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.
September 2023 in “International journal of science and healthcare research” In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder.
March 2023 in “International journal of trichology” This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.
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.
37 citations
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August 2015 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that in a mouse model with hereditary 1,25-dihydroxyvitamin D resistant rickets, a mutant vitamin D receptor lacking hormone-binding ability could restore normal hair cycling and affect parathyroid hormone regulation.
6 citations
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May 2012 in “Pediatric Dermatology” This article shares a case of Satoyoshi syndrome that was misdiagnosed as vitamin D-dependent rickets for several years.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.
August 2015 in “Europe PMC (PubMed Central)” This article discusses the role of anthropometry in torso aesthetics and plastic surgery, focusing on Carlo Rochet's sculptural work, and reports no new clinical findings.
5 citations
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October 2003 in “PubMed” This case report describes a 30-year-old male with a late diagnosis of Kallmann's syndrome, highlighting the necessity of hormonal therapy to reduce the risk of osteoporosis and bone fractures despite the patient's acceptance of his physical appearance.
December 2017 in “Elsevier eBooks” This study suggests that unliganded vitamin D receptors in mice may cause more severe skeletal and mineral ion defects than VDR-null conditions, and vitamin D analogues may restore function in specific VDR mutations.
May 1993 in “Current problems in dermatology” This review discusses diagnostic approaches for childhood skin diseases with fever through clinical observations and covers recent advances in understanding the pathogenesis and epidemiology of related infections, without reporting new clinical results.
13 citations
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December 2017 in “Archives of Medical Sciences” This article highlights that rivaroxaban, commonly associated with bleeding risks, may also cause rare non-bleeding adverse effects like liver injury and hypersensitivity.
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.
14 citations
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October 2023 This article summarizes the essential roles and effects of deficiencies of both fat-soluble and water-soluble vitamins, noting issues ranging from blindness due to vitamin A deficiency to scurvy caused by a lack of vitamin C.
5 citations
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January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” This case study highlights congenital atrichia with papular lesions as a cause of total body hair loss, characterized by the absence of hair follicles and the presence of skin-colored papules.
4 citations
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January 2020 in “Dermatology Online Journal” In this report, a 1-year-old boy with congenital atrichia with papular lesions was found to have a complete absence of scalp and body hair and keratin-filled cysts due to a mutation in the hairless gene.
1 citations
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November 2022 in “World Family Medicine Journal /Middle East Journal of Family Medicine” This study found that while participants in Jeddah, Saudi Arabia, had good knowledge about Vitamin D and recognized sunlight as a key source, there was inconsistency in their attitudes towards maintaining adequate Vitamin D levels.
1 citations
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January 1980 in “Side effects of drugs annual” This chapter reviews various adverse effects associated with vitamins, including hypercalcemia from high doses of vitamin A, hair loss from retinoid treatment, and complications with vitamin B6 in Parkinson's therapy, but reports no new clinical findings.
January 2013 in “International journal of trichology” Vitamin D3 and its receptor are important for hair growth, and understanding receptors could help treat hair graying and skin cancer.
January 2005 in “mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich)” This study found that vitamin D regulation plays a crucial role in connecting metabolic and cardiovascular conditions, influencing gene expression related to these disorders in both kidney and heart tissues.
May 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study identified interactions between Vitamin D and Msx1 regulation pathways, noting that Msx1 overexpression decreases Vitamin D receptor expression in odontoblastic cells.
September 2025 in “Digital Commons - RU (Rockefeller University)” In this study, researchers found that mice lacking the transcription factor FOXC1 in their hair follicle stem cells had increased rounds of hair regeneration but experienced hair thinning due to impaired ability to maintain stem cell quiescence and adhesion.
September 2025 in “Digital Commons - RU (Rockefeller University)” This study found that when NFIB was removed in adult mouse hair follicle stem cells, it did not affect their maintenance but unexpectedly led to increased proliferation and differentiation of nearby melanocyte stem cells.
387 citations
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May 2019 in “International Journal of Molecular Sciences” This review discusses the therapeutic potential of adipose-derived stem cells compared to other mesenchymal stem cells, emphasizing their promise in treating neurodegenerative, cardiovascular, and autoimmune diseases, but reports no new clinical results.
263 citations
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February 2020 in “International journal of molecular sciences” This paper discusses the potential roles of adipose tissue derived stem cells in skin regeneration and wound healing but emphasizes the need for further research on their effectiveness in clinical settings.
42 citations
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August 1995 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that RXR-alpha is strongly expressed in both normal and psoriatic human skin, suggesting it may play a role in the transition from proliferation to differentiation in epidermal keratinocytes.
12 citations
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December 2013 in “The Journal of Urology” Men's age, urinary symptoms, and heart health risks create different types of erectile dysfunction.
This study found that a significant portion of the Beyond-COVID cohort reported persistent symptoms, with Omicron variants showing lower rates and severity of symptoms compared to other variants.
February 2026 in “International Journal of Molecular Sciences” This review explores the potential roles of extracellular vesicles in various medical fields, emphasizing their promise but noting the need for standardization and clinical testing before widespread application.
November 2018 in “Skin appendage disorders” The document concludes that a woman has both Frontal Fibrosing Alopecia and Lichen Simplex Chronicus, a previously unreported combination of conditions.