January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
1 citations
,
July 2025 in “Journal of Human Immunity” Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
5 citations
,
September 2020 in “Proceedings - Baylor University. Medical Center” Tofacitinib successfully treated a woman's severe symptoms from a rare autoimmune condition.
1 citations
,
July 2022 in “BMJ Case Reports” A woman was wrongly diagnosed with lupus but actually had leprosy.
31 citations
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May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
6 citations
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April 2012 in “Muscle & nerve” Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
February 2013 in “Pediatrics in Review” The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
January 2020 in “Przegla̧d dermatologiczny” A 5-year-old boy was diagnosed with congenital triangular alopecia, a type of hair loss without skin changes, usually starting between ages 2-5, with no specific treatment.
22 citations
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March 2017 in “Transplant Infectious Disease” Leflunomide successfully treated a rare skin condition in a liver transplant patient.
9 citations
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March 1968 in “The BMJ” A woman's severe skin reaction was caused by an allergy to a skin treatment.
A woman with a rare hair loss condition developed skin cancer in the bald area.
1 citations
,
September 2023 in “Rheumatology advances in practice” A woman's rare scalp condition worsened after using a specific arthritis medication, suggesting such medications can sometimes trigger or aggravate psoriasis.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
3 citations
,
December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
1 citations
,
December 2023 in “Cutis” Toluidine blue helps accurately diagnose and treat certain skin tumors in surgery.
December 2023 in “The journal of cell biology/The Journal of cell biology” The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
14 citations
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June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
1 citations
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April 2020 in “Asian Journal of Medicine and Biomedicine” A child's toe was saved from a rare condition where hair tightly wrapped around it by performing surgery.
1 citations
,
February 2004 in “Journal of The European Academy of Dermatology and Venereology” Hair loss improved with treatment and successful transplant.
51 citations
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May 1984 in “Journal of the American Academy of Dermatology” Benign follicular mucinosis involves immune cells attacking hair follicles.
5 citations
,
January 2024 in “Therapeutic Advances in Hematology” Mogamulizumab treatment in Sézary syndrome may cause skin issues and hair loss but can lead to a complete response.
13 citations
,
March 2002 in “Pediatric Dermatology” A child was initially wrongly diagnosed with a fungal scalp infection but actually had a non-scarring hair loss condition called Temporal Triangular Alopecia.
30 citations
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February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
2 citations
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August 1993 in “Archives of Dermatology” A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.
40 citations
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November 1966 in “Archives of Dermatology” Trichorrhexis nodosa is mainly caused by hair trauma and improves with gentler hair care.
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.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
2 citations
,
October 2023 in “Cancer Reports” Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.