research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
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research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research Hypopigmented Mycosis Fungoides Treated with 308 nm Excimer Laser
A 308 nm excimer laser successfully treated a boy with a rare skin condition after about a year of weekly sessions.
research Integrative skin phenotypic and transcriptomic analyses reveal candidate genes for coat color and fiber length in four Chinese goat breeds (Capra hircus)
Genes linked to coat color and fiber length in Chinese goats were identified.
research Fibromodulin reduces scar formation in adult cutaneous wounds by eliciting a fetal-like phenotype
Fibromodulin treatment helps reduce scarring and improves wound healing by making it more like fetal healing.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Hyperpigmented Upper Eyelid: A Clue to the Diagnosis of Facial Lichen Planus Pigmentosus in a Patient with Frontal Fibrosing Alopecia
Upper eyelid hyperpigmentation can help diagnose facial lichen planus pigmentosus in patients with frontal fibrosing alopecia.
research Effects of gamma rays on the regeneration of murine hair follicles in the natural hair cycle
Gamma rays did not change hair follicle density but increased white and hypopigmented hairs in mice.
research Linear lichen planus pigmentosus of the face with histological findings of lichen planopilaris - an uncommon variant of lichen planus
A unique case showed a rare combination of two types of lichen planus on the face.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Obstetric and Gynecologic Dermatology
A pregnant woman's skin condition improved after giving birth, possibly due to high estrogen levels during pregnancy.
research LITERATURE REVIEW
Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
research Skin Semiology and Grading Scales
The document concludes that dermatology training and grading scales need to better represent dark-skinned individuals to improve diagnosis and assessment of skin conditions.
research Exposure to gamma-rays at the telogen phase of the hair cycle inhibits hair follicle regeneration at the anagen phase in mice
Gamma-rays exposure during the resting phase of hair growth can damage hair regeneration and color in mice.
research The effects of gamma rays on the regeneration of hair follicles are carried over to later hair cycles
Gamma-ray exposure can cause long-lasting damage to hair follicles, affecting hair structure and color.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research A Genome-Wide Association Study and Machine-Learning Algorithm Analysis on the Prediction of Facial Phenotypes by Genotypes in Korean Women
The model accurately predicts skin conditions in Korean women using genetic information, aiding personalized skincare.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Spectrum of Phenotypes Associated with Human MC1R Variations
MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Loss of epidermal Evi/Wls results in a phenotype resembling psoriasiform dermatitis
Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
research Topical niacinamide 4% and desonide 0.05% for treatment of axillary hyperpigmentation: a randomized, double-blind, placebo-controlled study
Desonide is more effective than niacinamide for reducing underarm darkening.
research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
research Changes in Characteristics of Murine Hair Follicles and Tissue Stem Cells Throughout Life
Mouse hair follicles age, causing more white hairs due to fewer pigment stem cells.
research Sarcoidosis: Are there differences in your skin of color patients?
Sarcoidosis is more common and severe in Black patients than in Caucasians, requiring early diagnosis and treatment.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.