Lipoid Proteinosis or Emfantile Systemic Hyalinosis?

Glover, Mary; Lake, B. D.; Atherton, D.J.

doi:10.1111/j.1525-1470.1993.tb00407.x

Cited by 3 publications

(1 citation statement)

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“…The main pathologic feature is widespread hyalinosis of many tissues and organs. Clinical differentiation from other genetic bromatoses continues to be dif cult: cases of ISH were misclassi ed as Winchester syndrome (3,4) or lipoid proteinosis (5). It was proposed that a distinction should be made between ISH and juvenile systemic hyalinosis (JSH) (6,7).…”

Section: Infantile Systemic Hyalinosis: a Case With Atypical Prolongementioning

confidence: 99%

Infantile systemic hyalinosis: a case with atypical prolonged survival

Thauvin‐Robinet¹,

Faivre²,

Beer

et al. 2001

Acta Paediatrica

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Section: Infantile Systemic Hyalinosis: a Case With Atypical Prolongementioning

confidence: 99%

Infantile systemic hyalinosis: a case with atypical prolonged survival

Thauvin‐Robinet¹,

Faivre²,

Beer

et al. 2001

Acta Paediatrica

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Fibromatoses, Hyalinoses and Stiff Skin Syndrome

Mancini

Oranje

Hollander

et al. 2011

Harper's Textbook of Pediatric Dermatology

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

Hamada¹

2002

Human Molecular Genetics

267

271

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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.

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Lipoid Proteinosis or Emfantile Systemic Hyalinosis?

Cited by 3 publications

References 0 publications

Infantile systemic hyalinosis: a case with atypical prolonged survival

Infantile systemic hyalinosis: a case with atypical prolonged survival

Fibromatoses, Hyalinoses and Stiff Skin Syndrome

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

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