Lipoid Proteinosis of Urbach and Wiethe (Lipoidproteinosis)

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.

Also Known As:

Networked: 31 relevant articles (0 outcomes, 4 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hyperplasia
2.	Pulmonary Fibrosis (Hamman Rich Syndrome)
3.	Hypertrophy
4.	Pneumonia (Pneumonitis)
5.	Lipidoses

Experts

1.	Devi, Pratheeba N: 1 article (08/2015)
2.	Mukherjee, Bipasha: 1 article (08/2015)
3.	Basha, Mohamed Ahmed: 1 article (03/2014)
4.	Houla, Nanees Shawky: 1 article (03/2014)
5.	Samaka, Rehab Monir: 1 article (03/2014)
6.	Bakry, Ola Ahmed: 1 article (03/2014)
7.	Knudsen, Lars: 1 article (12/2013)
8.	Boxler, Laura: 1 article (12/2013)
9.	Clark, Howard W: 1 article (12/2013)
10.	Mackay, Rose-Marie: 1 article (12/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lipoid Proteinosis of Urbach and Wiethe:

1.	Silicon Dioxide (Sand)FDA LinkGeneric 02/01/1977 - "Light microscopy of biopsy and necropsy material showed small silicotic nodules, silica particles, and alveolar lipoproteinosis, and ultrastructural studies were performed to define changes in alveolar epithelium and macrophages. " 10/01/1991 - "Increased accumulation in silica-induced pulmonary lipoproteinosis." 01/01/1983 - "Even 1 year after instillation of silica areas of granulomas, silicotic nodules and alveolar lipoproteinosis may be observed in most of the lungs studied; ie, these responses are not mutually exclusive." 01/01/2010 - "On the other hand, intratracheal exposure to large doses of silica induces acute silicosis characterized by granuloma-like formations in the lung associated with apoptosis, severe alveolitis, and alveolar lipoproteinosis. " 01/01/1983 - "Both strains of rats develop silica-containing granulomas, mature silicotic nodules, and areas of alveolar lipoproteinosis associated with interstitial pneumonitis. "
2.	Pulmonary Surfactant-Associated Protein D (Surfactant Protein D)IBA 12/01/2013 - "SP-D knockout mice show accumulations of foamy alveolar macrophages, alveolar lipoproteinosis and pulmonary emphysema. " 10/01/1991 - "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."
3.	RetinoidsIBA 09/01/2004 - "In the present study, we report a 30 year follow up in a female patient with hyalinosis cutis et mucosae treated using dermabrasion and oral retinoids. "
4.	Periodic AcidIBA 08/01/2015 - "Urbach-Wiethe syndrome or lipoid proteinosis is a rare autosomal recessive disorder characterized histologically by infiltration of Periodic acid Schiff-positive hyaline material in the skin, upper aerodigestive tract, eyelids, and internal organs. " 01/01/2001 - "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. " 08/01/2008 - "The lungs contained intra-alveolar accumulation of periodic acid-Schiff positive material, foamy macrophages, and hyperplasia of the alveolar cells, consistent with pulmonary alveolar lipoproteinosis. " 03/31/2014 - "Lipoid proteinosis (Urbach-Wiethe disease) is a rare progressive autosomal recessive disorder, characterized histologically by deposition of periodic acid Schiff-positive, diastase resistant, hyaline-like material into the skin, upper aerodigestive tract, and internal organs. "
5.	QuartzIBA 06/01/1980 - "Microscopically, all exposed groups developed granulomatous pneumonia and alveolar lipoproteinosis; pulmonary fibrosis was most severe in the quartz-exposed groups and progressed with time in these groups. " 08/01/2002 - "Histopathological investigations after four weeks and three months revealed that the used PVNO sample was active in the quartz and amorphous SiO2 groups and markedly reduced the incidences or severity of several pulmonary changes such as macrophage accumulation, inflammatory cell infiltration, interstitial fibrosis, bronchiolo-alveolar hyperplasia, alveolar lipoproteinosis and amorphous SiO2 -induced granulomatous alveolitis/interstitial fibrotic granulomas. " 01/01/1986 - "These results indicate that pyrite, like only a few other types of dust that are different from quartz, can evoke the development of pulmonary alveolar lipoproteinosis in rats." 01/01/1986 - "Moreover, both pyrite-treated rats and quartz-treated rats developed pulmonary alveolar lipoproteinosis; the lesions were much less prominent and severe in animals injected with pyrite than with quartz. "
6.	5-HT2A Serotonin Receptor (5 HT2A Receptor)IBA 03/01/2009 - "Thus, we used [(18)F]altanserin positron emission tomography (PET) referenced to radioligand plasma levels and corrected for partial volume effects to quantify the spatial distribution of 5-HT(2A) receptor binding potential (BP(P)) in a rare patient with Urbach-Wiethe disease and selective bilateral amygdala calcification damage relative to 10 healthy control subjects. "
7.	Interleukin-13IBA 07/01/2002 - "Pulmonary type II cell hypertrophy and pulmonary lipoproteinosis are features of chronic IL-13 exposure."
8.	Extracellular Matrix ProteinsIBA 03/01/1984 - "Skin biopsies from a patient with hyalinosis cutis et mucosae (HCM) were studied by routine histology, electron microscopy, biochemical extractions, and immunofluorescence for extracellular matrix proteins. "
9.	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 03/01/2003 - "Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease."
10.	PhospholipidsIBA 08/01/2003 - "The alveolar lipoproteinosis (ALP) is a rare pulmonary disease, characterized by an excess of phospholipids in the distal airway, and the most symptom of which is dyspnea. "

Therapies and Procedures

1.	Dermabrasion 09/01/2004 - "In the present study, we report a 30 year follow up in a female patient with hyalinosis cutis et mucosae treated using dermabrasion and oral retinoids. "
2.	Gas Lasers 03/01/1997 - "Carbon dioxide laser treatment for lipoid proteinosis (Urbach-Wiethe syndrome) involving the eyelids."
3.	Homologous Transplantation (Allograft) 12/01/1997 - "Alveolar lipoproteinosis in lung allograft recipients."