Results 71 to 80 of about 8,285 (255)

World Association for Veterinary Dermatology Consensus Statement for Diagnosis, and Evidence‐Based Clinical Practice Guidelines for Treatment and Prevention of Canine Leishmaniosis

Veterinary Dermatology, Volume 36, Issue 6, Page 723-787, December 2025.
Hyperkeratosis of (a) the footpads and (b) the nasal planum. ABSTRACT Background Canine leishmaniosis (CanL) due to Leishmania infantum remains common, and veterinarians do not always follow scientifically sound approaches for diagnosis, treatment and prevention. Objectives To provide consensus guidelines for diagnosis and evidence‐based guidelines for
Manolis N. Saridomichelakis, Gad Baneth, Silvia Colombo, Filipe Dantas‐Torres, Lluís Ferrer, Alessandra Fondati, Guadalupe Miró, Laura Ordeix, Domenico Otranto, Chiara Noli   +9 more
wiley   +1 more source

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation [PDF]

, 2016
BACKGROUND: Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.
Bygum, Anette, Clemmensen, Ole, Gjørup, Hans, Hertz, Jens Michael, Krøigård, Anne Bruun   +4 more
core   +2 more sources

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis [PDF]

, 2016
Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program.
Adase, Christopher A, Adir, Noam, Ast, Gil, Bochner, Ron, Campbell, Linda E., Erez, Noam, Fainberg, Gilad, Gallo, Richard L., Gat, Andrea, Goldberg, Ilan, Gottlieb, Yehonatan, Isakov, Ofer, Li, Qiaoli, MacCallum, Stephanie, Malchin, Natalia, McLean, W. H. Irwin, Pavlovsky, Mor, Peled, Alon, Rogers, Tova, Samuelov, Liat, Sandilands, Aileen, Sarig, Ofer, Shayevitch, Ronna, Shomron, Noam, Sprecher, Eli, Uitto, Jouni, Vodo, Dan, Warshauer, Emily, Yu, Benjamin D.   +28 more
core   +2 more sources

Glucagonoma and Glucagonoma Syndrome: An Updated Review

Clinical Endocrinology, Volume 103, Issue 4, Page 417-426, October 2025.
ABSTRACT Background Glucagonoma is a rare well‐differentiated slowly proliferating pancreatic neuroendocrine tumour, characterized by several manifestations including necrolytic migratory erythema, weight loss, diabetes and anaemia. Aim The purpose of the current review was to acknowledge literature about this rare tumour discerning the clinical ...
Sofia Anelli, Rossella Mazzilli, Virginia Zamponi, Beatrice Giorgini, Bianca Golisano, Camilla Mancini, Flaminia Russo, Francesco Panzuto, Antongiulio Faggiano   +8 more
wiley   +1 more source

Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants.

JAMA dermatology, 2020
This nonrandomized clinical trial evaluates the association of topical minoxidil with hypotrichosis in patients with autosomal recessive woolly hair/hypotrichosis carrying LIPH pathogenic variants.
T. Taki, K. Tanahashi, T. Takeichi, T. Yoshikawa, Y. Murase, K. Sugiura, M. Akiyama   +6 more
semanticscholar   +1 more source

A case of Hallermann-Streiff-Francois syndrome : an ophthalmological perspective [PDF]

, 2017
Hallermann-Streiff-François syndrome is a rare condition which offers multidisciplinary diagnostic and therapeutic challenges. The difficulty in dealing with these cases is compounded by the presentation at a very young age.
Vassallo, James
core  

Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barrett, Jeff, Barroso, Inês, Chen, Jian Hua, Durbin, Richard, Farooqi, Sadaf, Fitzpatrick, David, Geschwind, Daniel, Huang Doran, Isabel, Hurles, Matt, Kaye, Jane, Keane, Thomas, Kennedy, Karen, Langford, Cordelia, Mccarthy, Shane, Muddyman, Dawn, Owen, Michael, O’Rahilly, Stephen, Palotie, Aarno, Payne, Felicity, Richards, Bren, Savage, David B., SEGNI, Maria, Semple, Robert K., Sleigh, Alison, Soranzo, Nicole, Spector, Tim, Stalker, Jim, Timpson, Nic, Zeggini, Eleftheria   +29 more
core   +3 more sources

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Hereditary Trichodysplasia: Marie Unna'S Hypotrichosis

Journal of Investigative Dermatology, 1971
This is a study of eight members of one family with Marie Unna hypotrichosis occurring in five generations. All affected individuals were born with widespread facial “milia”, sparse scalp hair and decreased body hair. Laboratory studies including urinary amino acids and plasma testosterone were normal.
Solomon, Lawrence M, Esterly, Nancy B, Medenica, Maria   +2 more
openaire   +2 more sources