A woman in Sri Lanka was diagnosed with lupus after presenting with protein loss from the gut and other symptoms.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
2 citations
,
November 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Oral tofacitinib can treat both psoriasis and alopecia universalis by normalizing inflammatory pathways.
11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
November 2025 in “Skin Appendage Disorders” Immune cell-targeting biologics show potential for treating alopecia areata but need better-targeted therapies.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
September 2014 in “Emergency Medicine News” The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
February 2026 in “International Journal of Molecular Sciences” Targeting mitochondria can improve skin healing and rejuvenation.
9 citations
,
November 2000 in “Journal of the American Academy of Dermatology” A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.
4 citations
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January 2017 in “Ciência Rural” A horse in Brazil with skin and gut issues was diagnosed with a severe disease and had to be euthanized.
January 2014 in “Genes and Cells” Genetically modified cells improved skin wound healing in rats.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
August 2009 in “Australian Prescriber” Eculizumab helps reduce blood transfusions and stabilize hemoglobin but increases infection risk and is expensive.
6 citations
,
July 2018 in “Scientific Reports” Methamphetamine affects gene expression in rat whisker follicles, with key genes linked to addiction.
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
December 2025 in “BMC Medical Genomics” Hair follicles can be used to study gene expression and understand conditions like COPD.
Isotretinoin effectively improved severe pityriasis rubra pilaris with complications.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
3 citations
,
April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
2 citations
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July 2024 in “Frontiers in Veterinary Science” Apoptosis and ribosomal proteins are key in hair follicle cycle changes in cashmere goats.
June 1987 in “Pediatric Neurology Briefs” Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
2 citations
,
January 2018 The document reports the 19th global case of a rare skin condition in a patient from Colombia.
October 2025 in “The American Journal of Gastroenterology” Infliximab can cause SAPHO syndrome, which may improve with Spesolimab and methotrexate.
March 2022 in “Biomedical Journal of Scientific & Technical Research” Improving mitochondrial health may help alleviate symptoms like chronic fatigue and depression.
41 citations
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September 2012 in “Cellular and Molecular Life Sciences” MicroRNAs play a crucial role in skin and hair health, affecting everything from growth to aging, and could potentially be used in treating skin diseases.
53 citations
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June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
18 citations
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January 2009 in “Experimental Dermatology” mTOR may link different pathways in hair follicle tumor formation.