July 2022 in “International Journal of Contemporary Pediatrics” This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.
107 citations
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March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
23 citations
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October 2015 in “Plastic and reconstructive surgery/PSEF CD journals” This article reviews the author's experience and favored techniques for using Radiesse in cosmetic treatments but reports no new clinical trial results.
July 2023 in “Journal of medical and health studies” This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.
November 2024 in “Skin Appendage Disorders” This review provides insights and guidelines for clinicians and patients on assessing the risks and benefits of ritlecitinib for adolescents with alopecia areata, emphasizing shared decision-making and management strategies.
232 citations
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January 2002 in “Mechanisms of development” This study reports that the differential expression patterns of three retinaldehyde dehydrogenases suggest a regulated need for retinoic acid synthesis in various organs during late mouse organogenesis.
October 2024 in “Journal of the Endocrine Society” This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.
29 citations
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January 2003 in “KARGER eBooks” In this study, researchers concluded that hereditary 1,25-dihydroxyvitamin D-resistant rickets, characterized by specific mutations in the vitamin D receptor gene, may resolve metabolic abnormalities with age, though associated alopecia remains.
June 2026 in “Dermatology and Therapy” This study reported that ritlecitinib was prescribed to a diverse group of patients with severe alopecia areata in the first 10 months after FDA approval, indicating its potential role in AA management.
April 2024 in “Communications biology” The researchers reported that disrupting ATRA signaling by deleting RDHE genes in the hair follicle led to altered hair follicle cycles, composition, and gene expression, indicating RDHEs' role in hair follicle signaling coordination.
5 citations
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August 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study observed sexually dimorphic effects of reduced Rdh10 on energy metabolism and muscle function in mice, with males experiencing decreased endurance and females showing increased endurance on a high-fat diet.
July 2025 in “SKIN The Journal of Cutaneous Medicine” This study reported that ritlecitinib was generally well tolerated over 72 months in patients aged 12 and older with alopecia areata, with adverse events like headache and nasopharyngitis observed, and safety outcomes consistent with previous studies.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
June 2026 in “British Journal of Dermatology” This audit of ritlecitinib prescribing for severe alopecia areata found that regional practices largely followed national guidelines but highlighted the need for better psychological assessments and more consistent use of SALT scoring to inform treatment continuation decisions after 36 weeks.
January 2024 in “Clinical, cosmetic and investigational dermatology” In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.
August 2019 in “International journal of contemporary pediatrics” This case study reports that a 3 ½ year-old male with vitamin D-dependent type II rickets showed partial improvement in alopecia and rickets when treated with high doses of 1,25(OH)2 vitamin D3.
January 2023 in “International Journal of Contemporary Pediatrics” This case study describes a 5-year-old boy with vitamin D dependent rickets type 2, motor delays, and alopecia totalis who showed improved biochemical parameters with calcium and calcitriol treatment.
July 2025 in “SVU-International Journal of Medical Sciences” This case report presents the dental challenges faced by a child with vitamin D-dependent rickets type II, including early onset rickets, alopecia, and specific dental abnormalities, emphasizing the need for comprehensive, multidisciplinary management.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel mechanism by which dsRNA-induced TLR3 activation and retinoic acid pathways contribute to new hair follicle formation after deep wounds in mice and suggested a similar potential in humans.
1 citations
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June 2023 in “Radiation oncology journal” This study suggests that low-dose radiotherapy may lead to temporary neurological improvements in some Alzheimer's patients, with 20% showing cognitive improvement at 6 months; it was well-tolerated, though larger trials are needed for confirmation.
June 2026 in “British Journal of Dermatology” In this real-world study, 27% of alopecia areata patients treated with ritlecitinib achieved a target SALT score, a result consistent with clinical trial findings, highlighting the value of patient-reported outcomes in understanding treatment impact beyond traditional measures.
7 citations
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June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
June 2026 in “British Journal of Dermatology” In this study, real-world data of 31 patients using ritlecitinib for severe alopecia areata showed that 51% achieved significant hair regrowth after one year, with no serious adverse events reported, emphasizing the importance of considering treatment duration for response.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
November 2024 in “SKIN The Journal of Cutaneous Medicine” This study reports that ritlecitinib was prescribed to a diverse group of patients, including adolescents and adults with and without prior treatment for Alopecia Areata, in the first three months after FDA approval, potentially expanding care options for this condition.
October 1990 in “Pediatric Research” This case report details a severe instance of VDR-II where intravenous calcium infusions, administered nightly, successfully improved clinical, radiological, and biochemical signs of rickets without alopecia despite ineffective calcitriol therapy.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
61 citations
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April 2014 in “Radiation Research” This study observed that topically applied RTA 408 reduced the severity of radiation-induced dermatitis in mice, with the highest dose significantly reducing and alleviating skin damage and associated inflammation.
34 citations
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January 2016 in “Analytical Chemistry” This study reports that a new DART-HRMS method can effectively analyze intact hair for drug use timelines, with cocaine detection aligning with forensic standards and identifying multiple drugs from high-resolution data.