We present four patients with lipoid proteinosis involving skin, oropharynx and larynx. [ncbi.nlm.nih.gov]

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. [ncbi.nlm.nih.gov]

KEYWORDS: ECM1 gene mutation; epilepsy; ictal EEG; lipoid proteinosis; prognosis [ncbi.nlm.nih.gov]

Prognosis is variable depending on the level of CNS dysfunction and involvement of other organs but can be normal. [radiopaedia.org]

The prognosis of lipoid proteinosis is generally good although, the disease is progressive until early adult life. [6] Almost every organ of the body is involved. [e-ijd.org]

Prognosis •Lipoid proteinosis has a stable or slowly progressive course •The presence of this disease is compatible with a normal life span unless altered by airway obstruction or fatal seizure activity •Mortality rates in infants and adults are slightly [slideshare.net]

Etiology and pathogenesis are unknown. Infantile hoarseness is a common presenting feature of the disease due to infiltration of larynx. In two-thirds of the cases, voice changes are present at birth or in early infancy as the first manifestation. [ncbi.nlm.nih.gov]

[…] founder mutation, Mol Syndromol 2016;7:26 ) Pathophysiology Uncertain ECM1 (extracellular matrix protein 1) is a component of the extracellular matrix and patients with LP lack functional ECM1 - this leads to hyaline deposits through an unknown mechanism Etiology [pathologyoutlines.com]

Etiology and Pathogenesis The molecular basis for hypermobility EDS is largely unclear. [plasticsurgerykey.com]

Patient Population: Prevalence and Epidemiology Knee // Shoulder & Elbow // Hip // Spine // Foot & Ankle // Hand & Wrist Fragility Fractures: Diagnosis and Treatment Shoulder & Elbow The Characteristics of Surgeons Performing Total Shoulder Arthroplasty [mdedge.com]

Miller is responsible for the strategic development and execution of research and testing in the areas of dermatotoxicology, clinical safety and efficacy studies, post-market surveillance studies, epidemiology studies, environmental studies (biodegradation [books.google.com]

[…] and lamina propria corresponding clinically to waxy yellowish white lesions Variable clinical presentation ( see clinical features below ) Autosomal recessive inheritance Terminology Also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease Epidemiology [pathologyoutlines.com]

Self-skin examination New smartphone apps to check your skin Learn more (Sponsored content) Related information References Lipoid Proteinosis: Background, Pathophysiology, Epidemiology. 2015 Jun 20 [cited 2015 Jul 26] Krafchik B, Lara-Corrales I. [dermnetnz.org]

Epidemiology Frequency More than 300 cases have been reported worldwide. [5] Incidence and prevalence figures are not available. [emedicine.com]

Loss of key protein-protein interactions may underscore some of the disease pathophysiology. There is currently no effective treatment for lipoid proteinosis and clinical care is largely supportive. 2015 Elsevier B.V. All rights reserved. [ncbi.nlm.nih.gov]

Patient details Age Adult Location Egypt Localisation Head / face / eyelid Description Beaded papules along the eyelid margin presenting with hoarseness, characteristic of lipoid proteinosis Primary Lesions papules beaded papules along the eyelid margins Pathophysiology [dermquest.com]

Loss of key protein-protein interactions may underscore some of the disease pathophysiology. There is currently no effective treatment for lipoid proteinosis and clinical care is largely supportive. [kclpure.kcl.ac.uk]

Journal of Indian Society of Pedodontics and Preventive Dentistry, Jan-Mar, 2011, 29(1). Van Hougenhouck-Tulleken W, Chan I, Hamada T, Thronton H, Jenkins T, McLean WHI, et al. [revista.acorl.org]

Avoiding and preventing injuries is of great importance. Assessment of the home environment with modifications to make homes “EDS safe,” such as avoiding hard, sharp edges on furniture and arrangement to prevent or minimize falls, can be helpful. [plasticsurgerykey.com]

Rare Brain Disorder Prevents All Fear 20. Curvilinear hyperattenuated horn-shaped lesions are well depicted by CT in the amygdaloid bodies On MR imaging, such lesions are hypointense in all pulse sequences, especially in GRE T2* weighted images 21. [slideshare.net]

The 2 most reliable signs of lipoid proteinosis are [3]: Hoarse voice, classically presenting as an infant with a faint or hoarse cry Thickened sublingual frenulum (a band of tissue), which prevents patients from protruding the tongue Further testing [dermnetnz.org]

Despite many therapeutic trials for LiP, treatment of this condition remains unsatisfactory and mainly aims at reducing morbidity and preventing complications. [jiaomr.in]