Results 41 to 50 of about 12,460 (193)

Shining Light on Autophagy in Skin Pigmentation and Pigmentary Disorders

open access: yesCells, 2022
Autophagy is a vital process for cell survival and it preserves homeostasis by recycling or disassembling unnecessary or dysfunctional cellular constituents.
Daniela Kovacs   +3 more
doaj   +1 more source

Dermoscopy of disorders of hypopigmentation

open access: yesPigment International, 2022
Dermoscopy has traditionally been used to diagnose neoplasms and, more recently, to evaluate inflammatory conditions. Recent observational studies have suggested a role for dermoscopy in identifying and differentiating various hypopigmentary disorders ...
Yasmeen Jabeen Bhat   +2 more
doaj   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni   +3 more
wiley   +1 more source

Identification of a Novel MLPH Missense Mutation in a Chinese Griscelli Syndrome 3 Patient

open access: yesFrontiers 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

Nail Lichen Planus in Children ‐ Epidemiology, Pathogenesis, Clinical Presentation, and Treatment

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Nail lichen planus (NLP) is a chronic inflammatory disorder that, while rare in children compared to adults, represents a significant cause of pediatric nail dystrophy that requires early recognition to prevent permanent scarring and nail loss.
Francesca Pampaloni, Matilde Iorizzo
wiley   +1 more source

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

open access: yesPediatric 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

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

Early Intervention Effects and Risk Factors for Residual Skin Changes in Infantile Hemangiomas

open access: yesThe Journal of Dermatology, EarlyView.
ABSTRACT Infantile hemangioma (IH) characteristically progresses through proliferative, involuting, and involuted phases, and typically undergoes spontaneous regression after the age of five. Therefore, the traditional management strategy has been based on a “wait‐and‐see policy”.
Kayoko Okuda   +4 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

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