9 citations
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January 2015 in “Veterinary record case reports” This study reports the first successful treatment of a dog infected with Mycobacterium avium subspecies hominissuis using antibiotics, with no zoonotic transmission observed.
This study found that holding abatacept infusions for four weeks or longer before elective hip or knee arthroplasty did not reduce the risk of post-operative infections or readmissions.
3 citations
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April 2017 in “Medicine” This case report describes a rare instance of pediatric idiopathic hypoparathyroidism in an 11-year-old Saudi boy, characterized by extensive cranial calcifications beyond the basal ganglia, with no other neurological abnormalities.
November 2019 in “BMC veterinary research” This study concluded that moderate to severe alopecia in Belgian Blue crossbred calves was due to malabsorption of dietary fat caused by a mixing error of milk replacer.
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.
This case report describes a 14-year-old girl with coeliac disease who presented with severe hypercalcaemia due to a parathyroid adenoma, which resolved after its excision.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
143 citations
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September 1991 in “Archives of Dermatology” In this study, patients with generalized pustular psoriasis were classified into subgroups to better understand the disease's variability and assist in treatment selection, highlighting the role of localized infections in triggering flares.
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.
68 citations
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May 2021 in “Endocrine” This review discusses the emerging "endocrine phenotype" of COVID-19, highlighting the implications for managing diabetes, obesity, vitamin D deficiency, and other endocrine conditions in affected patients.
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.
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.
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.
30 citations
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October 2009 in “Journal of Veterinary Internal Medicine” This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.
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.
10 citations
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November 2012 in “International Journal of Dermatology” This study identified that certain diseases, including AIDS and systemic lupus erythematosus, may cause African hair to change to a silky, wavy texture similar to neonatal hair in affected patients.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
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.
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.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.
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.
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.
January 2025 in “BMC Nephrology” This study reported that 83.1% of patients with end-stage renal disease on hemodialysis experienced skin conditions, with xerosis affecting 63.6%, pruritis 36.4%, and notable occurrences of nail and oral anomalies, indicating a need for targeted dermatological management to improve patients' quality of life.
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.
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.
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.
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.
This study identified skin pallor, xerosis, and various hair, nail, and oral manifestations as common in children with CKD compared to healthy controls.
55 citations
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August 2009 in “Journal of Feline Medicine and Surgery” In this case report, a 14-year-old cat was diagnosed with both hyperaldosteronism and hyperprogesteronism linked to a large adrenal tumor, highlighting the importance for clinicians to consider these concurrent conditions in similar cases.
1308 citations
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March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.