Results 41 to 50 of about 787 (149)

Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family

Diagnostic Pathology, 2011
Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood that is caused by homozygous or compound heterozygous mutations in the ECM1 gene located on chromosome ...
Naeem Muhammad, Qamar Reem, Ajmal Muhammad, Latif Amir, Nasir Muhammad, Hameed Abdul   +5 more
doaj   +1 more source

Characterization of Pulmonary Dysfunction in Systemic Juvenile Idiopathic Arthritis Using Xenon and Proton MRI

Pediatric Pulmonology, Volume 61, Issue 4, April 2026.
ABSTRACT Introduction Systemic juvenile idiopathic arthritis‐associated lung disease (SJIA‐LD) is increasingly recognized and associated with potentially life‐threatening complications. Diagnosis is challenging as SJIA‐LD is complex and frequently presents with subtle or no respiratory symptoms, necessitating CT imaging or other tests to detect budding
William J. Garrison, Matthew M. Willmering, Bilal I. Masokano, Shipra Rai, Antoinette Wannes Daou, David J. Roach, Esi M. Morgan, Jason C. Woods, Zackary I. Cleveland, Emrah Gecili, R. Paul Guillerman, Andrew H. Schapiro, Grant S. Schulert, Alexei A. Grom, Christopher T. Towe, Laura L. Walkup   +15 more
wiley   +1 more source

Significant but Temporary Efficacy of Statin for a Patient With Severe Autoimmune Pulmonary Alveolar Proteinosis: A Case Report

Respirology Case Reports, Volume 14, Issue 2, February 2026.
Evidence of the efficacy of statins in pulmonary alveolar proteinosis is limited and remains controversial. We report a case of severe autoimmune pulmonary alveolar proteinosis in a patient who underwent whole‐lung lavage therapy twice and achieved excellent response and remarkable clinical resolution of respiratory failure after the initiation of oral
Fumihiko Makino, Kohei Shibayama, Yuki Muto, Rie Hayakawa, Kenta Izumi, Yohei Suzuki, Osamu Nagashima, Shinichi Sasaki, Kazuhisa Takahashi   +8 more
wiley   +1 more source

Imaging Findings of Pediatric Rheumatic Disorders: JIA in the PRINTO Era and Autoimmune Interferonopathies

Pediatrics International, Volume 68, Issue 1, January/December 2026.
ABSTRACT Treatment strategies for pediatric rheumatic diseases have changed substantially over the past two decades, driven by the development of biologics and cytokine‐targeted molecular therapy. Therapeutic approaches that modulate both innate and adaptive immune responses have improved prognosis in these immune‐mediated disorders, and early ...
Yuko Tsujioka, Yoshitake Yamada, Gen Nishimura, Tatsuo Kono, Masahiro Jinzaki   +4 more
wiley   +1 more source

Doença de Urbach-Wiethe/proteinose lipoidica.

Acta Médica Portuguesa, 1998
The authors present a case of Urbach-Wiethe's disease (lipoid proteinosis), a rare autosomal recessive disorder, in a 49-year-old female patient with pathognomonic cranial radiological findings demonstrated by radiology and computed tomography.
R Maia, L Teixeira, J Drago
doaj   +1 more source

Lipoid Proteinosis; A Case Report with Difficult Intubation [PDF]

JLUMHS, 2018
Lipoid proteinosis is an autosomal recessive disorder and caused by the mutations of ECM1 (extracellular matrix protein 1) gene on chromosome 1q21.
Syed Aftab Haider , Atqua Sultan, Salman Waris, Aatir Fayyaz, Zaira Salman   +4 more
doaj   +1 more source

Molecular Investigation in Early‐Onset Interstitial Lung Disease: Results From 699 Unrelated Patients

Respirology, Volume 31, Issue 1, Page 53-61, January 2026.
ABSTRACT Background and Objective Interstitial lung diseases (ILDs) are rare and severe respiratory conditions that may ultimately result in pulmonary fibrosis (PF). The objective of this study was to present the results of molecular diagnosis of early‐onset ILD (from neonates to young adults < 50 years) in a reference genetic diagnostic laboratory ...
Camille Louvrier, Nadia Nathan, Vincent Cottin, Tifenn Desroziers, Valérie Nau, Yohan Soreze, Florence Dastot‐Le Moal, Philippe Reix, Diane Bouvry, Caroline Thumerelle, Martine Reynaud‐Gaubert, Alice Hadchouel, Grégoire Prévot, Effrosyni Manali, Caroline Kannengiesser, Ibrahima Ba, Serge Amselem, Véronique Houdouin, Raphaël Borie, Marie Legendre, on behalf of RespiRare and OrphaLung   +20 more
wiley   +1 more source

Moniliform blepharosis in lipoid proteinosis: A rare case

Indian Journal of Ophthalmology. Case Reports, 2023
Lipoid proteinosis (LP) is a rare multisystem disease characterized by the accumulation of amorphous hyaline-like materials in the skin, mucous membranes, and brain.
Fatma Sema Akkan Aydoğmuş
doaj   +1 more source

A Hereditary Pulmonary Alveolar Proteinosis Caused by a Novel Hemizygous Variation of the CSF2RA Gene Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.
This paper describe a 3‐year‐old girl with Turner syndrome who presented with recurrent cough and dyspnea and was diagnosed with hereditary PAP. Genetic analysis revealed a novel hemizygous mutation in the CSF2RA gene (NM_000402.4:c.200_204del, p.Asn67SerfsTer8), which was confirmed as a de novo pathogenic variant and had not been reported previously ...
Qiang Chen, Sufen Zhang, Xiaomin Zhu, Yaru Zhu, Jinyang Chen, Hongjun Chen, Gefei Xiao   +6 more
wiley   +1 more source

A Rare Case of Non-resolving Pneumonia: Lipoid Pneumonia

Haseki Tıp Bülteni, 2020
Lipoid pneumonia (LP) is defined as the sum of clinical and radiological abnormalities due to aspiration of oil based foreign materials. There are two kinds of LP defined in the literature.
Bilge Yılmaz Kara, Songül Özyurt, Yavuz Metin, Dilek Karadoğan, Ünal Şahin   +4 more
doaj   +1 more source