Lipoid Proteinosis in South Africa

Heyl, T.

doi:10.1159/000252379

Cited by 20 publications

(15 citation statements)

References 2 publications

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“…It is possible that the affected individuals are descendants of two original (related) colonists 33 . It is widely believed that a German settler, Jakobus Cloete, and his sister, Else -some sources say his daughter 34 -who arrived in the Cape in 1652 and who were among the original white settlers -may have been responsible for bringing the gene for LiP into the country 6;16;31;34 . The combination of founder effect and genetic drift -small number of early immigrants, unusually large families for several generations -helps to explain the high prevalence of LiP in South Africa in the immigrant-descended populations 31 .…”

Section: Lipoid Proteinosis In South Africamentioning

confidence: 99%

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The Neuropsychiatry and Neuropsychology Of Lipoid Proteinosis

Thornton¹,

Nel²,

Thornton³

et al. 2008

Journal of Neuropsychiatry

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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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Section: Lipoid Proteinosis In South Africamentioning

confidence: 99%

“…Initially, LiP was considered a disease of "white South Africans" and by 1971 between 40 and 50 people were thought to have it although "four were Cape 'coloured' women" 34 . Stine and Smith 33 note a decreasing frequency of the incidence of LiP in the white Afrikaner South African population.…”

Section: Lipoid Proteinosis In South Africamentioning

confidence: 99%

The Neuropsychiatry and Neuropsychology Of Lipoid Proteinosis

Thornton¹,

Nel²,

Thornton³

et al. 2008

Journal of Neuropsychiatry

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“…A total of 300 observations can be found in the literature, 7 some of which are familial cases. Higher prevalences have been noticed in South Africa and Europe 8,9 . The present familial case is interesting for the clinical variability of the symptoms in the two sisters.…”

Section: Discussionmentioning

confidence: 48%

Hyalinosis cutis et mucosae manifests in different features in two sisters

Stephan

Moutran²,

Maatouk³

et al. 2012

Int J Dermatology

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“…Approximately 250 cases have been described in the literature with a higher prevalence in South Africa and Sweden . [1,2,3] The pathogenesis lies in mutation of gene encoding extracellular matrix protein 1 (ECM1) on chromosome 1q21, human ECM1 codes for glycoprotein of unknown function.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Lipoid Proteinosis

Petkar¹,

Galani²

2017

jemds

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BACKGROUNDLipoid proteinosis is a rare autosomal recessive disorder that presents early in infancy with hoarseness of voice followed by pox like and acneiform scars with infiltration and thickening of skin and certain mucous membranes. Mutations in the gene encoding extracellular matrix protein 1 (ECM1) on chromosome 1q21 is the cause in lipoid proteinosis. On histopathology, cutaneous deposition of amorphous eosinophilic material and thickened capillary dermis was noted. On immunofluorescence, anti-type 4 collagen antibodies were seen. No definitive treatment for disease was present. KEYWORDSLipoid Proteinosis, Extracellular Matrix Protein 1, Anti-Type 4 Collagen Antibody.HOW TO CITE THIS ARTICLE: Petkar S, Galani V. A rare case of lipoid proteinosis.

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Lipoid Proteinosis in South Africa

Cited by 20 publications

References 2 publications

The Neuropsychiatry and Neuropsychology Of Lipoid Proteinosis

The Neuropsychiatry and Neuropsychology Of Lipoid Proteinosis

Hyalinosis cutis et mucosae manifests in different features in two sisters

A Rare Case of Lipoid Proteinosis

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