November 2023 in “BMJ case reports” A man in his 30s had patchy hair loss on his leg due to primary follicular mucinosis.
2 citations
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January 1998 in “Neurourology and Urodynamics” AMN can cause bladder problems due to nerve damage.
June 2023 in “Scholars journal of medical case reports” A black-skinned woman was diagnosed with Vogt-Koyanagi-Harada disease and treated with steroids and eye drops.
January 2024 in “Wiadomości Lekarskie” Glioma treatment may improve with new therapies and technologies.
April 2021 in “Authorea (Authorea)” A 20-year-old woman had stable Progressive Hemifacial Atrophy and Vitiligo after treatment, suggesting a possible link between the conditions.
15 citations
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March 2007 in “BioTechniques” The assay quickly identifies substances that increase or decrease blood vessel growth.
March 2021 in “Indian Journal of Case Reports” A young woman with late-stage Vogt-Koyanagi-Harada disease was successfully treated at a hospital.
1 citations
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January 2023 in “Journal of Drugs in Dermatology” Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
1 citations
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September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
1 citations
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
August 2018 in “Journal of The American Academy of Dermatology” Patients with multiple superficial venous thrombosis are at greater risk for serious complications like cancer and recurrent blood clots.
March 2014 in “Journal of The American Academy of Dermatology” Reflectance confocal microscopy can noninvasively diagnose onychomatricoma by showing unique features different from healthy nails or nail fungus.
May 2015 in “Actas Dermo-Sifiliográficas” A young man was unexpectedly diagnosed with basal cell carcinoma after a scalp examination and confocal microscopy.
Vismodegib effectively treats advanced basal cell carcinoma but requires careful management of serious side effects.
April 2023 in “Journal of Investigative Dermatology” Psoriasis patients did not show more brain atrophy or small vessel disease than controls, but longer psoriasis duration was linked to more brain atrophy.
1 citations
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January 2007 in “The Internet Journal of Dermatology” A rare, harmless skin tumor was found on a man's nose.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
May 2025 in “The Journal of Rheumatology” Atypical symptoms in lupus can indicate different kidney issues.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
7 citations
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February 2010 in “British Journal of Dermatology” A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
September 2020 in “Oral surgery, oral medicine, oral pathology and oral radiology” The report shows that a rare benign tumor was successfully removed from inside the mouth to avoid scarring on the face.
17 citations
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April 2023 in “Aging” CNGA3, GLUD1, and SIRT1 are promising targets for treating aging and glioblastoma.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
February 2025 in “Journal of the European Academy of Dermatology and Venereology” Mogamulizumab can cause hair loss, often linked to a better treatment response.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.