6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
January 2026 in “Journal of Dermatological Science” DcR3 helps heal wounds and regrow hair by changing macrophages to a repair-focused type.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
December 2011 in “Journal of the Turkish Academy of Dermatology” Pityriasis rubra pilaris can occur with myasthenia gravis.
April 2026 in “Journal of Cutaneous Pathology” Alopecia can be caused by multicentric reticulohistiocytosis.
126 citations
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
December 2022 in “Biological and Clinical Sciences Research Journal” Early treatment of mixed connective tissue disease is crucial to prevent severe autoimmune conditions.
March 2021 in “Research Square (Research Square)” Strontium ranelate helps cartilage growth by blocking a specific cell pathway.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
48 citations
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July 1988 in “PubMed” Rhino mice show significant meibomian gland changes, making them a potential model for studying gland disorders.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
10 citations
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July 2014 in “Annals of Saudi Medicine” A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
December 2018 in “Neuroradiology” MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
12 citations
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February 2017 in “Graefe s Archive for Clinical and Experimental Ophthalmology” Gore-Tex is effective for severe congenital ptosis, with the open approach better for no lid crease and the closed approach better for a preserved crease.
13 citations
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November 2024 in “EClinicalMedicine” Standardized de-facing protocols can prevent identification from anonymized MRI images, enhancing privacy protection.
November 2025 in “Informatica” The method greatly improves low-light sports images' quality and reduces artifacts.
46 citations
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May 2021 in “Stem Cell Research & Therapy” Strontium ranelate helps cartilage growth by blocking a specific cell pathway.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
11 citations
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January 2013 in “Revista Brasileira De Terapia Intensiva” Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
211 citations
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May 2013 in “Journal of Nutrition Health & Aging” MK-0773 safely increased muscle mass but did not improve muscle strength or function in elderly women with sarcopenia.
3 citations
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July 2023 in “Cells” MG53 helps reduce skin damage caused by nitrogen mustard.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
39 citations
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April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
February 2010 in “Journal of The American Academy of Dermatology” The document concludes that using gadolinium-based contrast agents during MRI can be linked to Nephrogenic Systemic Fibrosis in patients with severe kidney disease.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.