175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
July 2024 in “Journal of Investigative Dermatology” Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
10 citations
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June 2011 in “Archives of Dermatology” Finasteride caused blisters on hands and feet.
February 2018 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Ferroportin in macrophages is crucial for hair growth and skin healing by managing iron distribution.
Targeting the PGI2 pathway may help heal diabetic foot ulcers.
8 citations
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November 2018 in “Australasian Journal of Dermatology” Frontal fibrosing alopecia in families shows similar signs to individual cases and may have a genetic link.
January 2023 in “Advances in reproductive sciences” Higher levels of the protein Pannexin-1 may play a role in hair loss in women with PCOS.
July 2021 in “British Journal of Dermatology” A woman with systemic sclerosis developed a unique scarring hair loss combining features of systemic sclerosis and frontal fibrosing alopecia.
2 citations
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July 2022 in “Frontiers in Medicine” The cause of Frontal fibrosing alopecia, a type of hair loss, is complex, likely involving immune responses and genetics, but is not fully understood.
34 citations
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June 2020 in “British journal of dermatology/British journal of dermatology, Supplement” Frontal fibrosing alopecia is linked to increased immune system activity and reduced stem cells, suggesting early treatment targeting this pathway might prevent hair follicle damage.
5 citations
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January 2016 in “Skin appendage disorders” Frontal fibrosing alopecia might be linked to autoimmune diseases.
9 citations
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January 2020 in “Postepy Dermatologii I Alergologii” Frontal fibrosing alopecia is a poorly understood condition with increasing cases and unclear treatment effectiveness.
4 citations
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December 2017 in “International Journal of Biomedicine” Fibroblast transplantation improves wound healing, with dermal equivalents slightly enhancing skin regeneration.
4 citations
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July 2023 in “Experimental Dermatology” Fat grafting reduces scar fibrosis but may slow skin healing.
14 citations
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September 2015 in “Ophthalmic plastic and reconstructive surgery” Surgical removal of abnormal fat pads fixed the woman's eyelid issue caused by likely silicone injections.
July 2025 in “Journal of Investigative Dermatology” Upadacitinib effectively treats pyoderma gangrenosum.
Fetuin-A levels are higher in PCOS patients, suggesting it may play a role in the condition.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
26 citations
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December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
1 citations
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May 2020 in “PubMed” Activating autophagy might reverse skin fibrosis.
19 citations
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July 2022 in “PNAS Nexus” Similar treatments might work for different types of scarring hair loss.
February 2026 in “Cosmetics” Perifollicular elastolysis is poorly understood, with limited treatment options and inconsistent results.
12 citations
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January 2016 in “Journal of clinical biochemistry and nutrition” Deferasirox combined with sorafenib reduces liver cancer risk and lessens treatment side effects.
January 2025 in “Indian Journal of Dermatology” Frontal fibrosing alopecia is a challenging hair loss condition with no known cause or definitive treatment.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
November 2025 in “Journal of Diabetes Investigation” Dapagliflozin improved blood sugar control in a man with Werner syndrome without side effects.