research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
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research Decades of progressive red and yellow nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research The Function of LPR1 is Controlled by an Element in the Promoter and is Independent of SUMO E3 Ligase SIZ1 in Response to Low Pi Stress in Arabidopsis thaliana
LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Accurate quantification of minimal residual disease at day 15, by real-time quantitative polymerase chain reaction identifies also patients with B-precursor acute lymphoblastic leukemia at high risk for relapse
Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.
research Intermittent Low-dose Ritlecitinib in Refractory Paediatric Alopecia Areata: A Case Report with Therapeutic Implications
Low-dose Ritlecitinib may help children with stubborn Alopecia Areata.
research Part 2: LLLT Devices, Medical Device Regulation, and Impact on Development
Strict regulations may slow down new LLLT treatments.
research VITAMIN D DEPENDENT RICKETS TYPE II (VDR-11). RESPONSE TO PROLONGED THERAPY WITH NOCTURNAL CALCIUM INFUSIONS
Nocturnal calcium infusions improved a boy's severe rickets without causing hair loss.
research A RARE CASE OF VITAMIN D DEPENDENT RICKETS TYPE-2A PRESENTED AS ALOPECIA TOTALIS
Vitamin D Dependent Rickets Type-2A can cause complete hair loss and bone growth issues in infants.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research GTL1 is required for a robust root hair growth response to avoid nutrient overloading
GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
research Integrated Safety Analysis of Ritlecitinib in Adolescent Patients with Alopecia Areata from the Randomized, Placebo-Controlled ALLEGRO Phase 2b/3 and Ongoing Open-Label Phase 3 ALLEGRO-LT Studies
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Ritlecitinib: First Approval
Ritlecitinib is approved in the USA and Japan for treating severe hair loss in people aged 12 and older.
research Ritlecitinib in severe alopecia areata: a profile of its use
Ritlecitinib effectively regrows hair in severe alopecia areata and is well tolerated.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Chemical lumbar sympathectomy in the treatment of idiopathic livedo reticularis
Chemical lumbar sympathectomy is an effective and safe treatment for idiopathic livedo reticularis.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia
A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Discover the True Science of Multispecialty Light-Emitting Diode Low Level Light Therapy (LED-LLLT)
LED-LLLT helps heal wounds, reduce pain, and regrow hair using specific light wavelengths.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research Radiesse
Radiesse is a versatile facial injectable used for cosmetic improvements and long-term collagen production, with careful dosing needed to prevent complications.
research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11
research Investigation of the association of the MLPH gene with seasonal canine flank alopecia in Rhodesian Ridgeback dogs
The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.