2 citations
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June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
July 2013 in “Indian Journal of Dentistry” A 46-year-old man showed symptoms of a rare condition usually seen in postmenopausal women, highlighting the need for dentist-dermatologist collaboration.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
16 citations
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August 2000 in “British Journal of Dermatology” Removing the liver tumor improved the patient's skin condition and hair growth.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
26 citations
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
September 2012 in “Turkish Journal of Dermatology” Erythema multiforme-like lesions can occur in lupus without drug use or herpes infection.
February 2021 in “Journal of the Korean Ophthalmological Society” A 7-year-old girl had unusually long eyelashes with no known cause or related health issues.
32 citations
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July 2001 in “Journal of the American Academy of Dermatology” SLHA can be hard to diagnose and needs teamwork between specialists.
July 2012 in “American Journal of Clinical Pathology” Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
May 2025 in “The Journal of Rheumatology” Bullous lupus can cause severe esophageal issues but responds well to corticosteroids and azathioprine.
6 citations
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February 2020 in “Journal of Cutaneous Pathology” Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
372 citations
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December 2004 in “Nature Genetics” 26 citations
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December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
May 2025 in “The Journal of Rheumatology” SLE can cause unusual gastrointestinal symptoms, and immunosuppressive therapy can be effective.
18 citations
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July 2016 in “Journal of The American Academy of Dermatology” Some skin lymphomas can look like common skin issues and need careful testing to diagnose correctly.
January 2022 in “Dermatology Review” EGFR inhibitors can cause unusual localized hair growth.
1 citations
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January 2019 in “Via Medica Journals” Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.
25 citations
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April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.