560 results match your criteria Lipoid Proteinosis


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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http://dx.doi.org/10.1590/0103-6440202003054DOI Listing

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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http://dx.doi.org/10.4103/ijd.IJD_523_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6986117PMC
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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http://dx.doi.org/10.4103/ijd.IJD_365_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862362PMC
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, Stanford University, Stanford, California, USA

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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http://dx.doi.org/10.1136/annrheumdis-2019-216040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065839PMC
December 2019
13 Reads

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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http://dx.doi.org/10.1002/art.41073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817389PMC
November 2019
8 Reads

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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http://dx.doi.org/10.1177/2050313X19850359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537054PMC
May 2019
13 Reads

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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http://dx.doi.org/10.1016/j.carpath.2019.04.006DOI Listing
December 2019
1 Read

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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https://onlinelibrary.wiley.com/doi/abs/10.1111/prd.12261
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http://dx.doi.org/10.1111/prd.12261DOI Listing
June 2019
39 Reads

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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http://dx.doi.org/10.5935/0004-2749.20190051DOI Listing
January 2020
4 Reads

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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http://dx.doi.org/10.1111/jdv.15564DOI Listing
August 2019
4 Reads

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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http://dx.doi.org/10.2340/00015555-3153DOI Listing
May 2019
8 Reads

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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http://dx.doi.org/10.1523/JNEUROSCI.2577-18.2019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6788816PMC

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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http://dx.doi.org/10.4103/ijd.IJD_441_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340227PMC
February 2019
9 Reads

[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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http://dx.doi.org/10.3892/mmr.2019.9925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423551PMC
April 2019
9 Reads

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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https://linkinghub.elsevier.com/retrieve/pii/S00109452183044
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http://dx.doi.org/10.1016/j.cortex.2018.12.016DOI Listing
April 2019
21 Reads

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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https://www.tandfonline.com/doi/full/10.1080/01676830.2018.1
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http://dx.doi.org/10.1080/01676830.2018.1550791DOI Listing
December 2019
26 Reads

A Child With a Hoarse Cry and Intracranial Calcification.

Pediatr Neurol 2018 10 22;87:78-79. Epub 2018 Aug 22.

Dept. of Pediatric Neurology, Childrens Hospital of Michigan, Wayne State University, Detroit, Michigan.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183067
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.013DOI Listing
October 2018
31 Reads

Conjunctival Colloid Milium.

Cornea 2019 Mar;38(3):386-387

Department of Pathology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.

Purpose: To describe a rare case of conjunctival colloid milium.

Methods: Case report.

Results: We report a 45-year-old woman with a history of a slow-growing, painless mass extending from the medial canthal region to the inferior fornix and the inferior bulbar conjunctiva associated with redness. Read More

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http://dx.doi.org/10.1097/ICO.0000000000001824DOI Listing
March 2019
34 Reads

Urbach-Wiethe Disease.

Indian Pediatr 2018 Oct;55(10):923

Department of Dermatology and Venereology, Government Medical College, Haldwani, Uttarakhand, India.

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October 2018
3 Reads

Lipoid Proteinosis: A Rare Cause of Hoarseness.

J Voice 2019 Mar 29;33(2):155-158. Epub 2018 Oct 29.

Department of Otorhinolaryngology-Head and Neck Surgery, Ziekenhuis Oost-Limburg, Genk, Belgium. Electronic address:

Lipoid proteinosis is a rare cause of voice problems. Hoarseness is often the first clinical manifestation of this disorder and can present years before any other symptom. Therefore, it is very important as an otorhinolaryngologist to be familiar with the main characteristics of this disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08921997173010
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http://dx.doi.org/10.1016/j.jvoice.2017.05.024DOI Listing
March 2019
4 Reads

Lipoid Proteinosis.

JAMA Dermatol 2018 12;154(12):1479-1480

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1001/jamadermatol.2018.3435DOI Listing
December 2018
7 Reads

Lipoid Proteinosis: Skin Resurfacing with Combination of Fractional CO and Non-ablative Radio Frequency: A Rare Case Report.

J Cutan Aesthet Surg 2018 Apr-Jun;11(2):91-94

Department of Dermatology, CUTIS Academy of Cutaneous Sciences, Bengaluru, Karnataka, India.

Lipoid proteinosis (LP) is a rare autosomal-recessive genodermatosis, characterized by the deposition of amorphous hyaline-like material in different parts of the body, especially the skin and mucous membranes. Disfiguring lesions predominantly affect the facial appearance. No curative therapy and treatment options limited to symptomatic approaches are available. Read More

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http://dx.doi.org/10.4103/JCAS.JCAS_29_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128159PMC
September 2018
10 Reads

Seeing Fear: It's All in the Eyes?

Trends Neurosci 2018 09;41(9):559-563

Department of Psychology, 125 Nightingale Hall, Northeastern University, Boston, MA 02115, USA; Psychiatric Neuroimaging Division, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Boston, MA, USA. Electronic address:

Is an amygdala necessary to experience and perceive fear? Intriguing evidence comes from patient S.M. who lost her left and right amygdalae to disease. Read More

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http://dx.doi.org/10.1016/j.tins.2018.06.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469707PMC
September 2018
31 Reads

The management of laryngeal lipoid proteinosis.

J Laryngol Otol 2018 Oct 13;132(10):936-939. Epub 2018 Aug 13.

National Centre for Airway Reconstruction,Charing Cross Hospital,Imperial College Healthcare NHS Trust,London,UK.

Background: Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 gene. It is characterised by deposition of hyaline material in the skin and mucous membranes. This paper describes the management of two cases with laryngopharyngeal disease. Read More

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http://dx.doi.org/10.1017/S0022215118001329DOI Listing
October 2018
5 Reads

Lipoid proteinosis: Unfamiliar skin findings delay diagnosis.

JAAD Case Rep 2018 Jul 28;4(6):609-611. Epub 2018 Jun 28.

Department of Dermatology, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.jdcr.2018.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039698PMC
July 2018
8 Reads

Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation.

Ophthalmic Genet 2018 08 2;39(4):550-552. Epub 2018 May 2.

d Department of Psychiatry , Ege University , Izmir , Turkey.

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http://dx.doi.org/10.1080/13816810.2018.1466339DOI Listing
August 2018
7 Reads

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

Mol Med Rep 2018 Jun 24;17(6):8087-8090. Epub 2018 Apr 24.

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

Lipoid proteinosis (LP) is a rare form of dermatosis with autosomal recessive inheritance. The present study hypothesized that an extracellular matrix protein 1 (ECM1) gene mutation forms the pathological basis of LP. The association between ECM1 mutation and LP; however, requires further investigation and was thus investigated in the present study. Read More

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http://dx.doi.org/10.3892/mmr.2018.8928DOI Listing
June 2018
9 Reads

Esophageal Aperistalsis in a Patient with Lipoid Proteinosis.

Middle East J Dig Dis 2018 Jan 14;10(1):55-58. Epub 2018 Jan 14.

Digestive Disease Research Center, Digestive Disease Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

Lipoid proteinosis is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline material in the skin, mucous membrane, and different organs of the body, resulting in a multitude of clinical manifestations. A 34-year-old woman presented with hoarseness, dysphagia, eyelid beeding, and acneiform scars on the facial skin and extremities. The patient was diagnosed clinically as having lipoid proteinosis, which was confirmed by laryngeal biopsy. Read More

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http://dx.doi.org/10.15171/mejdd.2017.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903930PMC
January 2018
49 Reads

Oral manifestations of lipoid proteinosis in a 10-year-old female: A case report and literature update.

Oral Surg Oral Med Oral Pathol Oral Radiol 2018 Oct 14;126(4):e228-e232. Epub 2018 Feb 14.

Division of Oral and Maxillofacial Pathology, Columbia University College of Dental Medicine, New York, NY, USA. Electronic address:

Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by the deposition of amorphous hyaline material in the dermis and submucosal connective tissue. Here, we present a case of LP with significant oral, dermatologic, and neurologic manifestations occurring in a 10 year-old female of Asian descent. In addition to the more typical oral findings of restricted tongue movement and labial and buccal mucosal involvement, this case highlights an unusual pattern of gingival enlargement infrequently reported in the literature. Read More

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http://dx.doi.org/10.1016/j.oooo.2018.01.025DOI Listing
October 2018
14 Reads

Hyalinosis cutis et mucosae: A clinical investigation with special regard to mucosal changes.

J Dtsch Dermatol Ges 2018 Feb 16;16(2):211-213. Epub 2018 Jan 16.

Department of Dermatology, University Hospital Heidelberg, Ruprecht Karls University Heidelberg, Germany.

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http://dx.doi.org/10.1111/ddg.13416DOI Listing
February 2018
2 Reads

Lipoid proteinosis: towards predictive clinical clues.

Authors:
A Abdelmaksoud

Clin Exp Dermatol 2018 04 6;43(3):320-321. Epub 2017 Dec 6.

Mansoura Dermatology, Venerology and Leprology Hospital, 5-Amien Alsamanoudy Street, from AbdelsalamAaref Street, Mansoura, Egypt.

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http://dx.doi.org/10.1111/ced.13312DOI Listing
April 2018
6 Reads

Lipoid proteinosis.

BMJ Case Rep 2017 Oct 20;2017. Epub 2017 Oct 20.

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1136/bcr-2017-221632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665182PMC
October 2017
15 Reads

[An atypical case of lipoid proteinosis].

Ann Pathol 2017 Oct 19;37(5):425-428. Epub 2017 Sep 19.

Service d'anatomie et cytologie pathologiques, centre hospitalier du Mans, 72037 Le Mans cedex 09, France.

The lipoid proteinosis is a rare autosomic recessive genodermatosis characterized histologically by deposits of hyaline-like eosinophilic material of characteristic distribution. We herein report the case of a 56-year-old man admitted for progressive aggravated dementia associated with a late-onset dysphonia. Histologic examination of cutaneous and laryngeal biopsies showed deposits of an amorphous and eosinophilic material arranged around vessels, and adnexal structures, stained by PAS and congo red negative. Read More

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http://dx.doi.org/10.1016/j.annpat.2017.06.009DOI Listing
October 2017
53 Reads

Lipoid proteinosis: A clinical and molecular study in Egyptian patients.

Gene 2017 Sep 15;628:308-314. Epub 2017 Jul 15.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Read More

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http://dx.doi.org/10.1016/j.gene.2017.07.026DOI Listing
September 2017
18 Reads

Lipoid proteinosis: A case with distinct histopathological and radiological findings.

J Cutan Pathol 2017 Oct 25;44(10):887-891. Epub 2017 Jul 25.

Department of Dermatology, Adesh Institute of Medical Science & Research, Bathinda, India.

Lipoid proteinosis is a rare inherited genodermatosis characterized by hyaline deposits in various tissues. Clinically, it manifests with cutaneous as well as extracutaneous features. Periodic acid-Schiff (PAS)-reactive hyaline deposits in the upper dermis, with localization around blood vessels and eccrine sweat glands, in particular, is the histopathological hallmark finding. Read More

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http://dx.doi.org/10.1111/cup.13002DOI Listing
October 2017
8 Reads

Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin.

Acta Derm Venereol 2017 Nov;97(10):1249-1251

Dermatology Division, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy.

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http://dx.doi.org/10.2340/00015555-2752DOI Listing
November 2017
16 Reads

The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.

Clin EEG Neurosci 2018 May 23;49(3):192-196. Epub 2017 Apr 23.

1 Departments of Neurology and Clinical Neurophysiology, Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Lipoid proteinosis (LP) is a rare autosomal recessive disease characterized by deposition of hyaline material in skin and mucosae. Epilepsy, as an extracutaneous manifestation associated with typical mesial temporal calcifications, has already been identified, but its characteristics and long-term prognosis have not been thoroughly investigated. We included 7 consecutive patients with LP with typical intracranial calcifications out of 16 patients with ECM1 mutations and investigated the semiologic features, ictal and interictal EEG findings, and long-term prognosis of epilepsy in this genodermatosis. Read More

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http://journals.sagepub.com/doi/10.1177/1550059417705280
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http://dx.doi.org/10.1177/1550059417705280DOI Listing
May 2018
37 Reads

The Basolateral Amygdalae and Frontotemporal Network Functions for Threat Perception.

eNeuro 2017 Jan-Feb;4(1). Epub 2017 Mar 27.

Brain and Emotion Laboratory, Department of Cognitive Neuroscience, Faculty of Psychology and Neuroscience, Maastricht University, Oxfordlaan 55, 6229 EV Maastricht, The Netherlands; Department of Psychiatry and Mental Health, University of Cape Town, J-Block, Groote Schuur Hospital, Observatory, Cape Town, South Africa; Department of Computer Science, University College London, Gower Street, London WC1E 6BT, United Kingdom.

Although the amygdalae play a central role in threat perception and reactions, the direct contributions of the amygdalae to specific aspects of threat perception, from ambiguity resolution to reflexive or deliberate action, remain ill understood in humans. Animal studies show that a detailed understanding requires a focus on the different subnuclei, which is not yet achieved in human research. Given the limits of human imaging methods, the crucial contribution needs to come from individuals with exclusive and selective amygdalae lesions. Read More

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http://dx.doi.org/10.1523/ENEURO.0314-16.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368167PMC
October 2017
8 Reads

Clinical clues early in the lives of individuals with lipoid proteinosis can determine the course of the disease.

Clin Exp Dermatol 2017 Jun 28;42(4):428-430. Epub 2017 Feb 28.

Department of Dermatology, American University of Beirut Medical Center, PO Box 11-0236, Riad El Solh, Beirut, 1107-2020, Lebanon.

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http://dx.doi.org/10.1111/ced.13075DOI Listing
June 2017
8 Reads

Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases.

Clin Oral Investig 2017 Sep 29;21(7):2245-2251. Epub 2016 Nov 29.

Department of Oral Pathology and Oral Medicine of the Maurice and Gabriela Goldschleger School of Dental Medicine, Tel Aviv University, Tel Aviv, Israel.

Objectives: Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by deposits of hyaline material within skin and mucous membranes of the upper aerodigestive tract, especially the vocal cords. We aimed to investigate possible associations between oral LP (oLP) manifestations and demographic data and extra-oral lesions.

Material And Methods: Cases of oLP were collected following a systematic search of Medline's PubMed and Google Scholar (1948-2014). Read More

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http://dx.doi.org/10.1007/s00784-016-2017-7DOI Listing
September 2017
10 Reads

Beaded papules along the eyelid margins.

Cutis 2016 Oct;98(4):E1-E3

Department of Pathology, Selçuk University, School of Medicine, Konya, Turkey.

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October 2016
11 Reads

Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis.

Chin Med J (Engl) 2016 11;129(22):2765-2766

Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

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http://dx.doi.org/10.4103/0366-6999.193446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126174PMC
November 2016
13 Reads

The dynamic consequences of amygdala damage on threat processing in Urbach-Wiethe Disease. A commentary on Pishnamazi et al. (2016).

Cortex 2017 03 25;88:192-197. Epub 2016 Jul 25.

Brain and Emotion Laboratory, Department of Cognitive Neuroscience, Faculty of Psychology and Neuroscience, Maastricht University, Maastricht, The Netherlands; Department of Psychiatry and Mental Health, University of Cape Town, J-Block, Groote Schuur Hospital, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.cortex.2016.07.013DOI Listing
March 2017
57 Reads
1 Citation
5.130 Impact Factor

Pulmonary melanoma and "crazy paving" patterns in chest images: a case report and literature review.

BMC Cancer 2016 08 3;16:592. Epub 2016 Aug 3.

Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Background: In the lung, melanoma is mostly arranged as patterns of multiple nodules, solitary nodules, or miliary invasions. Very rarely, it also displays a "crazy paving" pattern (also described as a "paving stone," "flagstone," or "slabstone" pattern), which is rarer still in discrete bilateral nodules. This pattern is considered to be caused by pulmonary alveolar proteinosis, but its association with various diseases is unclear. Read More

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http://dx.doi.org/10.1186/s12885-016-2630-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973081PMC
August 2016
14 Reads

Plugs of the Air Passages: A Clinicopathologic Review.

Chest 2016 Nov 19;150(5):1141-1157. Epub 2016 Jul 19.

Department of Pulmonary Medicine, the Respiratory Institute, Cleveland Clinic, Cleveland, OH. Electronic address:

Although mucus is a normal product of the tracheobronchial tree, some diseases of the respiratory tract are characterized by unusually thick (inspissated) forms of mucus that accumulate within the airways. These are known as mucus plugs. The pathologic composition of these plugs is surprisingly diverse and, in many cases, correlates with distinctive clinical, radiologic, and bronchoscopic findings. Read More

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http://dx.doi.org/10.1016/j.chest.2016.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026239PMC
November 2016
51 Reads
1 Citation
7.483 Impact Factor

Lipoid Proteinosis.

Int J Clin Pediatr Dent 2016 Apr-Jun;9(2):149-51. Epub 2016 Jun 15.

Demonstrator, Department of Dentistry, BPS Government Medical College for Women, Khanpur Kalan, Haryana, India.

A case report of a 6-year-old male child who reported with recurrent oral and skin ulcerations since childhood and was diagnosed as lipoid proteinosis manifesting with generalized thickening, hardening, and scarring of the skin and hoarseness of voice; is presented here. How to cite this article: Mittal HC, Yadav S, Malik S, Singh G. Lipoid Proteinosis. Read More

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http://dx.doi.org/10.5005/jp-journals-10005-1353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921886PMC
July 2016
21 Reads

Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis.

Indian J Med Res 2016 Mar;143(3):303-7

Department of Clinical Genetic, NIGEB, Tehran, Iran.

Background & Objectives: Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical characteristics of this disease are hoarse voice, scarring of the skin, brain calcifications, and eyelid papules (moniliform blepharosis). Mutations in the ECM1 gene on 1q21. Read More

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http://dx.doi.org/10.4103/0971-5916.182620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892076PMC
March 2016
30 Reads

A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.

Mol Syndromol 2016 Apr 15;7(1):26-31. Epub 2016 Mar 15.

Departments of Human Genetics, University Witten/Herdecke, Witten, Germany; Departments of Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.

Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in ECM1. Nonsense and missense mutations are the most common variations in LP. Up to date, only 6 splice site mutations have been observed. Read More

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http://dx.doi.org/10.1159/000444615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862396PMC
April 2016
9 Reads