1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
41 citations
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May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
19 citations
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August 2023 in “Journal of Dermatological Treatment” Abrocitinib may effectively treat stubborn alopecia universalis.
15 citations
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March 2008 in “The Journal of Dermatology” Topical squaric acid dibutylester worsened discoid lupus erythematosus in a patient.
2 citations
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April 2019 in “PubMed” Hidradenitis suppurativa is a chronic skin condition causing painful lumps and scarring, often triggered by smoking and obesity, and requires varying treatments based on severity.
Isotretinoin effectively improved severe pityriasis rubra pilaris with complications.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
6 citations
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October 1998 in “PubMed” Antifungal treatment can improve severe skin infections with cutaneous horns.
February 2009 in “Journal of The American Academy of Dermatology” Pulsed dye laser treatment was effective for a skin condition resistant to other treatments.
February 2026 in “Journal of Cutaneous and Aesthetic Surgery” Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
March 2026 in “Oral Presentations” 8 citations
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February 2006 in “Canadian Medical Association Journal” A woman with lupus and antiphospholipid syndrome had bone damage, showing the need for careful treatment.
1 citations
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January 2014 in “The Journal of Dermatology” A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
12 citations
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January 1998 in “Clinical Infectious Diseases” A kidney transplant patient developed leprosy, likely due to immunosuppression and genetic factors, and improved with treatment.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
41 citations
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December 2015 in “JAMA Dermatology” Tofacitinib citrate improved nail dystrophy and pain in patients with alopecia universalis without causing side effects.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
1 citations
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January 2012 in “Juntendō Igaku/Juntendo igaku” A simple classification based on symptoms helps diagnose and treat inherited skin disorders in Japan.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
3 citations
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June 2013 in “Turkish Journal of Rheumatology” A 16-year-old boy with Castleman's disease and lupus was successfully treated and showed no recurrence.
September 2022 in “XXXIX Congresso Brasileiro de Reumatologia” Tofacitinib may effectively treat skin symptoms in difficult cases of dermatomyositis.
July 2023 in “The Journal of Family Practice” The man was diagnosed with lupus and improved with treatment.
18 citations
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February 2006 in “Brain & development” A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
2 citations
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September 2016 in “Drug and therapeutics bulletin” Treating hidradenitis suppurativa needs long-term care and teamwork among doctors, but there's a lack of strong guidance on how to do it.
The document's conclusion cannot be provided because the document is not accessible or understandable.
4 citations
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September 2015 in “JAAD case reports” Substance P may play a role in the inflammation seen in keratosis follicularis spinulosa decalvans.