Results 31 to 40 of about 12,006 (128)
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 +2 more
wiley +1 more source
Identification of a Novel MLPH Missense Mutation in a Chinese Griscelli Syndrome 3 Patient
Frontiers in Medicine, 2022 Melanophilin (MLPH) functions as a linker between RAB27A and myosin Va (MYO5A) in regulating skin pigmentation during the melanosome transport process.
Qiaorong Huang +16 more
doaj +1 more source
Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care
Acta Ophthalmologica, EarlyView.Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano +26 more
wiley +1 more source
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, EarlyView.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation
Cell Reports, 2016 Reduced ocular pigmentation is common in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) and is long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3, and OCA2.
Ryan J. Delahanty +9 more
doaj +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 +7 more
doaj +1 more source
Cells, 2021 Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) and a platelet function disorder of varying severity as its most prominent features.
Doris Boeckelmann +5 more
doaj +1 more source
Cosmetic Adverse Reactions and Prognostic Factors: A Retrospective Cohort Study in Wuhan, China
Contact Dermatitis, EarlyView.This study reveals that being under 20 or having a history of allergies significantly increases the risk of long‐term symptoms after a cosmetic adverse reaction. These findings help dermatologists identify high‐risk patients for proactive management and tailored preventive strategies.
Ayan Hasen +4 more
wiley +1 more source
Beyond the pale: Insights into hypopigmented mycosis fungoides – A case report [PDF]
Malaysian Family PhysicianHypopigmented 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
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 +8 more
doaj +1 more source