574 results match your criteria Lipoid Proteinosis


Pediatric Voice Disorders from the Perspective of Rare Diseases.

J Voice 2021 Jun 2. Epub 2021 Jun 2.

Department of Otorhinolaryngology Head and Neck Surgery, Faculty of Medicine, Ankara University, Ankara, Turkey.

Objective: This study aims to present rare pediatric voice disorders, which are usually reported as case reports in the literature, with their clinical features, treatment options, and prognosis, and to emphasize clinical findings that may be associated with rare diseases.

Methods: The clinical records of the pediatric patients presented with dysphonia were reviewed between 2014 and 2019. The terminology "rare disease" is used to describe diseases where the average prevalence thresholds are between 40 to 50 cases/100,000 people. Read More

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Are the kidneys involved in lipoid proteinosis? Study of 22 patients.

Int J Clin Pract 2021 May 17:e14329. Epub 2021 May 17.

Department of Nephrology, Mehmet Akif Inan Training and Research Hospital, Sanlıurfa, Turkey.

Aim: Lipoid proteinosis (LP) is a systemic, progressive, rare genodermatosis that manifests in early life with mucocutaneous lesions. Kidney involvement has not been described before, hence we aimed to investigate kidney findings in LP patients.

Materials And Methods: In this cross-sectional study, LP patients who were followed up and diagnosed with clinical, histopathological and radiological findings in the Dermatology outpatient clinic were invited to the Pediatric Nephrology Clinic. Read More

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Moniliform blepharosis: A characteristic sign of lipoid proteinosis.

Indian J Dermatol Venereol Leprol 2021 Apr 12:1-2. Epub 2021 Apr 12.

Department of Dermatology, KPC Medical College and Hospital, Kolkata, West Bengal, India.

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A lung mass: Not the usual suspect, but not above suspicion.

Respir Med Case Rep 2021 18;33:101389. Epub 2021 Mar 18.

Department of Respiratory and Critical Care Medicine, Changi General Hospital, Singapore.

Lipoid pneumonia is an entity that is not commonly thought of when faced with opacities on the chest radiograph. The radiological changes of lipoid pneumonia can mimic pneumonia or malignancy. Due to this mimicry, it is commonly missed and alternative diagnoses should always be considered and ruled out when suspecting lipoid pneumonia. Read More

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Lipoid Proteinosis presenting as beaded papules of the eyelid: report of three cases.

BMC Ophthalmol 2021 Jan 13;21(1):35. Epub 2021 Jan 13.

Beijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 100005, Beijing, China.

Background: Lipoid proteinosis (LP) is a rare multisystem inherited disease. We report here in three LP cases with beaded papules of the eyelid. Their clinical presentations, histological characteristics, and genetic findings are described and discussed. Read More

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January 2021

The role of systemic steroids in oral ulcers associated with lipoid proteinosis.

Dermatol Ther 2021 01 9;34(1):e14582. Epub 2020 Dec 9.

Ankara Training and Research Hospital, Department of Dermatology and Venereology, Health Sciences University, Ankara, Turkey.

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January 2021

Evaluation of cochlear involvement and hearing function in lipoid proteinosis patients.

J Cosmet Dermatol 2020 Nov 11. Epub 2020 Nov 11.

Department of Otorhinolaryngology, Sanliurfa Training and Research Hospital, Sanliurfa, Turkey.

Background: Lipoid proteinosis (LP) is a rare genodermatosis involving amorphous hyaline accumulation in the skin, oral mucosa, larynx, mucous membranes, and viscera.

Aims: In this study, we aimed to investigate the effects of hyaline accumulation on cochlear function and hearing in LP patients.

Patients/methods: In this prospective study, 20 patients who were followed up with a diagnosis of LP between October 2016 and April 2020 in our clinic and 20 healthy individuals of the same age and gender, as a control group, were included. Read More

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November 2020

Intracranial calcifications associated with epilepsy: A case report of lipoid proteinosis.

Seizure 2020 Dec 4;83:172-174. Epub 2020 Nov 4.

Department of Neurology University Hospital Virgen Del Rocío, Sevilla, Spain.

Lipoid proteinosis (LP) is a very rare autosomal-recessive disease characterized by multisystem involvement due to intracellular deposition of amorphous hyaline material. Clinical manifestations include hoarness, acne-like facial scarring and neurological manifestation including seizures. We describe the clinical, genetics and radiological features of LP in a refractory epileptic patient with genetic confirmation. Read More

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December 2020

Identification of a novel three-nucleotide duplication in ECM1 in Chinese siblings affected with lipoid proteinosis.

Clin Chim Acta 2021 Jan 4;512:122-126. Epub 2020 Nov 4.

Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing 100005, China. Electronic address:

Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by pathological mutations in the glycoprotein extracellular matrix protein 1 gene (ECM1). In this study, we examined two sibling patients who were suspected of LP in a consanguineous Chinese family for clinical manifestations and sequenced the all coding exonic regions of ECM1 in the proband. Both siblings were detected a homozygous three-nucleotide duplication, c. Read More

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January 2021

Evaluation of inflammatory parameters in lipoid proteinosis patients.

Dermatol Ther 2020 11 8;33(6):e14495. Epub 2020 Nov 8.

Sanlıurfa Training and Research Hospital, Department of Dermatology, Sanlıurfa, Turkey.

Lipoid proteinosis (LP) is a rare metabolic storage disease characterized by the storage of hyaline-like substances in the skin, mucosa, and many other organs. The aim of this study was to compare the neutrophil/lymphocyte ratio (NLR), platelets/lymphocyte ratio (PLR), and mean platelet volume (MPV) values of LP patients with healthy control group and to determine the usefulness of these parameters in determining the inflammatory status in LP patients. This study included 14 patients who were admitted to our clinic between March 2013 and January 2017 and diagnosed as LP with clinical, radiological, and histopathological examinations with 14 individuals who had no systemic inflammatory disease or malignancy and has a hemogram result. Read More

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November 2020

Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Childs Nerv Syst 2020 10 17;36(10):2229-2268. Epub 2020 Sep 17.

Pediatric Neurosurgery, International Neuroscience Institute [INI], Hanover, Germany.

The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms phakoma/phakomata (from the old Greek word "ϕαχοσ" = lentil, spot, lens-shaped) to define similar retinal lesions recorded in tuberous sclerosis (1920) and in neurofibromatosis (1923). He later applied this concept: (a) to similar lesions in other organs (e.g. Read More

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October 2020

Lipoid Proteinosis: Curious Case of Two Siblings!

Indian Dermatol Online J 2020 Jul-Aug;11(4):639-640. Epub 2020 Jul 13.

Smt SCL General Hospital, Saraspur, Ahmedabad, Gujarat, India.

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Lipoid Proteinosis: A Rare Disease In Pediatric Dentistry.

Braz Dent J 2020 Mar-Apr;31(2):186-189

Department of Oral Pathology, São Leopoldo Mandic, Campinas, SP, Brazil.

This report describes the diagnostic process of a rare disorder in a Brazilian female child. The patient presented initially as a 7-year-old with multiple whitish submucosal nodules of a fibrous consistency in the lower lip, but with an inconclusive pathology report. When she turned 9 years of age, she presented with exacerbation of the original clinical findings, which then involved the upper lip, buccal mucosa, tongue and lingual frenulum. Read More

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Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings.

Indian J Dermatol 2020 Jan-Feb;65(1):53-56

Department of Pathology, Jawaharlal Nehru Medical College, Aligarh, Uttar Pradesh, India.

Lipoid proteinosis (LP) is a rare progressive autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 gene present on chromosome 1q21. It is characterized by infiltration of hyaline material into the skin, mucosae, and internal organs. Patients present with a classical history of repeated blistering, skin scarring, beaded eyelid papules, waxy papules over the body, and laryngeal and tongue infiltration leading to hoarseness of voice and restricted tongue movement. Read More

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February 2020

Extracellular Matrix Protein 1 Gene Mutation in Turkish Patients with Lipoid Proteinosis.

Indian J Dermatol 2019 Nov-Dec;64(6):436-440

Department of Sequence Analysis, Sıtkı Koçman University, Elazığ, Turkey.

Background: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by mucocutaneous lesions and hoarseness of voice that develop in early childhood. LP is caused by mutation in the extracellular matrix protein 1 () gene, which is located on 1q21.2. Read More

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January 2020

Emergent high fatality lung disease in systemic juvenile arthritis.

Ann Rheum Dis 2019 12 27;78(12):1722-1731. Epub 2019 Sep 27.

Pediatrics, Prince of Wales Hospital, New Territories, Hong Kong.

Objective: To investigate the characteristics and risk factors of a novel parenchymal lung disease (LD), increasingly detected in systemic juvenile idiopathic arthritis (sJIA).

Methods: In a multicentre retrospective study, 61 cases were investigated using physician-reported clinical information and centralised analyses of radiological, pathological and genetic data.

Results: LD was associated with distinctive features, including acute erythematous clubbing and a high frequency of anaphylactic reactions to the interleukin (IL)-6 inhibitor, tocilizumab. Read More

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December 2019

Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease: Characterization and Risk Factors.

Arthritis Rheumatol 2019 11 1;71(11):1943-1954. Epub 2019 Oct 1.

Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio.

Objective: Systemic juvenile idiopathic arthritis (JIA) is associated with a recently recognized, albeit poorly defined and characterized, lung disease (LD). The objective of this study was to describe the clinical characteristics, risk factors, and histopathologic and immunologic features of this novel inflammatory LD associated with systemic JIA (designated SJIA-LD).

Methods: Clinical data collected since 2010 were abstracted from the medical records of patients with systemic JIA from the Cincinnati Children's Hospital Medical Center. Read More

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November 2019

A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report.

SAGE Open Med Case Rep 2019 19;7:2050313X19850359. Epub 2019 May 19.

Division of Pediatric Dermatology, McGill University Health Center, Montreal Children's Hospital, Montreal, QC, Canada.

Lipoid proteinosis is a rare autosomal recessive genodermatosis that is caused by loss-of-function mutations in the extracellular matrix protein 1 gene. This study identifies a novel nonsense mutation in exon 9 of the extracellular matrix protein 1 gene associated with lipoid proteinosis, contributing to recent advances in our understanding of the molecular genetics underlying this disease. It is important to identify the mutations in the extracellular matrix protein 1 gene that are associated with lipoid proteinosis and how these affect protein function. Read More

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Intravascular cardiac lipoproteinosis: extrarenal manifestation of lipoprotein glomerulopathy.

Cardiovasc Pathol 2019 Sep - Oct;42:6-9. Epub 2019 May 7.

Department of Laboratory Medicine & Pathology, Mayo Clinic, Rochester, MN, USA; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA. Electronic address:

Intracapillary lipoprotein thrombi are a distinct histopathologic finding described in the setting of lipoprotein glomerulopathy. The disease is associated with mutations in the apolipoprotein E gene and responds well to lipid-lowering treatments. Lipoprotein glomerulopathy is thought to primarily affect the kidneys, and lipoprotein thrombi have never been described in any other organ. Read More

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December 2019

Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.

Periodontol 2000 2019 06;80(1):12-27

WHO Collaboration Centre for Epidemiology and Community Dentistry, University of Milan, Milan, Italy.

A large number of disorders may affect the oral cavity, including genetic diseases, infections, cancers, blood diseases, skin diseases, endocrine and metabolic disorders, autoimmune and rheumatologic diseases, local lesions, to name a few. Oral mucosa shows a considerable variation in its normal structure and a wide range of conditions may affect it. Such conditions are often harmless or minor and could be primary or secondary to systemic disease. Read More

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Is it always blepharitis? Urbach-Wiethe syndrome (lipoid proteinosis).

Arq Bras Oftalmol 2019 May-Jun;82(3):242-244. Epub 2019 Mar 25.

Department of Dermatology, Istanbul Medeniyet University School of Medicine, Goztepe, Istanbul, Turkey.

A 12-year-old girl presented with recurrent crusty debris and dandruff at the base of both eyelashes despite having completed different medical treatments. She had had a hoarse voice since her early childhood. Upon anterior segment examination of the eyes, we found yellow-white, bead-like papules on the margins of the eyelids. Read More

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January 2020

Pyoderma gangrenosum in a patient with lipoid proteinosis (Urbach-Wiethe disease).

J Eur Acad Dermatol Venereol 2019 08 3;33(8):e293-e295. Epub 2019 Apr 3.

Department of Dermatology and Allergy, Technical University of Munich, Biedersteiner Straße 29, Munich, 80802, Germany.

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Ulcers and Scars on the Trunk of a 20-month-old Boy: A Quiz.

Acta Derm Venereol 2019 May;99(6):629-630

Department of Dermatology, Hadassah Medical Center, IL-75015 Jericho, Israel.

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A Protective Mechanism against Illusory Perceptions Is Amygdala-Dependent.

J Neurosci 2019 04 25;39(17):3301-3308. Epub 2019 Feb 25.

Department of Psychiatry and Division of Medical Psychology, University of Bonn, Bonn 53127, Germany

Most people have a clear sense of body ownership, preserving them from physical harm. However, perceptual body illusions - famously the rubber hand illusion (RHI) - can be elicited experimentally in healthy individuals. We hypothesize that the amygdala, a core component of neural circuits of threat processing, is involved in protective mechanisms against disturbed body perceptions. Read More

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An Unusual Case of Erythropoietic Protoporphyria Mimicking Lipoid Proteinosis.

Indian J Dermatol 2019 Jan-Feb;64(1):74-75

Private Dermatologist, Dr V.K Jain Skin Care Center, Rohtak, Haryana, India.

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February 2019

[Retracted] Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene.

Mol Med Rep 2019 04 1;19(4):2969. Epub 2019 Feb 1.

Department of Laboratory and Oncology, Yantai Yuhuangding Hospital, Yantai, Shandong 264000, P.R. China.

After the publication of the above article, the Editor of Molecular Medicine Reports received an accusation that this paper contained material taken from the PhD thesis of Dr Xiao Bai of the China Academy of Medical Science & Peking Union Medical College, whose thesis entitled "Study on mutations of ECM1 in lipoid proteinosis" was published online in 2015. After having enquired with the authors regarding this allegation, the first author and the corresponding author, Dr Dong Gao, admitted that she had infringed the rights of Dr Bai, and that it was not appropriate that the following figures were published in the research article: Figs. 1, 2, 4, 5, 6 and 7, which coincided with Figs. Read More

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The role of the basolateral amygdala in dreaming.

Cortex 2019 04 25;113:169-183. Epub 2018 Dec 25.

Department of Psychology, University of Cape Town, Upper Campus, South Africa. Electronic address:

Neuroimaging studies have repeatedly shown amygdala activity during sleep (REM and NREM). Consequently, various theorists propose central roles for the amygdala in dreaming - particularly in the generation of dream affects, which seem to play a major role in dream plots. However, a causal role for the amygdala in dream phenomena has never been demonstrated. Read More

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Punctal and peri-punctal involvement in Urbach-Wiethe syndrome: case report and review of literature.

Orbit 2019 Dec 20;38(6):474-476. Epub 2018 Dec 20.

Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute , Hyderabad , India.

Urbach-Weithe syndrome is an exceedingly rare multisystem disorder characterized by pathognomonic clinical findings of multiple beaded papules along the eyelid margins and peri-ocular areas and hoarseness of voice secondary to intercellular deposition of periodic acid Schiff (PAS)-positive hyaline material. Lacrimal drainage anomalies are not well defined in this syndrome; however, punctal involvement and acquired nasolacrimal duct obstructions have been reported. We present a patient of Urbach-Weithe syndrome with bilateral punctal and peri-punctal involvement. Read More

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December 2019