Lipoid proteinosis of urbach and wiethe. Medical search. Definitions

An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.

A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR.

Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.

Pneumonia due to aspiration or inhalation of various oily or fatty substances.

An unnaturally deep or rough quality of voice.

Visible efflorescent lesions of the skin caused by acne or resembling acne. (Dorland, 28th ed, p18, 575)

The magnitude of INBREEDING in humans.

Macromolecular organic compounds that contain carbon, hydrogen, oxygen, nitrogen, and usually, sulfur. These macromolecules (proteins) form an intricate meshwork in which cells are embedded to construct tissues. Variations in the relative types of macromolecules and their organization determine the type of extracellular matrix, each adapted to the functional requirements of the tissue. The two main classes of macromolecules that form the extracellular matrix are: glycosaminoglycans, usually linked to proteins (proteoglycans), and fibrous proteins (e.g., COLLAGEN; ELASTIN; FIBRONECTINS; and LAMININ).

Washing out of the lungs with saline or mucolytic agents for diagnostic or therapeutic purposes. It is very useful in the diagnosis of diffuse pulmonary infiltrates in immunosuppressed patients.

A mixture of liquid hydrocarbons obtained from petroleum. It is used as laxative, lubricant, ointment base, and emollient.

An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). (1/34)

Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease (OMIM 247100) is a rare, autosomal recessive disorder typified by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane. The aetiology of LP is currently unknown. Using DNA from three affected siblings in a consanguineous Saudi Arabian family we performed genome-wide linkage and mapped the disorder to 1q21 (marker D1S498) with a two-point LOD score of 3.45 at theta = 0. A further 28 affected individuals from five other unrelated consanguineous family groups from different geographical regions also showed complete linkage and resulted in a maximum two-point LOD score of 21.85 at theta = 0. Using available markers in the interval between D1S442 and D1S305, the observed recombinants placed the gene in a 2.3 cM critical interval between D1S2344 and D1S2343 (Marshfield genetic map) corresponding to an approximately 6.5 Mb region on the UCSC physical map. Using a candidate gene approach (comparison of control versus LP gene expression in cultured fibroblasts) and subsequent direct sequencing of genomic DNA, we identified six different homozygous loss-of-function mutations in the extracellular matrix protein 1 gene (ECM1). Although the precise function of ECM1 is not known, our findings provide the first clinical indication of its relevance to skin adhesion, epidermal differentiation, wound healing, scarring, angiogenesis/angiopathy and basement membrane physiology, as well as defining the molecular basis of this inherited disorder. (+info)

Sequential targeted deficiency of SP-A and -D leads to progressive alveolar lipoproteinosis and emphysema. (2/34)

Surfactant proteins-A and -D (SP-A and SP-D) are members of the collectin protein family. Mice singly deficient in SP-A and SP-D have distinct phenotypes. Both have altered inflammatory responses to microbial challenges. To further investigate the functions of SP-A and SP-D in vivo, we developed mice deficient in both proteins by sequentially targeting the closely linked genes in embryonic stem cells using graded resistance to G-418. There is a progressive increase in bronchoalveolar lavage phospholipid, protein, and macrophage content through 24 wk of age. The macrophages from doubly deficient mice express high levels of the matrix metalloproteinase MMP-12 and develop intense but patchy lung inflammation. Stereological analysis demonstrates significant air space enlargement and reduction in alveolar septal tissue per unit volume, consistent with emphysema. These changes qualitatively resemble the lung pathology seen in SP-D-deficient mice. These doubly deficient mice will be useful in dissecting the potential overlap in function between SP-A and SP-D in host defense. (+info)

Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease. (3/34)

Types A and B Niemann-Pick disease (NPD) are lipid storage disorders caused by the deficient activity of acid sphingomyelinase (ASM). In humans, NPD is associated with the dysfunction of numerous organs including the lung. Gene targeting of the ASM gene in transgenic mice produced an animal model with features typical of NPD, including pulmonary inflammation. To assess mechanisms by which ASM perturbed lung function, we studied lung morphology, surfactant content, and metabolism in ASM-deficient mice in vivo. Pulmonary inflammation, with increased cellular infiltrates and the accumulation of alveolar material, was associated with alterations in surfactant content. Saturated phosphatidylcholine (SatPC) content was increased twofold, and sphingomyelin content was increased 5.5-fold in lungs of the ASM knockout (ASMKO) mice. Additional sphingomyelin enhanced the sensitivity of surfactant inhibition by plasma proteins. Clearance of SatPC from the lungs of ASMKO mice was decreased. Catabolism of SatPC by alveolar macrophages from the ASMKO mouse was significantly decreased, likely accounting for decreased pulmonary SatPC in vivo. In summary, ASM is required for normal surfactant catabolism by alveolar macrophages in vivo. Alterations in surfactant composition, including increased sphingomyelin content, contributed to the abnormal surfactant function observed in the ASM-deficient mouse. (+info)

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. (4/34)

The autosomal recessive disorder lipoid proteinosis results from mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in several tissues (including skin) and composed of two alternatively spliced isoforms, ECM1a and ECM1b, the latter lacking exon 7 of this 10-exon gene (ECM1). To date, mutations that either affect ECM1a alone or perturb both ECM1 transcripts have been demonstrated in six cases. However, lipoid proteinosis is clinically heterogeneous with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurological abnormalities such as temporal lobe epilepsy. In this study, we sequenced ECM1 in 10 further unrelated patients with lipoid proteinosis to extend genotype-phenotype correlation and to add to the mutation database. We identified seven new homozygous nonsense or frameshift mutations: R53X (exon 3); 243delG (exon 4); 507delT (exon 6); 735delTG (exon 7); 785delA (exon 7); 892delC (exon 7) and 1190insC (exon 8), as well as two new compound heterozygous mutations: W160X/F167I (exon 6) and 542insAA/R243X (exons 6/7), none of which were found in controls. The mutation 507delT occurred in two unrelated subjects on different ECM1 haplotypes and may therefore represent a recurrent mutation in lipoid proteinosis. Taken with the previously documented mutations in ECM1, this study supports the view that exons 6 and 7 are the most common sites for ECM1 mutations in lipoid proteinosis. Clinically, it appears that mutations outside exon 7 are usually associated with a slightly more severe mucocutaneous lipoid proteinosis phenotype, but neurological features do not show any specific genotype-phenotype correlation. (+info)

Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease. (5/34)

Patients with Urbach-Wiethe disease constitute a unique nature experiment as more than half have bilaterally symmetrical damage in the amygdaloid region. Ten such patients were studied neuropsychologically and, nine of them, neuroradiologically with static (CT) and functional imaging techniques [single-photon emission computed tomography (SPECT) and PET]. Their principal bilateral amygdala damage was confirmed. Neuropsychologically, the patients showed cognitively little deviation from normal subjects, while they differed emotionally. This was evident in their judgement of all emotions in facial expressions, in an odour-figure association test as well as in remembering negative and positive pictures. This suggests that the human amygdala influences both negative and positive emotional processing. (+info)

Lipoid proteinosis in two siblings: a report from south India. (6/34)

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. (+info)

Lipoid proteinosis in siblings. (7/34)

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. (+info)

Surfactant protein D. Increased accumulation in silica-induced pulmonary lipoproteinosis. (8/34)

Surfactant protein D (SP-D) (CP4) is a collagenous surfactant-associated carbohydrate binding protein that is synthesized and secreted by alveolar epithelial cells. Previous studies have shown that intratracheal administration of crystalline silica to rats elicits a marked increase in the alveolar accumulation of surfactant lipids and surfactant protein A (SP-A). The authors examined the accumulation of SP-D using this animal model of alveolar proteinosis. Immunoperoxidase localization of SP-D studies at 2 weeks after silica instillation showed intense staining of intra-alveolar exudates, and cytoplasmic staining of hypertrophic type II cells. Immunoelectron microscopy showed that airspace SP-D was specifically associated with granular material, but not tubular myelin or other membranous structures. SP-D was quantified in bronchoalveolar lavage by immunoassay using antibodies specific for SP-D, and by reversephase HPLC after affinity purification of SP-D on maltosyl-agarose. Within 2 weeks after silica instillation, there was a greater than 45-fold increase in lavage SP-D per lung compared with saline controls, including an almost ten-fold increase in the insoluble or surfactant-associated protein. These studies indicate that the extracellular accumulation of SP-D is markedly increased in silica-induced lipoproteinosis, and that SP-D is associated with amorphous components identified by electron microscopy. (+info)

Lipoid proteinosis of Urbach and Wiethe is a rare genetic disorder characterized by the accumulation of abnormal protein and lipid (fat) deposits in various tissues throughout the body, particularly in the skin, mucous membranes, and central nervous system. The condition is caused by mutations in the ECM1 gene, which provides instructions for making a protein that is essential for the normal development and maintenance of several types of tissue.

The signs and symptoms of lipoid proteinosis can vary widely among affected individuals, but they typically include:

* Hoarseness or husky voice due to deposition of material in the vocal cords
* Skin abnormalities such as thickened skin, yellowish bumps (xanthomas), and scarring from minor injuries
* Eye problems such as corneal opacities, dry eyes, and increased sensitivity to light
* Central nervous system involvement, including seizures, behavioral abnormalities, and intellectual disability

The accumulation of abnormal protein and lipid deposits in the brain can also lead to an increased risk of developing amyloidosis, a condition in which abnormal proteins called amyloids build up in various organs and interfere with their normal function.

There is no cure for lipoid proteinosis, but treatment is focused on managing the symptoms and complications of the disease. This may include speech therapy for hoarseness, skin care to prevent scarring, and medications to control seizures or other neurological symptoms.

Pulmonary Alveolar Proteinosis (PAP) is a rare lung disorder characterized by the accumulation of surfactant, a lipoprotein complex that reduces surface tension within the alveoli, in the air sacs (alveoli) of the lungs. This accumulation can lead to difficulty breathing and reduced oxygen levels in the blood.

There are three types of PAP:

1. Congenital PAP: A very rare inherited form that affects infants and is caused by a genetic mutation that disrupts the production or function of granulocyte-macrophage colony-stimulating factor (GM-CSF), a protein important for the development and function of alveolar macrophages.

2. Secondary PAP: This form is associated with conditions that impair the clearance of surfactant by alveolar macrophages, such as hematologic disorders (e.g., leukemia), infections, exposure to inhaled irritants (e.g., silica dust), and certain medications.

3. Idiopathic PAP: The most common form, also known as autoimmune PAP, is caused by the development of autoantibodies against GM-CSF, which disrupts its function and leads to surfactant accumulation in the lungs.

Treatment for PAP may include whole lung lavage (WLL), a procedure where the affected lung is filled with saline solution and then drained to remove excess surfactant, as well as managing any underlying conditions. In some cases of idiopathic PAP, off-label use of inhaled GM-CSF has shown promise in improving symptoms and lung function.

Lipidoses are a group of genetic disorders characterized by abnormal accumulation of lipids (fats or fat-like substances) in various tissues and cells of the body due to defects in lipid metabolism. These disorders include conditions such as Gaucher's disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, and Wolman disease, among others. The accumulation of lipids can lead to progressive damage in multiple organs, resulting in a range of symptoms and health complications. Early diagnosis and management are essential for improving the quality of life and prognosis of affected individuals.

I'm sorry for any confusion, but "Lipid Pneumonia" is not a type of pneumonia that is defined by the presence of lipids in the lungs. Instead, it refers to a condition where an abnormal amount of lipids or fatty substances accumulate in the lung tissue, which can lead to inflammation and infection, resulting in pneumonia.

Lipid pneumonia can occur due to various reasons, such as aspiration of lipid-containing materials (like oil-based nasal drops, mineral oil, or contaminated food), impaired lipid metabolism, or lung damage from certain medical conditions or treatments. The accumulation of these fatty substances in the lungs can cause an inflammatory response, leading to symptoms similar to those seen in other types of pneumonia, such as cough, fever, chest pain, and difficulty breathing.

Therefore, lipid pneumonia is not a medical definition per se but rather a term used to describe a condition where lipids accumulate in the lungs and cause inflammation and infection.

Hoarseness is a condition characterized by an abnormal change in the quality of voice, making it sound rough, breathy, strained, or weak. Medically, it's described as a disorder of phonation, which is the process of producing sound by vibrating the vocal cords in the larynx (voice box). Hoarseness can be caused by various factors, such as inflammation, irritation, or injury to the vocal cords, and may result in symptoms like altered voice pitch, volume, and clarity. It's essential to consult a healthcare professional if hoarseness persists for more than two weeks, especially if it's accompanied by other concerning symptoms like difficulty swallowing or breathing.

Acneiform eruptions refer to skin conditions that resemble or mimic the appearance of acne vulgaris. These eruptions are characterized by the presence of papules, pustules, and comedones on the skin. However, acneiform eruptions are not true acne and can be caused by various factors such as medications, infections, or underlying medical conditions.

Some examples of acneiform eruptions include:

* Drug-induced acne: Certain medications such as corticosteroids, lithium, and antiepileptic drugs can cause an acne-like rash as a side effect.
* Rosacea: A chronic skin condition that causes redness, flushing, and pimple-like bumps on the face.
* Pseudofolliculitis barbae: A condition that occurs when curly hair grows back into the skin after shaving, causing inflammation and acne-like lesions.
* Gram-negative folliculitis: A bacterial infection that can occur as a complication of long-term antibiotic use for acne treatment.

It is important to distinguish acneiform eruptions from true acne vulgaris, as the treatment approach may differ depending on the underlying cause. Dermatologists or healthcare providers specializing in skin conditions can provide an accurate diagnosis and recommend appropriate treatment options.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

Extracellular matrix (ECM) proteins are a group of structural and functional molecules that provide support, organization, and regulation to the cells in tissues and organs. The ECM is composed of a complex network of proteins, glycoproteins, and carbohydrates that are secreted by the cells and deposited outside of them.

ECM proteins can be classified into several categories based on their structure and function, including:

1. Collagens: These are the most abundant ECM proteins and provide strength and stability to tissues. They form fibrils that can withstand high tensile forces.
2. Proteoglycans: These are complex molecules made up of a core protein and one or more glycosaminoglycan (GAG) chains. The GAG chains attract water, making proteoglycans important for maintaining tissue hydration and resilience.
3. Elastin: This is an elastic protein that allows tissues to stretch and recoil, such as in the lungs and blood vessels.
4. Fibronectins: These are large glycoproteins that bind to cells and ECM components, providing adhesion, migration, and signaling functions.
5. Laminins: These are large proteins found in basement membranes, which provide structural support for epithelial and endothelial cells.
6. Tenascins: These are large glycoproteins that modulate cell adhesion and migration, and regulate ECM assembly and remodeling.

Together, these ECM proteins create a microenvironment that influences cell behavior, differentiation, and function. Dysregulation of ECM proteins has been implicated in various diseases, including fibrosis, cancer, and degenerative disorders.

Bronchoalveolar lavage (BAL) is a medical procedure in which a small amount of fluid is introduced into a segment of the lung and then gently suctioned back out. The fluid contains cells and other materials that can be analyzed to help diagnose various lung conditions, such as inflammation, infection, or cancer.

The procedure is typically performed during bronchoscopy, which involves inserting a thin, flexible tube with a light and camera on the end through the nose or mouth and into the lungs. Once the bronchoscope is in place, a small catheter is passed through the bronchoscope and into the desired lung segment. The fluid is then introduced and suctioned back out, and the sample is sent to a laboratory for analysis.

BAL can be helpful in diagnosing various conditions such as pneumonia, interstitial lung diseases, alveolar proteinosis, and some types of cancer. It can also be used to monitor the effectiveness of treatment for certain lung conditions. However, like any medical procedure, it carries some risks, including bleeding, infection, and respiratory distress. Therefore, it is important that the procedure is performed by a qualified healthcare professional in a controlled setting.

Medical Definition of Mineral Oil:

Mineral oil is a commonly used laxative, which is a substance that promotes bowel movements. It is a non-digestible, odorless, and tasteless oil that is derived from petroleum. When taken orally, mineral oil passes through the digestive system without being absorbed, helping to soften stools and relieve constipation by increasing the weight and size of the stool, stimulating the reflexes in the intestines that trigger bowel movements.

Mineral oil is also used topically as a moisturizer and emollient for dry skin conditions such as eczema and dermatitis. It forms a barrier on the skin, preventing moisture loss and protecting the skin from irritants. However, mineral oil should not be used on broken or inflamed skin, as it can trap bacteria and delay healing.

It is important to note that long-term use of mineral oil laxatives can lead to dependence and may interfere with the absorption of fat-soluble vitamins such as A, D, E, and K. Therefore, it should be used only under the guidance of a healthcare professional.

A nonsense codon is a sequence of three nucleotides in DNA or RNA that does not code for an amino acid. Instead, it signals the end of the protein-coding region of a gene and triggers the termination of translation, the process by which the genetic code is translated into a protein.

In DNA, the nonsense codons are UAA, UAG, and UGA, which are also known as "stop codons." When these codons are encountered during translation, they cause the release of the newly synthesized polypeptide chain from the ribosome, bringing the process of protein synthesis to a halt.

Nonsense mutations are changes in the DNA sequence that result in the appearance of a nonsense codon where an amino acid-coding codon used to be. These types of mutations can lead to premature termination of translation and the production of truncated, nonfunctional proteins, which can cause genetic diseases or contribute to cancer development.

Staut, C. C. V.; Naidich, T. P. (1998). "Urbach-Wiethe Disease(Lipoid Proteinosis)". Pediatric Neurosurgery. 28 (4): 212-214. ... Cinaz P.; Guvenir T.; Gonlusen G. (1993). "Lipoid proteinosis: Urbach-Wiethe disease". Acta Paediatrica. 82 (11): 892-3. doi: ... Urbach-Wiethe disease is very rare; there are fewer than 300 reported cases in medical literature. Although Urbach-Wiethe ... Urbach and Wiethe. Its original name of lipoidosis cutis et mucosae was changed to lipoid proteinosis cutis et mucosae due ...

https://en.wikipedia.org/wiki/Urbach%E2%80%93Wiethe_disease

Lipoid proteinosis is a condition that results from the formation of numerous small clumps (deposits) of proteins and other ... Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature. Orbit. 2011 Oct;30(5): ... medlineplus.gov/genetics/condition/lipoid-proteinosis/ Lipoid proteinosis. ... Lipoid proteinosis is caused by mutations in the ECM1 gene. This gene provides instructions for making a protein that is found ...

https://medlineplus.gov/genetics/condition/lipoid-proteinosis/

Lipoid proteinosis is a rare autosomal recessive genodermatosis characterized by the deposition of an amorphous hyaline ... Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature. Orbit. 2011 Oct. 30(5 ... Chatterjee A, Viswanathan LG, Nagappa M, Sinha S. Lipoid Proteinosis (Urbach-Wiethe Disease): A Rare Genodermatosis with ... encoded search term (Lipoid Proteinosis) and Lipoid Proteinosis What to Read Next on Medscape ...

https://emedicine.medscape.com/article/1103357-overview

Lipoid proteinosis, Urbach-Wiethe disease, Hyalinosis cutis et mucosae, Hoarseness References Urbach E, Wiethe C. Lipoidosis ... Background: Urbache-Wiethe disease (Lipoid Proteinosis) is a rare autosomal recessive disordercharacterized by the deposition ... URBACH-WIETHE DISEASE: EXPERIENCE AT A TERTIARY CARE HOSPITAL IN ABBOTTABAD, PAKISTAN Authors. * Javeria Javeria ... Results: Five cases were diagnosed as suffering from Lipoid Proteinosis over the studyperiod. All had typical features of ...

https://jamc.ayubmed.edu.pk/jamc/index.php/jamc/article/view/3853?articlesBySameAuthorPage=1