research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
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510-540 / 1000+ resultsresearch Real-world assessment of ritlecitinib in patients with severe alopecia areata: a 24-week multicentre retrospective study
Ritlecitinib may be more effective for severe alopecia areata than conventional treatments.
research Systemic lupus erythematosus as a rare cause of hypercalcemia: A case report
Lupus can be a rare cause of high calcium levels in the blood.
research Lipedematous alopecia, an entity on the rise
A 59-year-old woman was diagnosed with a rare hair loss condition called lipedematous alopecia.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research Characterizing Disease Features and Other Medical Diagnoses in Patients With Pityriasis Rubra Pilaris
PRP patients show varied symptoms and need more research to understand related conditions.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research A Patient Preference-Weighted Quantitative Benefit-Risk Analysis of Ritlecitinib for Alopecia Areata to Inform Medical Decision Making
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Extrapulmonary disorders associated with Rhodococcus equi infection in foals: 150 cases (1987–2007)
Foals with Rhodococcus equi infection often have other health problems that lower their chances of survival.
research A novel calmodulin‐interacting Domain of Unknown Function 506 protein represses root hair elongation in Arabidopsis
The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
research Polythelia pilosa: A Particular Form of Accessory Mammary Tissue
Polythelia pilosa is a type of extra breast tissue with hair and should be classified as such.
research Granulomatous Alopecia Areata: A Rare Report With a Review
Granulomatous Alopecia Areata is rare and may be caused by hair antigens or follicle destruction.
research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research From rare hypertrichosis to common alopecia: new pathways for hair regeneration
research Case Report: Rare aplastic anemia in pediatric systemic lupus erythematosus: a case series and systematic literature review
Early detection and infection prevention are crucial for improving survival in pediatric lupus patients with aplastic anemia.
research A case of temporal triangular alopecia
A 3-year-old boy was diagnosed with a rare, non-scarring hair loss condition called temporal triangular alopecia.
research Melanotrichoblastoma: A Histopathological Case Report of a Rare Pigmented Variant of Trichoblastoma
A rare pigmented skin tumor called melanotrichoblastoma was diagnosed in a 51-year-old woman.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
research Eyebrow alopecia: centrofacial trichoblastomatosis
Recognizing eyebrow hair loss linked to a rare skin condition is crucial for proper treatment.
research Severe, Disfiguring, Pityriasis Rubra Pilaris in a Woman in the Dominican Republic
A woman with HIV had a severe skin condition that improved with antiretroviral therapy.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research Ichthyosis with confetti: a rare diagnosis and treatment plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research ERULUS Is a Plasma Membrane-Localized Receptor-Like Kinase That Specifies Root Hair Growth by Maintaining Tip-Focused Cytoplasmic Calcium Oscillations
ERULUS is crucial for root hair growth by controlling calcium levels.
research Alopecia Areata Incognita: A Case Report
Alopecia Areata Incognita causes sudden hair loss in young females but usually has a better outcome than other types.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.