March 2025 in “Laboratory Investigation” MESTSV is a rare tumor that is mostly benign but needs long-term monitoring due to potential recurrence.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
44 citations
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October 2016 in “Epilepsia” 2-DG reduces seizures by enhancing brain inhibition through specific receptor activation.
17 citations
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April 2023 in “Aging” CNGA3, GLUD1, and SIRT1 are promising targets for treating aging and glioblastoma.
3 citations
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July 2013 in “Journal of Cutaneous Pathology” A woman's hair loss, resembling an autoimmune condition, improved after treatment, but requires ongoing checks due to potential serious associations.
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.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
Men with benign prostate hyperplasia have more meibomian gland loss and tear film problems.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
2 citations
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February 2009 in “Clinical and Experimental Dermatology” A man had rare skin tumors with bone formation and cholesterol deposits.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
21 citations
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January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
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.
January 2025 in “International Journal of Dermatology” Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
16 citations
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May 2017 in “Journal of Clinical Ultrasound” A rare finger tumor was imaged, showing a unique pattern not seen before.
March 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Hair transplant surgery using micropunch can cause blood vessel damage similar to vasculitis in some cases.
1 citations
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September 2021 in “Pharmaceutics” High-dose finasteride may help treat glioblastoma but needs localized delivery for effectiveness.
July 2014 in “Plastic and Reconstructive Surgery” Sentinel lymph node biopsy is recommended for all types of desmoplastic melanoma due to higher rates of nodal metastasis.
July 2014 in “Plastic and Reconstructive Surgery” Sentinel lymph node biopsy is recommended for all types of desmoplastic melanoma due to higher rates of nodal metastasis.
December 2021 in “International journal of research - granthaalayah” A young woman had a rare, usually non-cancerous tumor on her face that was initially mistaken for a different condition.
1 citations
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September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
2 citations
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April 2012 in “American Journal of Dermatopathology” Accurate diagnosis of NLS with dilated hair follicles is crucial to distinguish it from other conditions.
32 citations
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August 2003 in “Journal of the European Academy of Dermatology and Venereology” cGVHD often severely affects the skin, causing rapid aging and other issues.
7 citations
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October 2008 in “Arthritis Care & Research” Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.
1 citations
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April 2024 in “Dermatology Practical & Conceptual” Thick scalp melanoma can be hard to diagnose because it often looks like other skin conditions.
February 2024 in “Rheumatology & autoimmunity” Lupus can cause unusual vision problems, so it's important to consider it in such cases.