Results 51 to 60 of about 836 (156)

Lipoid proteinosis in two siblings

Indian Journal of Dermatology, 2006
Lipoid proteinosis denotes a rare autosomal recessive disorder. We report here lipoid proteinosis in a 31-year-old unmarried female along with her sibling.
Behera Samira Kumar, Nayak Surajit, Debi Basanti, Sahu Antaryami, Mishra Debiprasad   +4 more
doaj  

Macrophages: Subtypes, Distribution, Polarization, Immunomodulatory Functions, and Therapeutics

MedComm, Volume 6, Issue 8, August 2025.
Macrophages originate from the yolk sac, fetal liver, and bone marrow, differentiating into two main subtypes: M1‐like (proinflammatory) and M2‐like (anti‐inflammatory). These subtypes exhibit high plasticity, allowing them to transform in response to environmental cues or therapeutic interventions.
Mengyuan Peng, Niannian Li, Hongbo Wang, Yaxu Li, Hui Liu, Yanhua Luo, Bao Lang, Weihang Zhang, Shilong Li, Liujun Tian, Bin Liu   +10 more
wiley   +1 more source

Clinicopathological Challenge: Five Males Presenting With Progressive Skin Thickening and Hoarse Voices

International Journal of Dermatology, Volume 64, Issue 7, Page 1161-1163, July 2025.
ABSTRACT Five male patients, including four siblings and one unrelated child, presented with progressive hoarseness, waxy eyelid papules, mucosal thickening, and skin plaques. Histopathologic analysis revealed PAS‐positive perivascular hyaline deposition, and genetic testing confirmed a homozygous ECM1 mutation in all patients, consistent with lipoid ...
R. Maxwell Regester, Molly Antonson, Nicole N. Harter   +2 more
wiley   +1 more source

The Novel Use of Daratumumab in the Treatment of Refractory Autoimmune Pulmonary Alveolar Proteinosis

Respirology Case Reports, Volume 13, Issue 6, June 2025.
We present a case of refractory autoimmune pulmonary alveolar proteinosis (aPAP) successfully treated with Daratumumab, a novel CD‐38 monoclonal antibody (mAb). ABSTRACT Autoimmune pulmonary alveolar proteinosis (aPAP) is caused by circulating anti‐granulocyte‐macrophage colony‐stimulating factor (GM‐CSF) auto‐antibodies that impair alveolar macrophage
April Strong, Ying Sun, David Pilcher, Zane Kaplan, Rob G. Stirling   +4 more
wiley   +1 more source

Evaluating the Use of iPSC‐Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease

Pediatric Pulmonology, Volume 60, Issue 5, May 2025.
ABSTRACT Rationale Genetic testing has significantly improved the diagnosis of childhood interstitial lung diseases (chILD), which have long challenged clinicians due to their heterogeneity and poor characterization. It is now imperative to study variants of unknown significance (VUS) to identify pathogenic mutations to optimize diagnosis and screening
Swetha Jinson, Shivanthan Shanthikumar, Rhiannon B. Werder   +2 more
wiley   +1 more source

Bilateral selective amygdala calcifications: lipoid proteinosis

Journal of the Belgian Society of Radiology, 2013
A 14-year-old boy presented with progressive skin and mucous membrane changes including multipl papules on the eyelid margins. His parents also noted hoarseness since early childhood. His rashes emerged first when he was 1-month-old and healed by leaving
C Yilmaz, B Gulek, E Çenesizoglu, Ö Kaya, G Söker, A Hursit Ispir   +5 more
doaj   +1 more source

Lipoid proteinosis: A rare congenital genodermatosis

Journal of Dr. NTR University of Health Sciences, 2017
Lipoid proteinosis or Urbach–Wiethe disease is a very rare autosomal recessive disease. The term was first coined by Urbach. This disorder is characterized by intercellular deposition of periodic-acid Schiff-positive amorphous hyaline material in the ...
Mitali Madhumita Rath, Pranita Mohanty
doaj   +1 more source

Periodic Table of Immunomodulatory Elements and Derived Two‐Dimensional Biomaterials

Advanced Science, Volume 12, Issue 6, February 10, 2025.
Two‐dimensional (2D) nanomaterials, possessing unique physiochemical properties, revolutionize the field of biomedical engineering to address critical diagnostic and therapeutic challenges. This review unveils the periodic table of 2D immunomodulatory elements, assessing synthesis, properties, immunomodulatory mechanisms and biocompatibility.
Alireza Rafieerad, Leena Regi Saleth, Soofia Khanahmadi, Ahmad Amiri, Keshav Narayan Alagarsamy, Sanjiv Dhingra   +5 more
wiley   +1 more source

Lipoid Proteinosis Beyond the Skin: Unmasking its Oral Presentation

Journal of Multidisciplinary Dental Research
Lipoid proteinosis (LP) is a rare congenital disorder marked by hyaline material accumulation in various organs, with only about 400 cases reported.
Abrielle K Lamphere
doaj   +1 more source

Acitretin Treatment for Lipoid Proteinosis

Case Reports in Dermatological Medicine, 2012
Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas.
Özgür Gündüz, Neriman Şahiner, Pınar Atasoy, Çağrı Şenyücel   +3 more
doaj   +1 more source