research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
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960-990 / 1000+ results research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research Rab5c-mediated endocytic trafficking regulates hematopoietic stem and progenitor cell development via Notch and AKT signaling
Rab5c is crucial for blood stem cell development by regulating Notch and AKT signals.
research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research A rare presentation of systemic lupus erythematosus associated with thymoma-induced multiorgan autoimmunity
A rare case of lupus linked to thymoma shows complex diagnosis and management challenges.
research 290 Brepocitinib improves cicatricial alopecia and downregulates key T-helper biomarkers
Brepocitinib improves cicatricial alopecia and reduces key immune markers.
research BH10 Granulomatous scarring alopecia associated with rheumatoid arthritis: a case report with distinct folliculocentric granulomas histologically mimicking granulomatous alopecia areata
A woman with rheumatoid arthritis had a unique type of scarring hair loss not caused by infection, requiring early treatment to avoid permanent hair loss.
research Molecular heterogeneity of quiescent melanocyte stem cells revealed by single‐cell RNA‐sequencing
Different types of resting melanocyte stem cells have unique characteristics and vary in their potential to become other cells.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research Management of a Refractory EIF3E-RSPO2 Fusion Positive Pilomatrical Cancer Patient with Encyclopedic Tumor Analysis Guided Treatment
Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research The features of onychomatrimas on in vivo reflectance confocal microscopy
Reflectance confocal microscopy can noninvasively diagnose onychomatricoma by showing unique features different from healthy nails or nail fungus.
research How to manage an 18-20 year old with hair loss that is not improved with ketoconazole?
Ritlecitinib may help young adults with severe alopecia areata when ketoconazole doesn't work.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research A Case of Trichoblastoma
A benign skin tumor was removed from a man's leg, and it didn't come back after 9 months.
research Dermatophytosis and papular eosinophilic/mastocytic dermatitis (urticaria pigmentosa-like dermatitis) in three Devon Rex cats
Devon Rex cats with skin issues were successfully treated with antifungal medication.
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps
Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
research Pathologic Quiz Case: A Cutaneous Nodule on the Left Temple
The nodule was a benign cutaneous lymphadenoma, not cancer, and was successfully removed.
research Long‐term safety and efficacy of ritlecitinib in adults and adolescents with alopecia areata and at least 25% scalp hair loss: Results from the ALLEGRO‐LT phase 3, open‐label study
Ritlecitinib is effective and safe for treating alopecia areata, promoting significant hair regrowth.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research A previously undescribed cutaneous paraneoplastic syndrome in a cat with thymoma
Thymoma in cats can cause hair loss without inflammation.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.