research Inherited epidermolysis bullosa: clinical and therapeutic aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
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330-360 / 1000+ results research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research Differential Expression and Analysis of TBX3 Gene in Skin Tissues of Dun Mongolian Horses with and Without Bider Markings
TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
research Hairless protein of Jumonji family and hair loss
Mutations in the hairless protein gene cause hair loss.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Characterization of a mouse Scube3 reporter line
Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research An mTurq2-Col4a1 mouse model allows for live visualization of mammalian basement membrane development
The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Isotretinoin으로 치료한 농양성 천굴성 두부모낭주위염
Isotretinoin treatment improved scalp condition and stopped hair loss.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Upadacitinib for the treatment of alopecia areata and severe atopic dermatitis in a paediatric patient: A case report
Upadacitinib successfully treated a child's severe skin and hair loss issues.
research LB918 Analysis of National Inpatient Sample to characterize admissions for pediatric patients with dystrophic epidermolysis bullosa
Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
research Secondary Neoplasm Arising in Nevus Sebaceus of Jadassohn: A Case Report Emphasizing Early Recognition and Evaluation
Early recognition and evaluation of nevus sebaceus are crucial to detect and manage potential cancerous changes.
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 Dual aspects of B cells in tumor immunity; B cells are capable of positive and negative regulation for tumor immunity against B16 melanoma
B cells can both help and hinder the body's defense against melanoma.
research Endocrine and metabolic comorbidities in juvenile-onset systemic lupus erythematosus
JSLE patients often have more hormone and metabolism issues, so regular check-ups and preventing obesity can help.
research JAMA Dermatology—The Year in Review, 2021
In 2021, JAMA Dermatology published significant findings on skin conditions post-COVID vaccination, melanoma surveillance, atopic dermatitis treatments, and confirmed that sun protection does not harm bone health.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
research Epidermolysis Bullosa in Calves in the United Kingdom
Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
research 532 Unexpected expression of hemoglobin α as an endogenous antioxidant in epidermal keratinocytes
Hemoglobin α acts as an antioxidant in skin cells, especially protecting hair follicle stem cells from UV damage.
research Side gland of Suncus murinus as a new model of sebaceous gland: 5?-reductase, androgen receptor, and nuclear androgen content in male and female animals
The side gland of Suncus murinus is a good model for studying human sebaceous glands.
research 44180 Influence of Baseline Disease Severity Defined by Investigator’s Global Assessment on Abrocitinib Efficacy for up to 96 Weeks in Patients With Moderate-to-Severe Atopic Dermatitis: Interim Analysis of JADE EXTEND, a Long-Term Extension Study
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research 26143 Time to scalp hair, eyebrow, and eyelash improvement in patients with alopecia areata treated with baricitinib in the phase 2 portion of the phase 2/3 BRAVE-AA1 study
Baricitinib helped improve hair, eyebrow, and eyelash growth in alopecia areata patients.