scholarly journals Lipoid Proteinosis: A Rare Encounter in Dental Office

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Prasannasrinivas Deshpande ◽  
Mahima Veeranna Guledgud ◽  
Karthikeya Patil ◽  
Usha Hegde ◽  
Ankita Sahni ◽  
...  
Keyword(s):  
Progressive Disease ◽  
Oral Manifestations ◽  
Respiratory Obstruction ◽  
Internal Organs ◽  
Lipoid Proteinosis ◽  
Health Care Practitioners ◽  
Dental Office ◽  
Low Prevalence ◽  
Congenital Metabolic Disorder ◽  
Hyaline Material

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. We report a case of characteristic oral manifestations of lipoid proteinosis in a 28-year-old male patient along with a review of relevant prevailing literature.

scholarly journals Determination of the Carnitine and Acylcarnitine Profile in Patients with Lipoid Proteinosis

2019 ◽  
Author(s):  
Ataman Gönel ◽  
Ismail Koyuncu ◽  
Mustafa Aksoy ◽  
Hakim Celik
Keyword(s):  
Autosomal Recessive ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Serum Samples ◽  
Internal Organs ◽  
Lipoid Proteinosis ◽  
Acylcarnitine Profile ◽  
Mucous Membranes ◽  
Healthy Control

Background and objectives: Lipoid proteinosis (LP) is an autosomal recessive transfer lysosomal storage disease, characterised by the accumulation of hyalin substance in the mucous membranes, skin, internal organs and brain, for which there is no biochemical diagnostic method. The aim of this study was to determine the carnitine and acylcarnitine metabolic profile with LC-MS/MS in LP patients and thereby examine the potential of this as a new biochemical method in the determination of biochemical markers in LP patients. Materials and Methods: In this study, 27 carnitine and acylcarnitine esters were measured with LC-MS/MS in serum samples taken from 14 healthy control subjects and 14 patients who presented at the Skin and Venereal Diseases Polyclinic and were diagnosed with LP as a result of clinical, radiological and histopathological examinations. Results: The results of the study showed that C0 (free carnitine) C3, C4, C4:DC, C5DC, C6, C8, C14:1, C14:2, C16 and C18 acylcarnitines were statistically significantly reduced in the LP patients (p<0.05, p<0.01). Conclusions: It was concluded that the application of carnitine profile screening, which is an inexpensive, rapid and reliable method, could make a contribution to the differential diagnosis as aa supporting laboratory test in individuals with suspected LP.

Title – Oral manifestations of lipoid proteinosis – A rare clinical entity

2018 ◽  
Vol 30 (6) ◽  
pp. 562-565
Author(s):  
Sneha R. Sharma ◽  
Freny R. Karjodkar ◽  
Kaustubh P. Sansare ◽  
Mohd Saalim
Keyword(s):  
Clinical Entity ◽  
Oral Manifestations ◽  
Rare Clinical Entity ◽  
Lipoid Proteinosis

scholarly journals Oral manifestations of lipoid proteinosis: A case report and literature review

2013 ◽  
Vol 25 (2) ◽  
pp. 91-94 ◽  
Author(s):  
S.M. Ravi Prakash ◽  
Sankalp Verma ◽  
M.N. Sumalatha ◽  
Sayan Chattopadhyay
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Oral Manifestations ◽  
Lipoid Proteinosis

scholarly journals Manifestações orofaciais na síndrome de Munchausen - Revisão de literatura / Oral and maxillofacial manifestations in Munchausen Syndrome - Review of the literature

2020 ◽  
Vol 65 (1) ◽  
pp. 1
Author(s):  
Lorenzo Bernardi Berutti ◽  
Gustavo Souza Galvão ◽  
Rita de Cássia D'Ottaviano Nápole ◽  
Bruna Luiza Roim Varotto ◽  
Reynaldo Antequera
Keyword(s):  
Health Care ◽  
Temporomandibular Joint ◽  
Case Reports ◽  
Temporomandibular Joint Disorders ◽  
Oral Manifestations ◽  
Maxillofacial Injuries ◽  
Review Of The Literature ◽  
Munchausen Syndrome ◽  
Facial Injuries ◽  
Health Care Practitioners

Introdução: Pacientes com Síndrome de Munchausen (SM) simulam ou reproduzem lesões ou doenças com a intenção de assumir o papel de doente, sem o objetivo de ganho secundário. A familiarização dos profissionais da saúde com a SM e suas possíveis manifestações orofaciais pode impedir a realização de procedimentos desnecessários e tratamentos com insucessos consecutivos. Objetivo: Este estudo tem como objetivo identificar as manifestações orofaciais apresentadas por pacientes diagnosticados com a SM. Método: Foi realizada uma revisão de literatura pautada nos seguintes descritores: Síndrome de Munchausen, Boca, Face, Odontologia, Manifestações Bucais, Traumatismos Faciais e Traumatismos Maxilofaciais. Foram incluídos artigos nos idiomas inglês e português que discutem a SM e suas manifestações na região orofacial. A busca foi realizada nas bases de dados PubMed, LILACS, Embase e SciELO. Resultados e Conclusão: Foram incluídas 18 publicações que resultaram no relato de 22 casos de pacientes com manifestações orofaciais e diagnosticados com a SM. As manifestações orofaciais relatadas foram: dores orofaciais difusas ou mimetizando odontalgias; tumefação em face ou intraoral devido injeção de materiais ou ar nos tecidos; lesões ulceradas, bolhosas e sangrantes em mucosa oral; ulcerações, eritemas e equimoses em face; e disfunções da articulação temporomandibular (ATM) envolvendo múltiplas cirurgias e simulação de subluxação da ATM. Incentiva-se a publicação de relatos de caso para familiarizar o profissional da saúde com possíveis manifestações orofaciais em pacientes com a SM, contribuindo para realização de um correto diagnóstico e evitando a perpetuação do ciclo de assistência médica.Palavras Chave: Síndrome de Munchausen, Manifestações bucais, Traumatismos maxilofaciais, Traumatismos faciaisABSTRACTIntroduction: Patients with Munchausen Syndrome (MS) tend to simulate or reproduce an injury or illness with the intention of assuming a “sick role”, without the objective of a secondary gain. The habituation of health care practitioners with MS and its possible oral and maxillofacial manifestations may prevent unnecessary procedures and consecutive unsuccessful treatments. Objective: This study aimed to identify the oral and maxillofacial manifestations presented by patients diagnosed with MS. Methods: A review of the literature was carried out, based on the following descriptors: Munchausen Syndrome, Mouth, Face, Dentistry, Oral Manifestations, Facial Injuries and Maxillofacial Injuries. Publications in English and Portuguese related to MS and its oral and maxillofacial manifestations were included. The search was carried out using the following databases: PubMed, LILACS, Embase e SciELO. Results and Conclusion: 22 cases were assessed in 18 articles that reported patients presenting oral and maxillofacial manifestations and diagnosed with MS. The oral and maxillofacial presentations were: diffuse orofacial pain, occasionally similar to odontalgia; facial or intraoral swelling due to materials or pressurized air injections into the tissues; ulcerative, vesiculobullous and bleeding oral lesions; facial ulceration, erythema and ecchymosis; and temporomandibular joint disorders including multiple surgeries and simulation of subluxation of temporomandibular joint. Case reports must be performed in order to acquaint health care practitioners with possible oral and maxillofacial manifestations presented by patients diagnosed with MS, thus contributing to a correct diagnosis and preventing a cycle of repeated admissions to health care services. Keywords: Munchausen Syndrome, Oral manifestations, Maxillofacial injuries, Facial injuries

scholarly journals Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice

2013 ◽  
Vol 3 (2) ◽  
pp. 61-64
Author(s):  
Deepthi Koganti
Keyword(s):  
Oral Cavity ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Periodic Acid ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Internal Organs ◽  
Periodic Acid Schiff ◽  
Laryngeal Involvement ◽  
Hyaline Material

ABSTRACT Urbach-Wiethe disease is a rare, autosomal recessive disorder, characterized by infiltration of periodic acid-Schiff positive hyaline material into the skin, oral cavity, larynx and internal organs. The clinical manifestations include hoarseness of voice, beaded papules along the eyelid margins, skin scarring and an inability to protrude the enlarged and thickened tongue. Laryngeal involvement is typical and causes hoarseness of voice. In this paper, we present a case of a middle-aged female with clinical features suggestive of Urbach-Wiethe disease. This entity is of interest to the otolaryngologist as it is a rare cause of hoarseness of voice. How to cite this article Koganti D. Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice. Int J Phonosurg Laryngol 2013;3(2):61-64.

scholarly journals Oral health of children with asthma

2014 ◽  
Vol 26 (1) ◽  
Author(s):  
Nina Stephane Gusratylova Tarigan ◽  
Williyanti Soewondo ◽  
Jakobus Runkat
Keyword(s):  
Oral Health ◽  
Dental Hygiene ◽  
Sampling Technique ◽  
Dry Mouth ◽  
Oral Manifestations ◽  
High Prevalence ◽  
Survey Technique ◽  
Children With Asthma ◽  
The Mean ◽  
Low Prevalence

Introduction: Asthma is a chronic disease, most prevalent in children. Oral manifestations can be found in children with asthma such as dental caries and periodontal disease. The purpose of this research was to obtain  the condition of oral health children with asthma. Methods: The research was a descriptive and the survey technique. Subjects were taken using the Randome sampling technique. Subjects who are diagnosed with asthma are gathered from the Children Department, Pulmonary Hospital Dr.H.A Rotinsulu Bandung. The amount of 36 child with asthma will become the receasrch subjects. Data was obtained by clinical examination using def-t index, DMF-T index, the prevalence of caries, oral and dental hygiene status which also obtained by plaque index of PHP and prevalence of dry mouth. Results: def-t index was 3,38, DMF-T index was 0,30, the prevalence of caries was 80,6%. The mean of oral and dental hygiene status of child with asthma was 21 child (58,3%) making it mostly in a poor category and prevalence dry mouth was 91,7%.Conclusion: def-t index is medium, DMF-T index is very low, prevalence of caries is relatively high,and the mean of oral hygiene status has poor category, and also the relative high prevalence of dry mouth.

scholarly journals A Rare Cause of Hoarseness of Voice: Lipoid Proteinosis of the Larynx

2014 ◽  
Vol 4 (1) ◽  
pp. 23-26 ◽  
Author(s):  
Mahesh Chandra Sahu ◽  
Maitreyee Panda ◽  
Nibedita Patro
Keyword(s):  
Oral Mucosa ◽  
Autosomal Recessive ◽  
Periodic Acid ◽  
Autosomal Recessive Inheritance ◽  
Clinical Severity ◽  
Striated Muscles ◽  
Periodic Acid Schiff ◽  
Lipoid Proteinosis ◽  
The Central Nervous System ◽  
Hyaline Material

ABSTRACT Lipoid proteinosis (LP) is a rare genetic disease with autosomal recessive inheritance. It most often involves deposition of periodic acid Schiff positive hyaline material in skin, oral mucosa, larynx and other tissues. But it also involves the central nervous system, lungs, lymph nodes and striated muscles. Hoarseness, small papules on the eyelid border (moniliform blepharosis), enlarged tongue, waxy skin, and diffuse verrucous skin colored or yellowish papules and plaques on traumatized areas and oral mucosa are the most common features leading to the clinical diagnosis of LP. We present the case report of a 12-year-old boy with significant hoarseness, inability to protrude the tongue, beaded papules along the eyelid margins, and scarring of the skin. Of his two sisters, one had the same symptoms but with less clinical severity and the other had no features of LP. How to cite this article Swain SK, Panda M, Patro N, Sahu MC. A Rare Cause of Hoarseness of Voice: Lipoid Proteinosis of the Larynx. Int J Phonosurg Laryngol 2014;4(1):23-26.

scholarly journals Gastrointestinal Involvement in Lipoid Proteinosis: A Ten-Year Follow-Up of a Brazilian Female Patient

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Juliana Custódio Lima ◽  
Cristiane Kibune Nagasako ◽  
Ciro Garcia Montes ◽  
Irene Harumi Kamata Barcelos ◽  
Rita Barbosa de Carvalho ◽  
...  
Keyword(s):  
Female Patient ◽  
Autosomal Recessive ◽  
Skin Lesions ◽  
Gastrointestinal Involvement ◽  
Internal Organs ◽  
Radiologic Findings ◽  
Lipoid Proteinosis ◽  
Rare Autosomal Recessive Disease ◽  
Typical Skin

Lipoid proteinosis is a rare autosomal recessive disease characterized by the deposition of hyaline material in the skin and internal organs. The main clinical features are hoarseness and typical skin lesions. In this report we describe the endoscopic and radiologic findings in a Brazilian female patient presenting extensive gastrointestinal involvement and the evolution of the detected lesions in ten years of follow-up. Initial upper endoscopy and colonoscopy showed a similar pattern of multiple yellowish nodules throughout the esophagus, stomach, duodenum, and colons. Histological analysis confirmed the diagnosis of lipoid proteinosis. In addition, small bowel follow through demonstrated numerous well defined, round, small filling defects throughout the jejunum. Ten years later, the esophageal lesions remained the same, but none of the previous alterations were detected in the stomach, duodenum, and colons. In conclusion, lipoid proteinosis may affect all gastrointestinal organs with the same pattern of macroscopic and microscopic lesions. Some lesions may regress with increasing age.

scholarly journals Dental considerations on the management of Idiopathic Thrombocytopenic Purpura in children: case report

2015 ◽  
Vol 63 (4) ◽  
pp. 472-476
Author(s):  
Viviane Ferreira ROSSIER ◽  
Stella Maria Coda Pinto Alves Campos VIEIRA ◽  
Ana Lídia CIAMPONI ◽  
Renata de Oliveira GUARÉ
Keyword(s):  
Idiopathic Thrombocytopenic Purpura ◽  
Blood Platelets ◽  
Clinical Signs ◽  
Oral Manifestations ◽  
Hematological Disease ◽  
Thrombocytopenic Purpura ◽  
Adequate Treatment ◽  
Gingival Bleeding ◽  
Dental Office ◽  
Acute Itp

Idiopathic Thrombocytopenic Purpura (ITP) is a hematological disease characterized by decreased number of blood platelets. Clinically, children with ITP may present petechiae, ecchymoses, haematuria, epistaxis and occasionally hemorrhage. Oral manifestations include spontaneous gingival bleeding, petechiae or hematomas of the mucosa, palate and tongue. It is important for dentists to be aware of ITP in order to properly recognize this condition and offer the adequate treatment to the patient. The aim of this report was, therefore, to relate the case of a 4-year-old patient with acute ITP, to review its main clinical signs in children and describe the management of these patients at the dental office.

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