Results 61 to 70 of about 19,181 (266)

The Efficacy of Triamcinolone Acetonide in Keloid Treatment: A Systematic Review and Meta-analysis [PDF]

open access: yes, 2016
published_or_final_versio
Chan, YW   +4 more
core   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

open access: yesActa 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

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation

open access: yesCell 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

open access: yesPharmaceutics, 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

A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies

open access: yesCells, 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

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

open access: yesActa 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 the pale: Insights into hypopigmented mycosis fungoides – A case report [PDF]

open access: yesMalaysian 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

Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome) [PDF]

open access: yes, 1984
Schmidt syndrome (PGA syndrome type II) is a rare condition characterized by polyglandular failure. It is an autosomal dominant trait with variable expressivity that was inherited over four generations in an Indiana kindred.
Biegel, Angenieta A.   +4 more
core   +2 more sources

National Delphi consensus on laser and energy‐based treatments for rosacea

open access: yesJDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background Various treatments are available for rosacea, including lasers and energy‐based devices (EBDs). However, the specific role of lasers and EBDs in rosacea management remains insufficiently defined in Germany. The aim of the study was to develop a comprehensive expert consensus on the use of lasers and EBDs in the treatment of rosacea ...
Lynhda Nguyen   +16 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

open access: yesIndian 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

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