research Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
Search
for
Sort by
Research
420-450 / 1000+ results research The Efficacy of Platelet‐Rich Plasma in Facial Lichen Planus Pigmentosus: A Prospective Pilot Study
PRP treatment improved skin pigmentation and appearance in facial lichen planus pigmentosus.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research Inducible cre-mediated N-ras activation and PTEN inactivation in transgenic mouse melanocytes requires keratinocyte hyperplasia to elicit a melanocyte pathology
Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
research Folliculocentric papules and alopecia
A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
research Pityriasis rosea as a leading manifestation of COVID‐19 infection
research 1233 Exploring the role of melanocyte subpopulations in vitiligo
A specific group of early-stage melanocytes is reduced in vitiligo-affected skin, which may explain treatment resistance.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research [Genetic dissection of retinoic acid function in epidermis physiology].
Retinoic acid affects skin and hair health by working with specific receptors, and its absence can lead to hair loss and skin changes.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Case Report: Successful treatment of pediatric alopecia universalis with ritlecitinib after failure of baricitinib
Ritlecitinib successfully treated a child's alopecia universalis after baricitinib failed.
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Periocular pigmentation associated with use of travoprost for the treatment of alopecia areata of the eyelashes
Travoprost can help eyelash growth but may cause darkening around the eyes.
research The crosstalk between PTEN ‐induced kinase 1‐mediated mitophagy and the inflammasome in the pathogenesis of alopecia areata
Targeting mitophagy may help treat alopecia areata by reducing inflammasome activation.
research Lichen planus pigmentosus: a clinico‐pathological study in a Caucasian population from North Africa
Lichen planus pigmentosus mainly affects middle-aged women with darker skin, is underreported, and is hard to treat.
research Lichen planopilaris epidemiology: a retrospective study of 80 cases
Lichen planopilaris mostly affects women with fair skin and can look different on each person, needing early treatment to prevent hair loss.
research Psoriasis in the limelight: the remarkable career of an old skin disease
Tofacitinib may be an effective and safe treatment for adolescent alopecia areata.
research Ritlecitinib in severe alopecia areata: a profile of its use
Ritlecitinib effectively regrows hair in severe alopecia areata and is well tolerated.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Maintenance, withdrawal, and re-treatment with ritlecitinib and brepocitinib in patients with alopecia areata in a single-blind extension of a phase 2a randomized clinical trial
Continuous treatment with ritlecitinib and brepocitinib is needed to maintain hair regrowth in alopecia areata.
research An ophthalmological and electroretinographic study of patients taking canthaxanthin and beta-carotene
Long-term use of canthaxanthin may cause reversible changes in the eye, including crystal deposits and altered vision responses.