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Lipoid Proteinosis (Urbach-Wiethe Syndrome)

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Lipoid Proteinosis (Urbach-Wiethe Syndrome). / Hagel, Christian; PANTELIADIS, CP.

Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach . ed. / Christos Panteliadis; Ramsis Benjamin; Christian Hagel. 3. ed. Zürich : Springer International Publishing, 2022. p. 425-428.

Research output: SCORING: Contribution to book/anthology › Chapter › Research

Harvard

Hagel, C & PANTELIADIS, CP 2022, Lipoid Proteinosis (Urbach-Wiethe Syndrome). in C Panteliadis, R Benjamin & C Hagel (eds), Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach . 3 edn, Springer International Publishing, Zürich, pp. 425-428.

APA

Hagel, C., & PANTELIADIS, CP. (2022). Lipoid Proteinosis (Urbach-Wiethe Syndrome). In C. Panteliadis, R. Benjamin, & C. Hagel (Eds.), Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach (3 ed., pp. 425-428). Springer International Publishing.

Vancouver

Hagel C, PANTELIADIS CP. Lipoid Proteinosis (Urbach-Wiethe Syndrome). In Panteliadis C, Benjamin R, Hagel C, editors, Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach . 3 ed. Zürich: Springer International Publishing. 2022. p. 425-428

Bibtex

@inbook{842f2e48a3a94aafb5538bfeb99914f2,
title = "Lipoid Proteinosis (Urbach-Wiethe Syndrome)",
abstract = "Lipoid proteinosis (LiP), otherwise known as Urbach-Wiethe syndrome or hyalinosis cutis et mucosae, is a rare autosomal recessive genodermatosis characterized by a faint hoarse voice, warty skin infiltration and scarring, ocular manifestations and less common neuropsychological problems. It is caused by mutations in the extracellular matrix protein 1 gene (ECM1). South Africa carries one of the largest groups of LiP patients in the world. The Namaqualand cohort of 29 LiP patients in South Africa presents with considerable clinical variability. This group of patients could offer a unique opportunity for genotype-phenotype correlation, which to date has failed to show any specific association. The disease commonly manifests in infancy with hoarseness due to pharyngolaryngeal infiltration and various cutaneous manifestations. This chapter describes the clinical aspects, diagnosis, prognosis and management of the disease.",
author = "Christian Hagel and CP PANTELIADIS",
year = "2022",
month = feb,
day = "4",
language = "English",
isbn = "978-3-030-87892-4",
pages = "425--428",
editor = "Christos Panteliadis and Ramsis Benjamin and Christian Hagel",
booktitle = "Neurocutaneous Disorders",
publisher = "Springer International Publishing",
address = "Switzerland",
edition = "3",

}

RIS

TY - CHAP

T1 - Lipoid Proteinosis (Urbach-Wiethe Syndrome)

AU - Hagel, Christian

AU - PANTELIADIS, CP

PY - 2022/2/4

Y1 - 2022/2/4

N2 - Lipoid proteinosis (LiP), otherwise known as Urbach-Wiethe syndrome or hyalinosis cutis et mucosae, is a rare autosomal recessive genodermatosis characterized by a faint hoarse voice, warty skin infiltration and scarring, ocular manifestations and less common neuropsychological problems. It is caused by mutations in the extracellular matrix protein 1 gene (ECM1). South Africa carries one of the largest groups of LiP patients in the world. The Namaqualand cohort of 29 LiP patients in South Africa presents with considerable clinical variability. This group of patients could offer a unique opportunity for genotype-phenotype correlation, which to date has failed to show any specific association. The disease commonly manifests in infancy with hoarseness due to pharyngolaryngeal infiltration and various cutaneous manifestations. This chapter describes the clinical aspects, diagnosis, prognosis and management of the disease.

AB - Lipoid proteinosis (LiP), otherwise known as Urbach-Wiethe syndrome or hyalinosis cutis et mucosae, is a rare autosomal recessive genodermatosis characterized by a faint hoarse voice, warty skin infiltration and scarring, ocular manifestations and less common neuropsychological problems. It is caused by mutations in the extracellular matrix protein 1 gene (ECM1). South Africa carries one of the largest groups of LiP patients in the world. The Namaqualand cohort of 29 LiP patients in South Africa presents with considerable clinical variability. This group of patients could offer a unique opportunity for genotype-phenotype correlation, which to date has failed to show any specific association. The disease commonly manifests in infancy with hoarseness due to pharyngolaryngeal infiltration and various cutaneous manifestations. This chapter describes the clinical aspects, diagnosis, prognosis and management of the disease.

M3 - Chapter

SN - 978-3-030-87892-4

SP - 425

EP - 428

BT - Neurocutaneous Disorders

A2 - Panteliadis, Christos

A2 - Benjamin, Ramsis

A2 - Hagel, Christian

PB - Springer International Publishing

CY - Zürich

ER -