.85. If these observations will be confirmed renal biopsy would not later be indicated in children with "lipoid nephrosis".

Biopsy↗
PubMed1998

[Lipoid proteinosis: importance of dermabrasion. Apropos of a case].

The authors report case of lipoid proteinosis. This is an autosomal recessive genetic disease involving the skin and mucous membranes. Skin lesions have a granular appearance, with infiltration and wrinkling of the skin, especially on the face. The authors show the success of dermabrasion on skin lesions on the face of a 21-year-old girl displaying typical symptoms of lipoid proteinosis.

Adult↗
PubMed1986

Familial lipoid adrenal hyperplasia: genetic marker data and an approach to prenatal diagnosis.

Some of the anatomic endocrine, and genetic aspects of lipoid adrenal hyperplasia were studied in an inbred Israeli-Arab family with two affected sibs. One sib, a genetic female, presented with acute Addisonian crisis. Endocrine studies documented elevated ACTH levels and no detectable steroids of gonadal or adrenal origin. The other patient, a male pseudo-hermaphrodite, was found at autopsy to have typical lipoid adrenal hyperplasia and ectopic adrenal tissue adjacent to an intra-abdominal testicle. Complete vagina, uterus, and fallopian tubes were present in addition to the Wolffian structures. This unique observation supports the view that steroids may be necessary for Müllerian inhibitory factor to induce regression of Müllerian structures. The segregation of 27 autosomal markers was studied in one affected and five unaffected sibs. Genetic linkage to HLA, MNS, and GPT is unlikely. In addition, the affected sib is heterozygote for a haplotype of chromosome 1 which includes the Rh, Fy, PGM-1 systems. Determination of fetal gender by the combined use of ultrasonography and amniocentesis is suggested for prenatal diagnosis and improved risk counselling.

Adrenal Hyperplasia, Congenital↗
PubMed1978

GI absorption of beta-lactam antibiotics II: deviation from pH--partition hypothesis in penicillin absorption through in situ and in vitro lipoidal barriers.

The absorption of propicillin from the rat stomach and small intestine in situ was examined as a function of recirculating solution pH. The in vitro interphase transport from an aqueous buffer of various pH values to the octanol phase was also studied for several penicillins by the use of a two-phase rolling cell. The rate--pH profiles obtained from both in situ and in vitro experiments deviated significantly from the dissociation curves. The degrees of the shifts were approximately 2 pH units for the in situ intestinal absorption of propicillin and in vitro transport of propicillin and cloxacillin, approximately 1.5 pH units for the in vitro transport of penicillin V, and 0.8 pH unit for the in situ stomach absorption of propicillin. These discrepancies from the classical pH--partition hypothesis can be interpreted by the permeation through the lipoidal barrier of the undissociated species of penicillins transported through the aqueous diffusion layer adjacent to the lipoidal surface. All in situ and in vitro experiments tend to support this theory.

Animals↗
PubMed2001

[Lipoid pneumonia following attempted suicide by intravenous injection of lamp oil].

BACKGROUND: Pneumonic complications after intoxication with mineral oils have been described before in the contents of accidental aspiration and oral ingestion. However, intoxication following an intravenous injection leading to a lipoid pneumonia after an attempted suicide is a rare finding. CASE REPORT: A case report is presented of an attempted suicide by intravenously self-injection of 20 ml lamp oil (liquid paraffin). Immediately after injection the patient suffered from dry coughing which changed in the course of the next hours into a productive cough with white thick mucous sputum accompanied by hemoptysis. Additionally, he developed a mild disseminated intravascular coagulation with a fall of thrombocytes, an INR of 1.6 and a rise of D-dimeres. Under a therapy with hydrocortisone, ascorbic acid, ambroxol, acetylcysteine, heparin, antibiotics and oxygen, the patient improved without the need of mechanical ventilation. Initially seen signs of right heart dilatation diminished 3 days after onset of therapy. Apart from pulmonal manifestation no relevant organ damage was observed. The patient was discharged from the intensive care unit 9 days after intoxication and was submitted to psychiatric therapy. CONCLUSION: Lipoid pneumonia caused by intoxication with a mineral oil is a severe disease, whereas in the presented case a relative bland course of the disease has been seen. The employed therapy in this patient might be encouraging for a comparable treatment of pneumological complications resulting from similar clinical pictures.

Adult↗
PubMed2002

Exogenous lipoid pneumonia with unusual CT pattern and FDG positron emission tomography scan findings.

We report a case of an exogenous lipoid pneumonia that appeared as a spiculated calcified mass on CT scan in which a positron emission tomography (PET) scan was performed before histological analysis. The F-18 fluoro-deoxy-D-glucose (FDG) PET showed a pattern highly suggestive of malignancy which, to our knowledge, has not yet been described. Similar to inflammatory and infectious lung diseases, lipoid pneumonia may be a false-positive case of F-18 FDG uptake.

Aged↗
PubMed1991

Metabolism of lipoidal derivatives of estradiol-17-beta in human mammary cancer tissue and cell lines.

Estradiol-17 beta (E2) is converted exclusively to intracellular metabolites, termed lipoidal estrogens [long chain fatty acid 17 beta-esters (E2-L)], by human mammary cancer tissue and cell lines. In order to further evaluate the biological role of lipoidal estrogens, rates of saturation of the estrogen receptor (ER) along with formation of [3H]E2-L have been measured in human mammary cancer cells exposed to 5 nM [3H]E2. Extensive specific binding of E2 to ER in MCF-7 cells (approximately 37%) and ZR-75-1 cells (approximately 62%) occurred before appreciable synthesis of E2-L was evident and the maximum level of E2-L attained was only 3-9% of the E2 specifically bound to ER. In these ER positive cell lines, and in the ER negative cell line MDA-MB-231, an initial rise in the rate of E2-L formation was followed by a decrease at approximately 6 min and re-establishment of a new rate, indicating turnover of the E2-L fraction by esterification-de-esterification reactions. This data does not support the concept that E2-L acts in the transport of E2 to nuclear receptors, but rather than liberation of E2 from E2-L could serve to maintain occupancy of ER necessary for initiation of DNA synthesis. The esterase, as studied in pooled human mammary cancer tissue, was found to hydrolyse E2-17 beta-long chain fatty acid esters at different rates--the enzyme being less active towards E2-17 beta-stearate compared to E2-17 beta-oleate, -linoleate and -linolenate. Esterase activity was significantly higher in MDA-MB-231 cells compared to MCF-7 cells. Treatment of MCF-7 cells with E2 did not alter the specific activity of the esterase towards E2-17 beta-oleate as substrate. Similarly, addition of dibutyryl c-AMP to ZR-75-1 cell cultures was without effect on E2-L, both during the time when E2-L was accumulating, or during a subsequent phase when E2-L was decreasing following transfer to medium lacking E2. Calcitonin, which increases endogenous c-AMP in MCF-7 cells, had no effect on E2-L in this latter phase using this cell line. Thus, no evidence could be provided that the esterase was under E2 control, or control by polypeptide hormones which utilize c-AMP as a second messenger.

Breast Neoplasms↗
PubMed1993

Congenital lipoid adrenal hyperplasia--genes for P450scc, side chain cleavage enzyme, are normal.

In the most severe form of congenital adrenal hyperplasia (CAH), termed lipoid CAH, both the adrenals and gonads fail to convert cholesterol to pregnenolone, so that no steroid hormones are made. Newborns have female external genitalia irrespective of karyotype, and suffer a severe salt-losing form of CAH. Previous studies have shown that adrenal or gonadal mitochondria from these patients also fail to convert cholesterol to pregnenolone in vitro, implicating a lesion in the single gene for P450scc, which is the sole enzyme converting cholesterol to pregnenolone. Two patients with XY karyotypes had female genitalia and unmeasurable steroids after stimulation with ACTH and hCG. ACTH stimulation tests of parents, obligate heterozygotes, showed normal stimulation of all precursor steroids. Southern blotting patterns of the P450scc gene were normal. Oligonucleotide-initiated enzymatic amplification (PCR) of all P450scc exons showed normal sequences on multiple amplifications and sequencing reactions, indicating normal P450scc genes. Northern blots of testicular RNA from a 6-month-old patient and from a control fetus showed normal P450scc mRNA, indicating a normal P450scc promoter. Reprobing of the blot with our cloned human cDNAs for adrenodoxin reductase and adrenodoxin showed that these electron transport cofactors used by P450scc were also normal. Similarly, probing with cDNAs for all three known factors involved in cholesterol transport to the mitochondria-sterol carrier protein 2, endozepine, and steroidogenesis activator peptide were also normal. These results suggest that the lesion in lipoid CAH is not in the P450scc system or in any known step upstream from P450scc.

Adrenal Hyperplasia, Congenital↗
PubMed1985

Inhibition of phospholipid/Ca2+-dependent protein kinase and phosphorylation of leukemic cell proteins by CP-46,665-1, a novel antineoplastic lipoidal amine.

CP-46,665-1, an antineoplastic lipoidal amine, was found to inhibit phospholipid/Ca2+-dependent protein kinase (PL/Ca-PK, or protein kinase C), with an IC50 (concentration causing a 50% inhibition) of 10 microM. Its inhibition of the enzyme was reversed by phosphatidylserine, but not by Ca2+. The agent also inhibited the enzyme activity which was further augmented by 12-0-tetradecanoylphorbol-13-acetate (TPA), mezerein or diolein. Phosphorylation of endogenous proteins from HL-60 cells by the enzyme, with or without being further augmented by TPA, was inhibited by CP-46,665-1 as well as by alkyllysophospholipid (an antineoplastic agent). CP-46,665-1, while without effect on cyclic AMP-dependent protein kinase, also inhibited myosin light chain kinase (a calmodulin/Ca2+-dependent protein kinase). The present findings suggest that inhibition of the Ca2+-effector enzymes may be related in part to the antimetastatic activity of the lipoidal amine.

Animals↗
PubMed2003

Exogenous lipoid pneumonia: serial chest plain roentgenography and high-resolution computerized tomography findings.

Between May 1988 and July 2002, six patients with pneumonia due to diesel, animal, or vegetable oil aspiration were admitted to Kaohsiung Medical University Hospital. The purpose of this study was to demonstrate distinctive radiographic findings of oil-induced lipoid pneumonitis on initial serial chest roentgenograms and high-resolution computerized tomography (CT) scans. Initial chest roentgenograms (n = 6), CT scans (n = 6), and roentgenography and CT follow-up studies were analyzed retrospectively by two chest radiologists and two surgeons, focusing on the pattern and distribution of parenchymal abnormalities. The most common location was the right middle lobe, followed by the right lower lobe, the left lower lobe, and the lingular lobe. Follow-up chest roentgenograms (n = 6) showed complete disappearance of the parenchymal lesions in only one patient and partial decrease in the extent of lesions in five patients. Lipoid pneumonia presents non-specific findings on chest roentgenography. It is commonly located in both lower and the right middle lobes. On high-resolution CT, the lesions appear most commonly as areas of consolidation, ground-glass attenuation mixed with paving pattern, and poorly defined nodules.

Adult↗