Lipoidosis cutis et mucosae

Urbach, Erich; Wiethe, C

doi:10.1007/bf02158983

Cited by 251 publications

(119 citation statements)

References 8 publications

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“…From a clinical perspective, patients with mutations outside exon 7, compared to those with mutations inside exon 7, have a similar clinical presentation, but with a more severe phenotype for respiratory and skin manifestations of LiP. Extracutaneous features including epilepsy, mental retardation, migraine and psychiatric abnormalities were equally found in patients lacking only ECM1a compared with patients lacking both transcripts [26][27][28][29][30]. These findings favor the hypothesis that the isoforms containing exon 7 (ECM1a/c) are of more fundamental biological importance than ECM1b [23,27].…”

Section: Ecm1 and Lipoid Proteinosismentioning

confidence: 99%

“…Mutations in ECM1 are causative for LiP, an autosomal recessive disorder, also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae (OMIM 247100) [26,27]. LiP is mainly a mucocutaneous disorder characterised by laryngeal infiltration leading to hoarseness, generalised thickening and scarring of skin and mucosae, beaded eyelid papules, waxy yellow skin papules and nodules.…”

Section: Ecm1 and Lipoid Proteinosismentioning

confidence: 99%

“…LiP is mainly a mucocutaneous disorder characterised by laryngeal infiltration leading to hoarseness, generalised thickening and scarring of skin and mucosae, beaded eyelid papules, waxy yellow skin papules and nodules. Extracutaneous features including epilepsy, mental retardation, migraine and psychiatric abnormalities are also described [26][27][28][29][30]. Increased skin scaling and infiltration occur in regions exposed to mechanical friction including elbows, hands and knees [23].…”

Section: Ecm1 and Lipoid Proteinosismentioning

confidence: 99%

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Importance of Extracellular Matrix Protein 1 (ECM1) in Maintaining the Functional Integrity of the Human Skin

Sercu¹,

Oyama²,

Merregaert³

2009

TODJ

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Abstract:The extracellular matrix protein 1 (ECM1) is an 85 kDa glycoprotein first identified in 1994. The threedimensional structure of ECM1 based on the third serum albumin domain was determined by in silico modelling in order to predict the most important binding site(s) of ECM1 with other protein partners in human skin. ECM1 consists of four domains: a first domain existing of -helices ( D1), the serum albumin subdomain-like (SASDL) domain 2, the sequence homology comparable with the first subdomain of the third serum albumin domain, SASDL3 and SASDL4, resulting in four "finger-like" structures ideal for binding with different proteins. A role for ECM1 was proposed in endochondral bone formation, angiogenesis and skin differentiation. Increased evidence has emerged for a pivotal biological function of ECM1 in human skin; loss of function mutations in the ECM1 gene causes the autosomal recessive genodermatosis lipoid proteinosis and auto-antibodies against ECM1 in the auto-immune disease lichen sclerosus, sharing comparable skin pathology in the affected lesions. ECM1 is capable of binding variable skin structural and extracellular matrix molecules like perlecan, laminin 332, fibulin-1C/D, fibulin-3 and heparin, as well as dermal interstitial molecules like MMP-9, collagen type IV, fibronectin, hyaluronic acid and chondroitin sulphate. In this way, ECM1 could be one of the proteins capable of connecting the basolateral surface of the epidermis through the basement membrane to the underlying dermis, which suggest a role for ECM1 as "biological glue" in maintaining skin integrity and function.

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Section: Ecm1 and Lipoid Proteinosismentioning

confidence: 99%

Section: Ecm1 and Lipoid Proteinosismentioning

confidence: 99%

Section: Ecm1 and Lipoid Proteinosismentioning

confidence: 99%

See 1 more Smart Citation

Importance of Extracellular Matrix Protein 1 (ECM1) in Maintaining the Functional Integrity of the Human Skin

Sercu¹,

Oyama²,

Merregaert³

2009

TODJ

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“…1 LP, also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease (OMIM: 24700) was first described in 1929. 2 It is characterized by varying degrees of hoarseness of voice and skin and mucosal derangements. Associated findings include epilepsy, mild mental retardation, respiratory tract obstruction, abnormal dentition and ocular abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis

Samdani¹,

Azhar²,

Shahid³

et al. 2011

J Dermatol Case Rep

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Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other tissues. Loss-of-function mutation in ECM1 causes a rare autosomal recessive disorder called lipoid proteinosis. Lipoid proteinosis is presented by varying degrees of skin scars, beaded papules along the eyelid margins, variable signs of hoarseness of voice and respiratory disorders. More than 250 cases of this disorder have been described in the literature, but occurrence of lipoid proteinosis in siblings is very rare. This study was designed to investigate the possible mutation causing lipoid proteinosis in a Pakistani family and to elaborate the scope of possible genetic changes, causing the genodermatosis in Pakistan.Main observations: In this study, two siblings (12 and 9-years sisters) were presented with scaly itchy lesions on whole body, hoarse voice and macroglossia. Their deceased father had similar clinical manifestations but mother and younger brother were unaffected. Blood samples from clinically affected and unaffected family members were collected with informed consent. The coding region of ECM1 gene containing 10 exons were amplified and sequenced.Both the affected siblings were shown to have homozygous frame shift mutation by deletion of the nucleotide T at 507, codon 169, exon 6. This resulted in a frame shift from codon 169 and appearance of a premature stop codon at 177, causing formation of a mutated protein (176 amino acids) instead of normal ECM1 protein (540 amino acids).Conclusion: A case of homozygous 62-bp insertion in ECM1 gene causing lipoid proteinosis has been reported in another Pakistani family. The current study presents a homozygous frame shift mutation supporting an unusual function of ECM1 protein and broadens the spectrum of disease-linked mutations in this rare case of genodermatosis in this region.

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“…Lipoid proteinosis, also called Urbach-Weithe disease [1] or hyalinosis cutis et mucosae, is a rare disease with much rarer occurrence in siblings. This genodermatosis is an autosomal recessive disease with involvement of the oral cavity, oropharynx and larynx along with characteristic cutaneous lesions occurring due to deposition of amorphous hyaline material.…”

Section: Introductionmentioning

confidence: 99%

Lipoid proteinosis of the larynx in siblings: exploring new modalities of treatment

Madhira

Qaiyum

Moorthy

2009

Indian J Otolaryngol Head Neck Surg

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Lipoidosis cutis et mucosae

Cited by 251 publications

References 8 publications

Importance of Extracellular Matrix Protein 1 (ECM1) in Maintaining the Functional Integrity of the Human Skin

Importance of Extracellular Matrix Protein 1 (ECM1) in Maintaining the Functional Integrity of the Human Skin

Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis

Lipoid proteinosis of the larynx in siblings: exploring new modalities of treatment

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