Results 51 to 60 of about 13,942 (231)

Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29

, 2011
Background: In 1967, Cross et al. [J Pediatr 1967; 70: 398-406] reported four siblings with intellectual disability, microcephaly, neurologic and ocular disorders, and hypopigmentation involving skin and hair.
Cogulu, O., Durmaz, B., Vermeesch, J. R., Özkınay, Ferda, Ozkinay, F., Chabchoub, Elyes, Vermeesch, Joris, Fryns, J. -P., Fryns, Jean-Pierre, Chabchoub, E.   +9 more
core   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome

, 2011
Angelman Syndrome (AS) is a neurogenetic disorder caused by the lack of functional ubiquitin-protein ligase E3A (UBE3A) that acts as an E3 ligase in the ubiquitin-proteosomal degradation pathway and/or as a transcriptional coactivator.
Ken-Shiung Chen, Low, Daren., Chen, Ken-Shiung., Daren Low   +3 more
core   +1 more source

Development of Gel-in-Oil Emulsions for Khellin Topical Delivery

Pharmaceutics, 2020
Hypopigmentation is a progressive dermatological condition caused by a reduction in the skin pigment, melanin. Its treatment is considered a challenge due to the lack of a highly efficient single therapy.
Joana Pereira, Rita Gonçalves, Margarida Barreto, Clarisse Dias, Fátima Carvalho, António J. Almeida, Helena Margarida Ribeiro, Joana Marto   +7 more
doaj   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Beyond the pale: Insights into hypopigmented mycosis fungoides – A case report [PDF]

Malaysian Family Physician
Hypopigmented mycosis fungoides (MF) is a rare variant of cutaneous T-cell lymphoma, a type of extranodal non-Hodgkin lymphoma. This report presents the case of a 9-year-old boy with a 2-year history of asymptomatic, hypopigmented skin lesions that were ...
Nur Zafirah Zauddin, Azwanis Abdul Hadi
doaj   +1 more source

A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome

Clinical Genetics, EarlyView.
We propose a phenotype‐based diagnostic framework for short telomere syndrome that integrates age‐adjusted telomere length, phenotypic manifestations, and genetic findings, where available. The framework is intended to guide clinical evaluation, longitudinal surveillance, and individualized management while acknowledging limitations in current telomere
Andrew Courtwright, Richard A. King, Jennie Vagher, Cate T. Levy, Juan Gallegos F. Orozco, Luis FZ Batista, Afaf Osman, Srinivas Tantavahi, Mary Beth Scholand   +8 more
wiley   +1 more source

Comparison of intradermal injection of autologous epidermal cell suspension vs. spraying of these cells on dermabraded surface of skin of patients with post-burn hypopigmentation

Indian Journal of Dermatology, 2013
Introduction: One of the most important complications after burning is hypo/depigmentation. This study was designed to compare two methods of cell spray and intradermal injection of epidermal cell suspension for treatment of burn induced hypopigmentation.
Ahrari Iman, Mohamadi Ali Akbar, Khosravi Maharlooei Mohsen, Farsi Ali, Attar Armin, Ahrari Sajjad, Monabati Ahmad, Mahsa Ghavipisheh, Rahnama Leila   +8 more
doaj   +1 more source

European Society of Contact Dermatitis Guideline for Diagnostic Patch Testing—Recommendations on Best Practice (Update 2026)

Contact Dermatitis, EarlyView.
ABSTRACT The present guideline updates the initial ESCD patch testing guideline, summarizing all aspects of patch testing for the diagnosis of contact allergy in patients suspected of suffering, or having been suffering, from allergic contact dermatitis or other delayed‐type hypersensitivity skin and mucosal conditions. Sections with brief descriptions
Wolfgang Uter, Olivier Aerts, Tove Agner, Richard Brans, Magnus Bruze, Alicia Cannavó, Marie‐Noёlle Crépy, Ana M. Giménez‐Arnau, Margarida Gonçalo, An Goossens, Swen M. John, Carola Lidén, Suzana Ljubojević Hadžavdić, Vera Mahler, Mihaly Matura, Esen Özkaya, Maria Pesonen, Nadia Raison‐Peyron, Thomas Rustemeyer, Radoslaw Spiewak, Luca Stingeni, Ian R. White, S. Mark Wilkinson, Jeanne Duus Johansen   +23 more
wiley   +1 more source