Lipoid proteinosis: report of a possible localized form on both hands and wrists

Hu, Sindy; Kuo, Tseng‐Tong; Hong, Hong‐Shang

doi:10.1111/j.1365-4632.2004.02031.x

Cited by 2 publications

(2 citation statements)

References 14 publications

(11 reference statements)

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“…Scalp involvement may lead to loss of hair, although alopecia is not a significant finding in most cases of LP. Although most cases of LP have generalized skin abnormalities, localized skin changes have been reported (7). The mucosae of the pharynx, tongue, soft palate, tonsils and lips are also infiltrated and this may lead to respiratory difficulty, especially in association with an upper respiratory tract infection, sometimes requiring tracheostomy.…”

Section: Lipoid Proteinosis: Clinical Featuresmentioning

confidence: 99%

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1

Chan¹,

Liu²,

Hamada

et al. 2007

Experimental Dermatology

146

145

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Lipoid proteinosis (OMIM 247100), also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare autosomal recessive disorder characterized by generalized thickening and scarring of the skin and mucosae. In 2002, the disorder was mapped to a locus on chromosome 1q21 and pathogenic mutations were identified in the ECM1 gene, which encodes for the glycoprotein extracellular matrix protein 1 (ECM1). ECM1 has since been shown to have several important biological functions. It has a role in the structural organization of the dermis (binding to perlecan, matrix metalloproteinase-9 and fibulin) as well as being targeted as an autoantigen in the acquired disease lichen sclerosus. ECM1 also shows over-expression in certain malignancies and is abnormally expressed in chronologically aged and photo-aged skin. Thus far, 26 different inherited mutations in ECM1 have been reported in lipoid proteinosis. In this article, we provide an update on the molecular pathology of lipoid proteinosis, including the addition of 15 new mutations in ECM1 to the mutation database, and review the biological functions of the ECM1 protein in health and disease.

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Section: Lipoid Proteinosis: Clinical Featuresmentioning

confidence: 99%

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1

Chan¹,

Liu²,

Hamada

et al. 2007

Experimental Dermatology

146

145

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“…Typically, LiP presents with infantile hoarseness 27 and in at least twothirds of cases voice changes are present at birth or early infancy. However hoarseness and other LiP symptoms may first present in later childhood 52 , puberty 53 , adulthood 37 , or not at all.…”

Section: Dermatological Signsmentioning

confidence: 99%

The Neuropsychiatry and Neuropsychology Of Lipoid Proteinosis

Thornton¹,

Nel²,

Thornton³

et al. 2008

JNP

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Lipoid Proteinosis (LiP) is a rare hereditary disease, which often results in bilateral, symmetrical and circumscribed calcifications in the mesial temporal region (especially the amygdala). While several case studies have been published on individuals with this illness, there have been few systematic investigations of the neuropsychiatry and neuropsychology of a series of patients. Thirty-seven LiP patients were extensively assessed with standardized neuropsychiatric and neuropsychological measures. Of these, 27 patients from the Northern Cape in South Africa were matched (for age, gender, education, language, geographical area) with 53 controls. There was a high incidence of neuropsychiatric disorders in LiP (more than half of the subjects reported a history of depression or anxiety and 12% had a diagnosis of schizophrenia). Despite a wide variance, LiP subjects performed poorly on facial recognition for emotions and on most neuropsychological measures including intelligence, recall and executive functioning. These findings are consistent with involvement of the mesial temporal areas in mood, anxiety, and psychotic symptoms, and in the cognitive-affective processes.

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Lipoid proteinosis: report of a possible localized form on both hands and wrists

Abstract: Figure 8A blood vessel is surrounded by concentric rings of amorphous material (original magnification, × 4000)

Cited by 2 publications

References 14 publications

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1

The Neuropsychiatry and Neuropsychology Of Lipoid Proteinosis

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