Results 41 to 50 of about 2,309 (169)

Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma [PDF]

Anais Brasileiros de Dermatologia, 2013
A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain ...
Fernanda Guedes Lavorato, Maria de Fátima Guimarães Scotelaro Alves, Juan Manuel Piñeiro Maceira, Natasha Unterstell, Laura Araújo Serpa, Luna Azulay-Abulafia   +5 more
doaj   +1 more source

Dermatologic Features of Endocrine Tumor Syndromes—Systematic Review and Meta‐Analysis

International Journal of Dermatology, Volume 65, Issue 3, Page 464-488, March 2026.
ABSTRACT Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development.
Sára Pálla, Zseraldin Metyovinyi, Fanni Adél Meznerics, Arash Mirzahosseini, Judit Tőke, Miklós Tóth, Henriett Butz, Attila Patócs, Márta Medvecz   +8 more
wiley   +1 more source

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims CMT1H is a rare, autosomal dominant, demyelinating subtype of CMT caused by variants in FBLN5. Symptomatic cranial nerve involvement has never been reported in patients with CMT1H. Case Report We report a 45‐year‐old woman with a history of long‐standing diplopia.
Georgios Koutsis, Zoi Kontogeorgiou, Charalampos Tzempetzis, Nikolaos Ragazos, Evgenia Efthymiou, Chrisoula Kartanou, Chrysoula Koniari, Nikolaos Giagkou, Klio Chatzistefanou, Georgios Velonakis, Georgia Karadima, Vasiliki Zouvelou   +11 more
wiley   +1 more source

Cutis laxa: A report of two interesting cases

Indian Journal of Dermatology, 2013
Cutis laxa is a rare disease that may be either inherited or acquired. The acquired form is rarer than the inherited form. Pathogenesis of this disease is largely unknown.
Subhabrata Mitra, Amit Kumar Agarwal, Jayanta Kumar Das, Asok Gangopadhyay   +3 more
doaj   +1 more source

Mounier‐Kuhn Syndrome Flare With Pleuritic Chest Pain: A Discussion of Complications and Management

Case Reports in Pulmonology, Volume 2026, Issue 1, 2026.
Background Mounier‐Kuhn syndrome (MKS), or tracheobronchomegaly, is a rare disorder characterized by dilation of the trachea and main bronchi due to atrophy of elastic and smooth muscle fibers. It is associated with recurrent respiratory infections, bronchiectasis, and airway collapse.
Geran Maule, Akil Augustus, Mohammad Khraisat, Jay Mehta, Elio Rodríguez Araque, Michael D. Schweitzer, Tun-Chieh Chen   +6 more
wiley   +1 more source

Anesthesia Management in Rare Case: Cutis Laxa Syndrome

Archives of Anesthesia and Critical Care, 2015
Cutis laxa is rare and hetrogenous group of disorders related to abnormalities in elastic tissue. It may be autosomal recessive, autosomal dominant, X linked or acquired.
Anahid Maleki, Alireza Ebrahim Soltani, Mehrdad Goudarzi, Amir Abbas Yaghooti, Abbas Ostad Alipour, Ebrahim Espahbodi   +5 more
doaj  

Removal of Toxic Metabolites—Chelation: Manganese Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Hendrik Vogt, George E. Kostakis, Rupert Purchase, John Spencer, Karin Tuschl   +4 more
wiley   +1 more source

Emerging Roles of De Novo Proline Biosynthesis in Human Diseases

FASEB BioAdvances, Volume 7, Issue 11, November 2025.
De novo proline synthesis, a multi‐step biochemical pathway starting from glutamate, supplies essential protein building blocks. It supports redox balance, cell proliferation, signal transduction, and nucleotide and protein biosynthesis. This tightly regulated pathway, governed by conserved mechanisms, is disrupted in diseases such as cancer and ...
Ethan Pei, Junfeng Ma
wiley   +1 more source

Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management

Frontiers in Cardiovascular Medicine, 2021
Aortic diseases requiring surgery in childhood are distinctive and rare. Very few reports in the literature account for the occurrence of multiple thoracic aortic aneurysms in the same pediatric patient because of a genetic cause.
Paul Thomas, Aparna Venugopalan, Siddharth Narayanan, Thomas Mathew, Lakshmi Parvathi Deepti Cherukuwada, Shilpa Chandran, Jithu Pradeep, Timothy P. Fitzgibbons, Vijo George   +8 more
doaj   +1 more source

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Acta Ophthalmologica, Volume 103, Issue 7, Page e436-e455, November 2025.
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs, Berith M. Balfoort, Marion M. Brands, Anneloor L. M. A. ten Asbroek, Camiel J. F. Boon, Roselie M. H. Diederen, Corrie Timmer, Margreet A. E. M. Wagenmakers, Hans R. Waterham, Ronald J. A. Wanders, Riekelt H. Houtkooper, Clara D. van Karnebeek, Arthur A. Bergen   +12 more
wiley   +1 more source