May 2025 in “Hormone Research in Paediatrics” This case study described a girl with vitamin D-dependent rickets type 2A who developed long-standing tertiary hyperparathyroidism, yet this did not hinder the healing of her rickets or normalization of hypophosphatemia; high doses of intravenous calcium were pivotal for recovery.
7 citations
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July 2004 in “Endocrine practice” This case report highlights how persistent hyperphosphatemia, albeit often overlooked, can precede clinical acromegaly symptoms in women, complicating diagnosis due to overlapping features with oral contraceptive use and polycystic ovary syndrome.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
April 2024 in “Research Square (Research Square)” This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study on adult-onset, whole body Spry1/2/4 triple knockout mice, researchers observed endocrine abnormalities and no increased tumor incidence, despite similar food intake and motor function.
111 citations
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April 2006 in “Annals of the New York Academy of Sciences” This study found that preventing abnormal mineral ion homeostasis in vitamin D receptor knockout mice stopped bone abnormalities, while the animal's skin phenotype arose from direct receptor effects independent of vitamin D.
110 citations
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November 1984 in “The American Journal of Medicine” This study observed that children with a genetically transmitted defect in the 1,25-dihydroxyvitamin D3 receptor experienced spontaneous healing of rickets as they aged, despite persistent mineral imbalances during treatment.
45 citations
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December 2006 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses the multifaceted role of vitamin D in the body, noting its influence on calcium balance, hair cycle maintenance, cell proliferation, cardiovascular function, and immune modulation, with no new clinical results reported.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
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.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.
In this case study, a 12-month-old girl presenting with apyretic seizure and congenital alopecia was diagnosed with hereditary vitamin D-resistant rickets, highlighting the importance of comprehensive evaluation for accurate diagnosis.
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.
6 citations
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July 2020 in “Photodermatology Photoimmunology & Photomedicine” This review discusses the link between various skin diseases, such as ichthyosis and psoriasis, and the occurrence of rickets, though no new clinical results were reported.
June 2026 in “World Journal of Clinical Pediatrics” This study highlights the importance of recognizing non-nutritional forms of rickets, which can manifest with subtle symptoms like alopecia and cataracts, and emphasizes that a comprehensive diagnostic approach, including genetic testing, can improve management and treatment outcomes.
65 citations
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September 2023 in “Cell Reports Medicine” This review examined the common side effects of FGFR inhibitors like erdafitinib, pemigatinib, and futibatinib, and detailed strategies for managing them, highlighting that proactive monitoring and appropriate interventions can effectively mitigate these toxicities.
10 citations
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July 2016 in “Clinical and translational science” In this study, sorafenib's common adverse events, like a hand-foot syndrome and diarrhea, were observed in distinct temporal and tissue distribution patterns, revealing new relationships among effects.
10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.
September 2024 in “Clinical Case Reports” This case report highlights a rare presentation of APS-1 in a 28-year-old Pakistani male with cardiovascular and pulmonary symptoms, illustrating the importance of early recognition and multidisciplinary management for improved patient outcomes.
December 2023 in “Indian Journal of Endocrinology and Metabolism” In this case report from People's College of Medical Sciences, a 20-year-old man initially misdiagnosed with Addison's disease was ultimately found to have strongyloidiasis, with his symptoms and weight loss improving after antihelminthic treatment.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
8 citations
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December 1981 in “Journal of The American Academy of Dermatology” This review addresses clinical findings in parathyroid disease and discusses the metabolism of calcium, phosphorus, vitamin D, and parathyroid hormone, reporting no new results.
February 2006 in “Journal of The American Academy of Dermatology” Terbinafine is more effective than itraconazole for toenail fungus, especially in older patients, and debridement improves its effectiveness.
176 citations
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August 1981 in “JAMA” This study reported that toxic shock syndrome, originally noted in children, is now predominantly associated with menstruating women, with some experiencing recurrence and complications like vocal cord paralysis and impaired finger sensation.
103 citations
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June 2018 in “International Journal of Molecular Sciences” This review discusses the applications and research on fibroblast growth factors, including their use in wound healing, diabetes, and cancer, but it reports no new clinical results.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
4 citations
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March 2006 in “Journal of renal nutrition” This study found that hemodialysis patients taking water-soluble vitamins had a 16% lower mortality risk compared to those not taking any, but the specific supplementation needed remains unclear.
October 2023 in “Journal of the Endocrine Society” This case report describes ALP elevation in a patient with severe OA that normalized after bilateral knee replacements, highlighting a potential link between OA and ALP levels.
January 2024 in “Brazilian Journal of Veterinary Pathology” In this case report, veterinarians observed a 16-year-old mare with symptoms including chronic weight loss, pruritus, muscle atrophy, and lameness, which gradually progressed to neurological issues despite initial treatment.