Lipoid Proteinosis of Urbach and Wiethe

Last update 08 May 2025

Basic Info

Synonyms

HYALINOSIS CUTIS ET MUCOSAE, Hyalinosis Cutis et Mucosae, Hyalinosis cutis et mucosae

+ [49]

Introduction

An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.

100 Clinical Results associated with Lipoid Proteinosis of Urbach and Wiethe

100 Translational Medicine associated with Lipoid Proteinosis of Urbach and Wiethe

0 Patents (Medical) associated with Lipoid Proteinosis of Urbach and Wiethe

569

Literatures (Medical) associated with Lipoid Proteinosis of Urbach and Wiethe

22 Apr 2025·Proceedings of the National Academy of Sciences

Steeper social discounting after human basolateral amygdala damage

Article

Author: Terburg, David ; van Honk, Jack ; Kalenscher, Tobias ; Lüpken, Luca M. ; Stoop, Ron

Translational research suggests that the basolateral part of the amygdala (BLA) computes some of the core processes underlying social preferences, but its precise role in prosocial choice remains unclear. We hypothesize that the human BLA is not necessary for prosocial behavior per se, but fine-tunes the degree of prosociality as a function of the social distance between actor and recipient of a prosocial act. We tested five participants with Urbach–Wiethe disease (UWD) who had isolated, bilateral damage to BLA and compared their behavior in a modified dictator game to that of 16 healthy control participants matched for (neuro-) psychological traits and cultural and socioeconomic background. In this game, participants selected eight people from their social environment and assigned them to variable social distance levels ranging from 1 (emotionally closest person) to 100 (random stranger on the street). They decided how much of a monetary endowment they would share with each person at each social distance. Compared to controls, UWD participants were less generous overall and showed steeper social discounting, that is, their willingness to share declined more sharply with increasing social distance. This difference in social discounting could not be explained by empathy, personality, or social network size. Our data suggest that BLA is critical for resolving the conflict between selfish and altruistic motives during social discounting. This finding underlines the BLA’s role in model-based social cognition, calibrating prosocial behavior based on the social-emotional distance between individuals.

01 Apr 2025·Journal of American Association for Pediatric Ophthalmology and Strabismus

Lipoid proteinosis, a rare cause of eyelid margin lesions

Article

Author: Ashby, Nathaniel ; Harter, Nicole ; Rychwalski, Paul J ; Jain, Samiksha Fouzdar ; Sinha, Shruti

Lipoid proteinosis is an extremely rare multisystemic disorder characterized by the deposition of collagenous hyaline-like material in various tissues, including the eyelid margins. We present the case of a 7-year-old boy who had twice undergone diagnostic laryngoscopy, bronchoscopy, and biopsy. This case emphasizes the role of ophthalmologists in detecting rare systemic disorders and the value of collaboration in optimizing patient care outcomes, particularly in the context of rare and complex medical conditions.

01 Mar 2025·Ear, Nose & Throat Journal

Lipoid Proteinosis of the Pharynx and Larynx: A Case Report

Article

Author: Luan, Jiangang ; Li, Zhuojun ; Yu, Guohua ; Lu, Guowei ; Sun, Di ; Chen, Xiumei ; Lai, Yongfeng ; Dong, Lei

Lipoid proteinosis (LP) is a rare inherited multisystem disease. Classical clinical features include beaded eyelid papules, laryngeal infiltration, and neurological symptoms. Here, we report the diagnosis and treatment of a female patient with LP in order to improve physician awareness and understanding of this disease.

Analysis

Perform a panoramic analysis of this field.

view full example data

Chat with Hiro

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

Lipoid Proteinosis of Urbach and Wiethe

Basic Info

Related

Analysis