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    520 results match your criteria Lipoid Proteinosis

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    Lipoid proteinosis: A clinical and molecular study in Egyptian patients.
    Gene 2017 Jul 15. 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 Jul 7. Epub 2017 Jul 7.
    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 2017 Apr 1:1550059417705280. Epub 2017 Apr 1.
    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

    Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases.
    Clin Oral Investig 2016 Nov 29. 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 Aug 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

    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

    Lipoid proteinosis (Urbach-Wiethe disease) in two siblings.
    Indian Dermatol Online J 2014 Dec;5(Suppl 2):S95-7
    Department of Dentistry, Gujarat Medical Education and Research Society Medical College and Hospital, Dharpur, Patan, Gujarat, India.
    Lipoid proteinosis is a very rare autosomal recessive disorder characterized by deposition of hyaline material in the skin and the upper aerodigestive tract. Hoarseness of voice occurs very early in life and airway obstruction may occur. Characteristic skin lesions include multiple brown atrophic scars over face and distal extremities, beaded papules over the margins of the eyelids and verrucous nodules over the friction bearing areas (elbows, knees). Read More

    Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications.
    Radiol Case Rep 2015 17;10(2):1121. Epub 2016 Feb 17.
    Department of Radiology, Coimbatore Medical College Hospital, Coimbatore, India.
    Lipoid proteinosis is a rare, autosomal-recessive, genetic disorder characterized by multisystem involvement due to intracellular deposition of amorphous hyaline material. The disease is due to a mutation in the extracellular matrix of the protein 1 gene. The skin, mucosa, and central nervous system are commonly affected. Read More

    Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.
    Exp Dermatol 2015 Mar;24(3):220-2
    Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
    Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the ECM1 gene, and previous studies have noted phenotypic variability. In this study, we examined 12 patients representing three Iranian families for clinical manifestations and genotyped them for mutations in ECM1. LP was diagnosed with characteristic mucocutaneous and neurologic manifestations. Read More

    Temporal lobe epilepsy and emotion recognition without amygdala: a case study of Urbach-Wiethe disease and review of the literature.
    Epileptic Disord 2014 Dec;16(4):518-27
    IRCCS Institute of Neurological Sciences, Neurology Unit, Bellaria Hospital, Bologna, Danish Epilepsy Centre, Filadelfia/University of Copenhagen, Dianalund, Denmark.
    We describe the epilepsy features and emotion recognition abilities (recognition of basic facial emotions and recognition of emotional prosody) in a patient with Urbach-Wiethe disease with bilateral amygdala calcifications. Our data, supported by ictal video-EEG recording, indicated that our patient suffered from mesial temporal lobe epilepsy. Emotion recognition abilities were compared to those of healthy controls and those of patients with bilateral mesial temporal lobe epilepsy. Read More

    Structural focal temporal lobe seizures in a child with lipoproteinosis.
    Pediatr Neurol 2015 Jan 4;52(1):104-6. Epub 2014 Sep 4.
    Neurology Division, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
    Background: Lipoproteinosis is a rare autosomal recessive disorder caused by a mutation in a gene (ECM1) on chromosome 1q21. Alterations of membrane and vessels in the dermal-epidermal junction represent the pathologic background of the disease. Calcification in the temporal lobes and hippocampi are common and may be associated with epileptic seizures. Read More

    N-Glycosylation of extracellular matrix protein 1 (ECM1) regulates its secretion, which is unrelated to lipoid proteinosis.
    FEBS Open Bio 2014 12;4:879-85. Epub 2014 Oct 12.
    Department of Applied Chemistry, Faculty of Science and Technology, Keio University, Yokohama 223-8522, Japan.
    Extracellular matrix protein 1 (ECM1) is expressed in a wide variety of tissues and plays important roles in extracellular matrix formation. Additionally, ECM1 gene mutations cause lipoid proteinosis (LP), a rare skin condition of genetic origin. However, an effective therapeutic approach of LP is not established. Read More

    Impaired threat prioritisation after selective bilateral amygdala lesions.
    Cortex 2015 Feb 10;63:206-13. Epub 2014 Sep 10.
    Wellcome Trust Centre for Neuroimaging, University College London, UK.
    The amygdala is proposed to process threat-related information in non-human animals. In humans, empirical evidence from lesion studies has provided the strongest evidence for a role in emotional face recognition and social judgement. Here we use a face-in-the-crowd (FITC) task which in healthy control individuals reveals prioritised threat processing, evident in faster serial search for angry compared to happy target faces. Read More

    Urbach-Wiethe disease presenting with partial seizures, skin lesions and typical neuroimaging features.
    Clin Neurol Neurosurg 2014 Nov 8;126:169-70. Epub 2014 Sep 8.
    Division of General Neurology, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.

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