Ultrasound-Guided Lateral Femoral Cutaneous Nerve Cryoneurolysis for Analgesia in Patients With Burns. [PDF]
, 2020 Autologous skin grafting from the thigh is frequently required for treatment of burns and is associated with intense pain at the donor site. Local anesthetic-based (LA) nerve blocks of the lateral femoral cutaneous nerve (LFCN) have been demonstrated to ...
Fiallo, Alfredo +6 more
core
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
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]
, 2016 PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G +7 more
core
Hypopigmented macules of the limbs in two sisters: Report on familial bier spots [PDF]
, 2015 Bier spots are asymptomatic, small, irregular, hypopigmented macules characterized by a normal histological appearance, which are usually found on the arms and legs of young adults.
Errichetti, Enzo +2 more
core +3 more sources
Facial hypopigmentation as an unusual manifestation of Demodex infestation – a case series [PDF]
, 2023 Roie Holzman +7 more
openalex +1 more source
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
Mechanistic studies of anti-hyperpigmentary compounds: elucidating their inhibitory and regulatory actions. [PDF]
, 2014 Searching for depigmenting agents from natural sources has become a new direction in the cosmetic industry as natural products are generally perceived as relatively safer.
Cheng, CH +3 more
core +2 more sources
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
Laser Treatment of Hypopigmentation in Scars: A Review [PDF]
, 2021 Erica G. Baugh +2 more
openalex +1 more source