Lipoid proteinosis

McGrath, John A.

doi:10.1016/b978-0-444-62702-5.00023-8

Cited by 27 publications

(28 citation statements)

References 30 publications

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“…Deposition of hyaline-like material in the upper respiratory tract may lead to respiratory difficulty and recurrent infections. Involvement of the central nervous system in Urbach-Wiethe disease is manifested by seizures, headaches, psychotic symptoms, memory impairment and behavioural disturbances [12]. Accumulation of hyaline in the gastrointestinal tract most likely does not present with clinical manifestations [13].…”

Section: Wprowadzeniementioning

confidence: 99%

Lipoid proteinosis: different clinical features in two siblings

Łuczak¹,

Wojtowicz-Prus²,

Śmigiel³

et al. 2019

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Introduction. Lipoid proteinosis is a rare autosomal recessive disease caused by mutations in the extracellular matrix protein 1 gene (ECM1). Abnormal function of ECM1 protein leads to accumulation of hyaline material in tissues. Objective. To present a case of a 6-year-old patient and his 4-year-old sister with different clinical features of lipoid proteinosis. Case report. A six-year-old boy with chronic hoarseness presented to the Dermatology Department because of polymorphic cutaneous lesions: erythema, erosions, crusts, atrophic scars, foci of hypopigmentation and hyperpigmentation. Histological examination of the skin revealed hyaline deposits. The patient's younger sister presented with beaded papules on the margin of the eyelids and chronic hoarseness. A genetic test revealed that ECM1 was compound heterozygous in both siblings. Conclusion. One type of ECM1 gene mutation can determine various clinical manifestations of lipoid proteinosis. STRESzczEniE Wprowadzenie. Lipoproteinoza jest rzadką chorobą dziedziczoną autosomalnie recesywnie, związaną z gromadzeniem się złogów hialiny w tkankach wskutek mutacji w genie kodującym białko 1 macierzy zewnątrzkomórkowej (ECM1). Cel pracy. Przedstawienie przypadku 6-letniego pacjenta oraz jego 4-letniej siostry, u których stwierdzono objawy lipoproteinozy o różnym nasileniu. Opis przypadku. Sześcioletni chłopiec z przewlekłą chrypką został przyjęty do oddziału dermatologicznego z powodu polimorficznych zmian skórnych: rumieni, nadżerek, strupów, blizn zanikowych, ognisk odbarwień i przebarwień, zlokalizowanych głównie na szyi, w okolicy pach, zgięć łokciowych i podkolanowych. W badaniu histopatologicznym skóry stwierdzono złogi hialiny. U młodszej siostry pa

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Section: Wprowadzeniementioning

confidence: 99%

Lipoid proteinosis: different clinical features in two siblings

Łuczak¹,

Wojtowicz-Prus²,

Śmigiel³

et al. 2019

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“…Lipoid proteinosis (LP), which is known as hyalinosis cutis et mucosae or Urbach-Wiethe disease, is an infrequently seen lysosomal storage disease with a chronic course that is characterised by hyalin substance accumulation in mucous membranes, skin, internal organs and the brain [1]. The clinical findings of LP show variations and generally start with voice restrictions in the neonatal period.…”

Section: Introductionmentioning

confidence: 99%

Determination of the Carnitine and Acylcarnitine Profile in Patients with Lipoid Proteinosis

Gönel¹,

Koyuncu²,

Aksoy³

et al. 2019

Preprint

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Background and objectives: Lipoid proteinosis (LP) is an autosomal recessive transfer lysosomal storage disease, characterised by the accumulation of hyalin substance in the mucous membranes, skin, internal organs and brain, for which there is no biochemical diagnostic method. The aim of this study was to determine the carnitine and acylcarnitine metabolic profile with LC-MS/MS in LP patients and thereby examine the potential of this as a new biochemical method in the determination of biochemical markers in LP patients. Materials and Methods: In this study, 27 carnitine and acylcarnitine esters were measured with LC-MS/MS in serum samples taken from 14 healthy control subjects and 14 patients who presented at the Skin and Venereal Diseases Polyclinic and were diagnosed with LP as a result of clinical, radiological and histopathological examinations. Results: The results of the study showed that C0 (free carnitine) C3, C4, C4:DC, C5DC, C6, C8, C14:1, C14:2, C16 and C18 acylcarnitines were statistically significantly reduced in the LP patients (p<0.05, p<0.01). Conclusions: It was concluded that the application of carnitine profile screening, which is an inexpensive, rapid and reliable method, could make a contribution to the differential diagnosis as aa supporting laboratory test in individuals with suspected LP.

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“…Lipoid proteinosis (LP), also referred to as hyalinosis cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis characterized by a hoarse voice, and thickening of the skin and mucous membranes with pox-like scarring (1,2). Onset is usually in infancy, with hoarse cry, while skin lesions can manifest in early childhood or later.…”

mentioning

confidence: 99%

“…Mucosal lesions always comprise vocal cord and laryngeal thickening, accompanied by variable tongue, palate, and lip infiltration. Extracutaneous signs may include epilepsy and neuropsychiatric disorders associated with cerebral calcifications (1,2). LP is characterized by periodic acid-Schiff (PAS)-positive basement membrane thickening around blood vessels, adnexa, and along the dermal-epidermal junction (DEJ), as well as hyaline deposition in the dermis.…”

mentioning

confidence: 99%

“…LP is characterized by periodic acid-Schiff (PAS)-positive basement membrane thickening around blood vessels, adnexa, and along the dermal-epidermal junction (DEJ), as well as hyaline deposition in the dermis. The disease is due to mutations in the ECM1 gene, which has 4 major splice variants encoding isoforms of extracellular matrix protein 1 involved in the structural organization of the dermis (1)(2)(3)(4).…”

mentioning

confidence: 99%

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