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.
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.
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.
46 citations
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July 1988 in “Journal of The American Academy of Dermatology” This review discusses various skin lesions associated with endocrinologic disorders such as Cushing's syndrome and adrenal insufficiency, and it reports no new clinical results.
40 citations
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April 2013 in “Dermato-endocrinology” In this study, researchers observed vitamin D insufficiency in many patients with Alopecia Areata, suggesting its potential role in managing this autoimmune condition.
