544 results match your criteria Lipoid Proteinosis


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.

View Article

Download full-text PDF

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

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

Mol Med Rep 2019 Feb 1. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3892/mmr.2019.9925DOI Listing
February 2019

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

Orbit 2018 Dec 20:1-3. Epub 2018 Dec 20.

a 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

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/01676830.2018.1
Publisher Site
http://dx.doi.org/10.1080/01676830.2018.1550791DOI Listing
December 2018
4 Reads

A Child With a Hoarse Cry and Intracranial Calcification.

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

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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08878994183067
Publisher Site
http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.013DOI Listing
October 2018
7 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

View Article

Download full-text PDF

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

Urbach-Wiethe Disease.

Indian Pediatr 2018 Oct;55(10):923

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

View Article

Download full-text PDF

Source
October 2018

Lipoid Proteinosis: A Rare Cause of Hoarseness.

J Voice 2018 Oct 29. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jvoice.2017.05.024DOI Listing
October 2018

Lipoid Proteinosis.

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

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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tins.2018.06.009DOI Listing
September 2018
19 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S0022215118001329DOI Listing
October 2018
2 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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2018.1466339DOI Listing
August 2018
2 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3892/mmr.2018.8928DOI Listing
June 2018
1 Read

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.15171/mejdd.2017.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903930PMC
January 2018
25 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.oooo.2018.01.025DOI Listing
October 2018
5 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.13312DOI Listing
April 2018
2 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2017-221632DOI Listing
October 2017
4 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.annpat.2017.06.009DOI Listing
October 2017
19 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2017.07.026DOI Listing
September 2017
6 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cup.13002DOI Listing
October 2017
3 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2752DOI Listing
November 2017
7 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

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/1550059417705280
Publisher Site
http://dx.doi.org/10.1177/1550059417705280DOI Listing
May 2018
19 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

View Article

Download full-text PDF

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

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

Clin Exp Dermatol 2017 Feb 28. Epub 2017 Feb 28.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.13075DOI Listing
February 2017
2 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

View Article

Download full-text PDF

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

Beaded papules along the eyelid margins.

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

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

View Article

Download full-text PDF

Source
October 2016
7 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0366-6999.193446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126174PMC
November 2016
8 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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cortex.2016.07.013DOI Listing
March 2017
26 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12885-016-2630-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973081PMC
August 2016
6 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.chest.2016.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026239PMC
November 2016
24 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5005/jp-journals-10005-1353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921886PMC
July 2016
3 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0971-5916.182620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892076PMC
March 2016
10 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

View Article

Download full-text PDF

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

Attentional bias towards and away from fearful faces is modulated by developmental amygdala damage.

Cortex 2016 08 22;81:24-34. Epub 2016 Apr 22.

UCL Institute of Cognitive Neuroscience, University College London, London, United Kingdom; Wellcome Trust Centre for Imaging Neuroscience, University College London, London, United Kingdom.

The amygdala is believed to play a major role in orienting attention towards threat-related stimuli. However, behavioral studies on amygdala-damaged patients have given inconsistent results-variously reporting decreased, persisted, and increased attention towards threat. Here we aimed to characterize the impact of developmental amygdala damage on emotion perception and the nature and time-course of spatial attentional bias towards fearful faces. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cortex.2016.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962776PMC
August 2016
3 Reads

Translational neuroscience of basolateral amygdala lesions: Studies of Urbach-Wiethe disease.

J Neurosci Res 2016 Jun;94(6):504-12

Department of Psychology, Utrecht University, Utrecht, The Netherlands.

Urbach-Wiethe disease (UWD) is an extremely rare autosomal recessive disorder characterized by mutations in the extracellular matrix protein 1 gene on chromosome 1. Typical clinical manifestations include voice hoarseness in early infancy and neuropsychiatric, laryngeal, and dermatological pathologies later in life. Neuroimaging studies have revealed a pattern of brain calcification often but not exclusively leading to selective bilateral amygdala damage. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jnr.23731DOI Listing
June 2016
8 Reads

The role of the basolateral amygdala in the perception of faces in natural contexts.

Philos Trans R Soc Lond B Biol Sci 2016 May;371(1693)

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

The amygdala is a complex structure that plays its role in perception and threat-related behaviour by activity of its specific nuclei and their separate networks. In the present functional magnetic resonance imaging study, we investigated the role of the basolateral amygdala in face and context processing. Five individuals with focal basolateral amygdala damage and 12 matched controls viewed fearful or neutral faces in a threatening or neutral context. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1098/rstb.2015.0376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4843614PMC
May 2016
4 Reads
6 Citations
7.055 Impact Factor

Urbach-Weithe disease (lipoid proteinosis): A classical presentation.

Indian Dermatol Online J 2016 Mar-Apr;7(2):143-4

Department of Dermatology, Venereology and Leprology, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.

View Article

Download full-text PDF

Source
http://www.idoj.in/text.asp?2016/7/2/143/178089
Publisher Site
http://dx.doi.org/10.4103/2229-5178.178089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4804595PMC
April 2016
3 Reads

A Case Report: Hybrid Treatment Approach to Lipoid Proteinosis of the Larynx.

J Voice 2017 Jan 1;31(1):128.e15-128.e19. Epub 2016 Apr 1.

Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.. Electronic address:

Objective: Previous research on treatment of lipoid proteinosis has focused on genetic etiology and clinical diagnosis of this rare laryngeal disorder. However, few studies on this disorder have examined treatment methods directed at improving voice qualities. The purpose of this study was to examine a novel hybrid treatment approach and its improvements in the patient's voice quality. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jvoice.2015.12.007DOI Listing
January 2017
3 Reads

Lipoid proteinosis.

Acta Dermatovenerol Alp Pannonica Adriat 2016 ;25(1):19-21

Department of Dermatology and Venereology, Erciyes University Faculty of Medicine, Kayseri, Turkey.

Lipoid proteinosis (LP) is an uncommon, autosomal, recessively inherited disorder. It is typically characterized by hoarseness from early infancy, together with various cutaneous manifestations such as waxy papules, acneiform scarring, and eyelid beading. A 42-year-old woman was admitted to our dermatology outpatient clinic complaining of rigidity of the oral mucosa and limitation in tongue movement. Read More

View Article

Download full-text PDF

Source
January 2017
4 Reads

The eye and the skin in nonendocrine metabolic disorders.

Clin Dermatol 2016 Mar-Apr;34(2):166-82. Epub 2015 Dec 7.

Department of Ophthalmology, Poznań City Hospital, ul. Szwajcarska 3, 61-285 Poznań, Poland; Department of Ophthalmology, University of Warmia and Mazury, Olsztyn, Poland. Electronic address:

As metabolism is controlled by the input of genes and the environment, metabolic disorders result from some disturbance in the interaction between genes and environmental factors. Many metabolic disorders consist in congenital enzyme deficiencies, also known as "inborn errors of metabolism," that may be disabling or cause severe illness and death and are predominantly inherited in an autosomal recessive fashion. The deposit in cells and tissues of storage substances from errors in metabolic processes may produce a wide variety of disorders affecting different organs and functions, with different degrees of severity, and often present around the time of birth or early childhood. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clindermatol.2015.12.002DOI Listing
December 2016
10 Reads

Urbach-Wiethe disease in a young woman: A case report.

Ear Nose Throat J 2016 Jan;95(1):E14-6

Department of Otorhinolaryngology-Head and Neck Surgery, University Hospital of Cologne, Kerpener Str. 62, 50924 Cologne, Germany.

Urbach-Wiethe disease (lipoid proteinosis) is an autosomal recessive disorder that is characterized by a general thickening of the skin and mucous membranes. We report the case of a 22-year-old woman with lipoid proteinosis who presented with hoarseness, poor dentition, and skin lesions, and we discuss the management of this rare disease. Read More

View Article

Download full-text PDF

Source
January 2016
6 Reads

[One case of lipoid proteinosis].

Authors:
Wen Xu

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2016 Jan;51(1)

Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1673-0860.2016.01.003DOI Listing
January 2016
2 Reads

Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene.

J Dermatol 2016 Jul 18;43(7):804-7. Epub 2016 Jan 18.

Department of Dermatology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing, China.

Lipoid proteinosis is a rare recessive genetic disorder caused by loss-of-function mutations to chromosome 1 at 1q21, the extracellular matrix protein 1 (ECM1) gene. Two children with lipoid proteinosis were reported from two unrelated Chinese families, both manifesting with a typical hoarse voice, white acne-like atrophic lesions and scarring on the skin, and beaded papules around the eyelids. The diagnosis had been confirmed by laboratory tests, skin biopsy and laryngoscope examination. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.13261DOI Listing
July 2016
12 Reads

Ocular manifestations in lipoid proteinosis: A rare clinical entity.

Indian J Ophthalmol 2015 Oct;63(10):793-5

Department of Ophthalmology, Kasturba Medical College, Mangalore, Karnataka, India.

Lipoid proteinosis is a rare autosomal recessive genodermatosis with abnormal lipid protein complexes deposition in different parts of the body, especially in the skin and mucus membranes of the upper aerodigestive tract. Though ocular involvement in lipoid proteinosis is rare, ophthalmologists may encounter diverse ocular complications accompanying this syndrome in clinical practice. We describe a case of lipoid proteinosis involving bilateral eyelids with pathognomonic moniliform blepharosis in a 33-year-old gentleman who presented with the complaints of itching of eye lids on and off since 10 years. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0301-4738.171517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728981PMC
October 2015
2 Reads

Lipoid proteinosis: A rare entity.

Indian J Ophthalmol 2015 Aug;63(8):680-1

Department of Orbit, Oculoplasty, Reconstructive and Aesthetics, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India.

Urbach-Wiethe syndrome or lipoid proteinosis is a rare autosomal recessive disorder characterized histologically by infiltration of Periodic acid Schiff-positive hyaline material in the skin, upper aerodigestive tract, eyelids, and internal organs. Classical clinical features include scarring of the skin, beaded eyelid papules (moniliform blepharosis) and laryngeal infiltration leading to hoarseness of voice. Lipoid proteinosis can lead to life-threatening conditions such as acute respiratory distress and seizures. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0301-4738.169791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4687198PMC
August 2015
2 Reads

[Lipoid proteinosis (Urbach-Wiethe's Disease)].

Kulak Burun Bogaz Ihtis Derg 2015 ;25(6):357-60

Department of Pathology, Kayseri Training and Research Hospital, 38010 Kocasinan, Kayseri, Turkey.

A 25-year-old female patient was admitted to our outpatient clinic with postpartum hoarseness. Punch biopsy specimens obtained from the larynx and sublingual region revealed multi-folded squamous epithelium with a hyperkeratosis pattern and amorphous hyaline material aggregation. This aggregation was also remarkable around the vessels. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5606/kbbihtisas.2015.70962DOI Listing
June 2016
2 Reads

Lipoid proteinosis.

Authors:
John A Mcgrath

Handb Clin Neurol 2015 ;132:317-22

St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK. Electronic address:

Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in ECM1, encoding extracellular matrix protein 1, a glycoprotein expressed in many organs and which has important protein-protein interactions in tissue homeostasis. Although the disease usually presents clinically with warty infiltration of the skin and mucous membranes and a hoarse voice, neuropsychological and neuropsychiatric abnormalities are often prominent features. There may be bean- or comma-shaped intracranial calcifications, often selectively affecting the amygdala. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-444-62702-5.00023-8DOI Listing
August 2016
4 Reads