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PubMed1986

Lipoid proteinosis with pseudomembranous conjunctivitis.

Lipoid proteinosis is a rare autosomal recessive condition characterized by a diffuse mucocutaneous infiltration with histopathologic deposits that are positive for periodic acid-Schiff reagent and a sudanophil substance. We present a 9-year-old boy with lipoid proteinosis. His parents are siblings. He had classical manifestations, such as statural-ponderal delay, hoarseness, yellowish skin papules, atrophic scars, and moniliform blepharosis. A transmission deafness was also found. There were none of the intracranial calcifications that are usual at this age. A pseudomembranous conjunctivitis was surgically treated when he was 4 months old. This clinical manifestation has not hitherto been described in lipoid proteinosis.

Child↗
PubMed1999

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.

Adult↗
PubMed2000

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.

Adolescent↗
PubMed2002

Lipoid proteinosis.

Lipoid proteinosis is a rare, autosomal recessive disorder that presents in early infancy with hoarseness, followed by pox-like and acneiform scars, along with infiltration and thickening of the skin and certain mucous membranes. Histological and ultrastructural examination reveals widespread deposition of hyaline-like material and disruption/reduplication of basement membrane around blood vessels and at the dermal--epidermal junction. Recently, lipoid proteinosis was mapped to 1q21 and pathogenetic loss-of-function mutations were identified in the extracellular matrix protein 1 gene (ECM1). This article reviews the molecular basis of lipoid proteinosis and reassesses the clinico-pathological features of this disorder in light of the new genetic discoveries.

Diagnosis, Differential↗
PubMed2003

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.

Child↗
PubMedDate not supplied

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.

Administration, Oral↗
PubMed1996

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

BACKGROUND: Congenital lipoid adrenal hyperplasia results in severe impairment of steroid biosynthesis in the adrenal glands and gonads that is manifested both in utero and postnatally. We recently found mutations in the gene for the steroidogenic acute regulatory protein in four patients with this syndrome, but it was not clear whether all patients have such mutations or why there is substantial clinical variation in these patients. METHODS: We directly sequenced the gene for steroidogenic acute regulatory protein in 15 patients with congenital lipoid adrenal hyperplasia from 10 countries. Identified mutations were confirmed and recreated in expression vectors, transfected into cultured cells, and assayed for the presence and activity of steroidogenic acute regulatory protein. RESULTS: Fifteen different mutations in the gene for steroidogenic acute regulatory protein were found in 14 patients; the mutation Gln258Stop was found in 80 percent of affected alleles from Japanese and Korean patients, and the mutation Arg182Leu was found in 78 percent of affected alleles from Palestinian patients. We developed diagnostic tests for these and eight other mutations. Thirteen of the 15 mutations were in exons 5, 6, or 7, and all rendered the steroidogenic acute regulatory protein inactive in functional assays. Some mutants with amino acid replacements were capable of normal mitochondrial processing, indicating that the activity of steroidogenic acute regulatory protein is not associated with its translocation into mitochondria. Steroidogenic cells lacking the protein retained low levels of steroidogenesis. This explains the secretion of some steroid hormones by the ovaries after puberty before affected cells accumulate large amounts of cholesterol esters. CONCLUSIONS: The congenital lipoid adrenal hyperplasia phenotype is the result of two separate events, an initial genetic loss of steroidogenesis that is dependent on steroidogenic acute regulatory protein and a subsequent loss of steroidogenesis that is independent of the protein due to cellular damage from accumulated cholesterol esters.

Adrenal Glands↗
PubMed1988

Expression of basement membrane zone genes coding for type IV procollagen and laminin by human skin fibroblasts in vitro: elevated alpha 1 (IV) collagen mRNA levels in lipoid proteinosis.

Basement membrane zone gene expression by fibroblast cultures established from adult human skin was examined by molecular hybridizations with human sequence-specific cDNAs corresponding to pro-alpha 1 (IV) chain of type IV collagen and B2 chain of laminin. Northern transfer analysis of poly(A)+RNA isolated from fibroblast cultures clearly revealed the presence of specific mRNA transcripts, indicating the expression of the genes coding for pro-alpha 1 (IV) and laminin B2 polypeptides. Quantitative estimates of the relative levels of these mRNAs coding for basement membrane zone components indicated that they are of relatively low abundance in control fibroblasts, as compared with mRNAs coding for fibronectin or pro-alpha 1 (I) chain of type I procollagen. In fibroblast cultures established from the lesional skin of a 32-year-old patient with lipoid proteinosis, the levels of mRNA coding for pro-alpha 1 (IV) polypeptides were increased approximately 4.5-fold, as compared with age- and passage-matched control cultures. This increase was selective in that the levels of fibronectin, pro-alpha 1 (I), and beta-actin mRNAs were unaltered in the same cultures. The increase in pro-alpha 1 (IV) mRNA level was also uncoordinate with the expression of the laminin B2 chain gene, which was unaltered in lipoid proteinosis. The selective increase in pro-alpha 1 (IV) mRNA may have relevance to the accumulation of this basement membrane component in the skin in lipoid proteinosis.

Adult↗
PubMed2003

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.

Biopsy, Needle↗
PubMedDate not supplied

"Free-floating" desmosomes in lipoid proteinosis: an inherent defect in keratinocyte adhesion?

The classic features of lipoid proteinosis - beadlike papules and hoarseness - result from the accumulation of hyaline material in the mucocutaneous dermis. However, the characteristic manifestation in children - erosive, crusted lesions that lead to scarring - is rarely discussed and poorly understood. Lipoid proteinosis results from mutations in extracellular matrix protein 1, but the function of this protein is largely unknown. We performed ultrastructural studies on lesional epidermis, cultured monolayer keratinocytes, and raft keratinocyte cultures from blistering lesions of a child with lipoid proteinosis. All sections showed the dissociation of relatively intact desmosomes from keratinocytes, with desmosomes that were "free-floating" in the intercellular spaces or attached by thin strands to the cell membrane. These changes were present in serial sections of both tissue and cultured keratinocytes, suggesting this observation to be an inherent feature of keratinocytes devoid of extracellular matrix protein 1, rather than an artifact. Although additional patients should be studied, the diminished appearance of the inner dense plaque - the region of attachment of keratin intermediate filaments to desmosomal proteins - provides preliminary evidence that extracellular matrix protein 1 may participate in attaching keratin intermediate filaments to desmosomal region protein(s).

Biopsy, Needle↗
PubMed1978

Lipoid nephrosis and focal glomerulosclerosis.

Forty-one renal biopsies from 34 patients presenting over a 7-year period with the nephrotic syndrome or significant proteinuria and considered initially to be cases of lipoid nephrosis have been reviewed, and the results correlated with clinical findings. Lipoid nephrosis was confirmed in 25 of the patients (20 males, 5 females) 6 of whom showed a small proportion of completely sclerosed glomeruli. Twenty-two of these patients were in remission at the time of review. Nine of the patients (4 males, 5 females) showed features typical of focal glomerulosclerosis; only 4 of these were in remission, 4 showed continuing proteinuria, and one had died. The study emphasizes the importance and problems of distinguishing lipoid nephrosis from focal glomerulosclerosis.

Adolescent↗
PubMedDate not supplied

[Immunopathological prediction index of frequent relapses in children with lipoid nephrosis].

Forty-four renal biopsies were performed in the same number of selected patients with the diagnosis of lipoid nephrosis. Immunopathologic studies were carried out in all the biopsies. Positive immunofluorescence to immunoglobulins, complement/or fibrin was found in 21 cases (48%). A correlation was found between immunopathological findings and the number of patients with frequent relapses. More number of patients with frequent relapses were found in the group with positive immunofluorescence (p less than 0.01) than in those with negative results. No explanation was found for this situation; however it is suggested that the glomerular detection of immune proteins with lipoid nephrosis could be a useful parameter to predict frequent relapses in children with lipoid nephrosis.

Adolescent↗
PubMed1994

Lipoid proteinosis of the small bowel.

We describe a 65-year-old-man who presented with acute gastrointestinal bleeding secondary to massive submucosal deposits of hyaline material in the small bowel. The histochemical and ultrastructural features of the hyaline substance were typical of lipoid proteinosis, a rare cutaneous disorder in which, to our knowledge, symptomatic compromise of internal organs has not been described previously. The patient was later found to have mild but characteristic mucocutaneous lesions of lipoid proteinosis, as well as asymptomatic deposits in other gastrointestinal sites. Our case documents that severe visceral involvement may occur in lipoid proteinosis, even in previously undiagnosed patients with mild cutaneous manifestations of the disease.

Hemorrhage↗
PubMed2006

Imaging of congenital lipoid adrenal hyperplasia.

This article describes the specific radiological findings of congenital lipoid adrenal hyperplasia (lipoid CAH) in a phenotypic female and karyotypic 46XY infant. Radiological examination showed enlarged bilateral adrenal glands with fatty accumulation and spared medulla. These findings are key to differentiating lipoid CAH from the diseases that cause adrenal insufficiency during early infancy, including other forms of congenital adrenal hyperplasia.

Adrenal Hyperplasia, Congenital↗
PubMed1988

Epitope expression of gonococcal lipooligosaccharide (LOS). Importance of the lipoidal moiety for expression of an epitope that exists in the oligosaccharide moiety of LOS.

Antigenic expression of lipooligosaccharide (LOS) of strain F62 of Neisseria gonorrhoeae, was investigated with mouse monoclonal IgM antibody 3F11. F62 LOS was modified in various ways in order to understand structural requirements for expression of the 3F11-defined epitope. When the LOS was partially deacylated by treating it with 50 mM NaOH at 80 degrees C for 20 min or with anhydrous hydrazine at 80 degrees C for 20 min, the binding of 3F11 to those deacylated LOS samples decreased significantly. Removal of phosphate groups by treatment of the LOS with HF (4 days at 4 degrees C) did not affect the antigenicity at all. Neither did reduction of carboxyl groups in the LOS molecule (by activation of carboxyl groups with a carbodiimide followed by treatment with NaBH4) alter epitope expression. On oxidation with NaIO4, the LOS lost its antigenicity completely. The presence of Mg2+ did not change the circular dichroism (CD) behavior of F62 LOS. However, the partially deacylated LOS samples showed significantly different CD patterns in the 190-200 nm region compared with F62 LOS, which suggests conformational changes of F62 LOS due to the loss of fatty acids in the lipoidal moiety. Oligosaccharide (OS) and lipoidal components obtained after hydrolysis of F62 LOS with 1% acetic acid, were not recognized by the antibody. The antigenicity of OS was not retained by non-stereospecific acylation of OS with decanoyl chloride. We conclude the following: (1) 3F11-defined epitope exists in the OS moiety of F62 LOS; however, for it to be expressed, the carbohydrate moiety must be in a certain conformation that is defined by an overall structure of the LOS molecule. This structure is significantly influenced by some of the fatty acids in the lipoidal moiety of the LOS molecule; (2) the presence of phosphate or 3-deoxy-manno-2-octulosonic acid (dOclA) is not essential for expression of the 3F11-defined epitope; (3) the presence of divalent cations does not affect epitope expression.

Antibodies, Monoclonal↗
PubMed2005

Lipoid pneumonia: a preventable form of drug-induced lung injury.

We report a case where recurrent "pneumonia" was eventually diagnosed as lipoid pneumonia in an elderly patient with cerebrovascular disease. The discontinuation of paraffin oil laxative led to clinical improvement. Lipoid pneumonia, a foreign body-type reaction to the presence of lipid within lung parenchyma, is probably underdiagnosed and underreported, and paraffin oil laxative is the main causative agent. Paraffin oil is marketed as a food additive, and no information about its hazards is provided to clinicians or patients. We suggest that a change in paraffin oil licensing may decrease the incidence of lipoid pneumonia.

Journal Article↗
PubMedDate not supplied

Lipoid pneumonia in children: clinical and imagenological manifestations.

BACKGROUND: Oil-aspiration pneumonia is still a health problem in countries where infants are forced to receive vegetable or animal oil due to traditional habits. The aim of this paper is to present clinical and imagenological characteristics of lipoid pneumonia (LP) in children and a review of the literature. Distinguishing features of and differences between other series are presented. METHODS: Series of cases. We retrospectively analyzed all records of children with lipoid pneumonia between 1991 and 1996. RESULTS: We found 16 patients aged 1-19 months old with positive oil ingestion in 75% and history of recurrent or persistent pneumonia in 81.2%. In almost 70% of patients, there were underlying conditions known as risk factors of aspiration. Plain films and computed tomography (CT) showed that the right lung was always involved. Fat density was found in only two cases. Bronchoscopy with bronchial lavage was performed in 15 patients, with lipophages positive in each patient. CONCLUSIONS: Lipoid pneumonia must be ruled out in the differential diagnosis in infants with persistent or recurrent pneumonia with or without fever, especially in patients with aspiration risk factors. Bronchoscopy with bronchial lavage and positive lipid-laden alveolar macrophages proved a useful method for diagnosis of this condition. More studies are needed to ascertain the clinical and imagenological evolution of this condition.

Dietary Fats, Unsaturated↗
PubMed2003

Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita.

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most severe form of CAH in which the synthesis of all gonadal and adrenal cortical steroids is markedly impaired. Lipoid CAH may be caused by the defect in either the steroidogenic acute regulatory (StAR) protein or the P450scc. More than 34 different mutations in StAR gene have been identified. Clinically, most of the patients manifest adrenal insufficiency from 1 day to 2 months of age, but some patient show delayed onset of adrenal insufficiency. Affected 46, XY subjects do not show pubertal development, whereas affected 46, XX subjects undergo spontaneous feminization, breast development and cyclical vaginal bleeding at the usual age of puberty. X-linked adrenal hypoplasia congenital (AHC) is a rare congenital adrenal disorder characterized by severe adrenal insufficiency and hypogonadotropic hypogonadism. More than 80 different several intragenic mutations of DAX-1 have been identified. The failure of pubertal development may be caused by either abnormal hypothalamic or pituitary regulation of gonadotropin secretion. In addition, although the testicular steroidogenesis is largely intact, the functional maturity of Sertoli cells and also spermatogenesis are impaired. The type of mutation does not predict clinical phenotype. Thus, unified mechanism how DAX-1 gene defect gives rise to adrenal insufficiency, hypothalamic/pituitary hypogonadism and impaired spermatogenesis remains established.

Adrenal Gland Diseases↗