Results 41 to 50 of about 836 (156)
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
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 +20 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 +4 more
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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 +4 more
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Canadian Respiratory Journal, Volume 2026, Issue 1, 2026.Introduction Neonatal lung biopsy guides management of unusually severe, diffuse lung disease with an uncertain diagnosis. Childhood interstitial lung disease (chILD) constitutes a diverse group of uncommon respiratory diseases which are associated with major morbidity and mortality.
Pierre Goussard +9 more
wiley +1 more source
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 +6 more
wiley +1 more source
Skin‐Colored Papules on the Face and Chest of a Female Patient
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Scleromyxedema is an unpredictable but progressive disease and can be lethal due to systemic involvement if not diagnosed timely. Hence, we require a keen observational clinical eye to diagnose the condition from its differentials, along with further research into treatment modalities to treat this condition.
Mehdi Ghahartars +3 more
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Lipoid Proteinosis: Case Report and Review Literature
Siriraj Medical Journal, 2014 Lipoid proteinosis is a rare autosomal recessive deposition disorder due to mutation in the extracellular matrix protein 1 gene. Until now, there were only 300 cases reported in literature. Moreover, case reports in Thailand are limited.
Charussri Leeyaphan
doaj
Lipoid proteinosis: A case report
Journal of Dr. NTR University of Health Sciences, 2017 Lipoid proteinosis is a rare disorder, with only 300 cases reported in the medical literature. It is inherited as an autosomal recessive trait, characterized by the deposition of a hyaline material in the dermis and submucosal connective tissues ...
Ramakrishnan Bharathi +3 more
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The Paradox of Metachronous Lipoid Pneumonia
Respirology Case Reports, Volume 13, Issue 9, September 2025.This is a case of recurrent exogenous lipoid pneumonia in a single patient caused by multiple unrelated substances. This case underscores the diagnostic value of radiologic patterns, the significance of meticulous exposure history, and the necessity of contemplating alternative aetiologies in patients with new infiltrates during cancer therapy ...
Haruki Kobayashi
wiley +1 more source