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    531 results match your criteria Lipoid Proteinosis

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    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

    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

    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 Feb 14. 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

    [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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    [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

    Lipoid proteinosis.
    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

    Vocal fold hyalinosis in Urbach-Wiethe disease, a rare cause of hoarseness.
    B-ENT 2015 ;11(2):151-5
    Background: Lipoid proteinosis is an autosomal recessive disorder characterized by hyalin deposits in the skin and mucosa of the upper aerodigestive tract; currently, no treatment exists. Nearly all patients experience hoarseness and speech difficulties, due to hyalin deposition in the vocal folds and diminished mobility in infiltrated lips, tongue, and palate.

    Methods: We describe a patient with extensive hyalin plaques on the vocal folds, which resulted in near-aphonic hoarseness. Read More

    An Enhanced Default Approach Bias Following Amygdala Lesions in Humans.
    Psychol Sci 2015 Oct 3;26(10):1543-55. Epub 2015 Sep 3.
    California Institute of Technology.
    Approach and avoidance constitute a basic dimension of all animal behavior. Although a large number of studies have investigated approach and avoidance elicited by specific sensory stimuli, comparatively little is known about default approach biases when stimulus information is absent or reduced. The amygdala is well known to contribute to approach and avoidance behaviors in response to specific sensory stimuli; we tested whether the amygdala's role might extend to situations in which stimulus information is reduced. Read More

    Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report.
    J Oral Maxillofac Surg 2015 Oct 8;73(10):1962.e1-5. Epub 2015 Jul 8.
    Resident, Dental Surgery Clinic, Children's Memorial Health Institute, Warsaw, Poland.
    Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder caused by a mutation in the ANTXR2 gene encoding a transmembranous protein involved in endothelial development. The ANTXR2 (also known as CMG2) locus is on chromosome 4q21. ISH is a common disorder in children of consanguineous parents in Arab countries. Read More

    Lipoid proteinosis: A review with two case reports.
    Contemp Clin Dent 2015 Apr-Jun;6(2):233-6
    Department of Oral Medicine and Radiology, Manipal College of Dental Sciences, Manipal University, Manipal, Karnataka, India.
    Lipoid proteinosis (LP) is a rare autosomal recessive genodermatoses characterized by deposition of amorphous hyaline material in different parts of the body, especially the skin, mucous membranes of the upper aerodigestive tract, and internal organs. Oral cavity is most extensively affected area by the disease. This paper reports two classic cases of LP with oral manifestations but without a history of consanguinity along with a concise review of the literature on the disease. Read More

    Treatment of lipoid proteinosis with ablative Er:YAG laser resurfacing.
    Dermatol Ther 2015 Sep-Oct;28(5):291-5. Epub 2015 Jun 2.
    Dermatology Department, Gulhane School of Medicine.
    Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by deposition of amorphous hyaline material in different parts of the body, especially the skin and mucous membranes. Disfiguring lesions predominantly affect facial appearance. There is no curative therapy and treatment options are limited to symptomatic approaches. Read More

    Lipoid proteinosis: a rare encounter in dental office.
    Case Rep Dent 2015 19;2015:670369. Epub 2015 Mar 19.
    Department of Oral Pathology and Microbiology, JSS Dental College and Hospital, JSS University, Mysore, Karnataka 570015, India.
    Lipoid proteinosis is a sporadic congenital metabolic disorder which is characterized by deposition of hyaline material in dermis, submucosal connective tissue, and various internal organs. It has an extremely low prevalence rate with less than 300 cases reported so far. This progressive disease has a vast spectrum of manifestations ranging from asymptomatic lesions to fatal seizures and respiratory obstruction making timely diagnosis of this rare disorder an imperative task for oral health care practitioners. Read More

    Assessing allele-specific expression across multiple tissues from RNA-seq read data.
    Bioinformatics 2015 Aug 27;31(15):2497-504. Epub 2015 Mar 27.
    Wellcome Trust Centre for Human Genetics and.
    Motivation: RNA sequencing enables allele-specific expression (ASE) studies that complement standard genotype expression studies for common variants and, importantly, also allow measuring the regulatory impact of rare variants. The Genotype-Tissue Expression (GTEx) project is collecting RNA-seq data on multiple tissues of a same set of individuals and novel methods are required for the analysis of these data.

    Results: We present a statistical method to compare different patterns of ASE across tissues and to classify genetic variants according to their impact on the tissue-wide expression profile. Read More

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