January 2025 in “Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna)” Accurate diagnosis is crucial to distinguish alopecia areata incognita from androgenetic alopecia in men for proper treatment.
January 2025 in “Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna)” Skin patting and iontophoresis with dutasteride gel improved hair growth in people with androgenetic alopecia.
January 2018 in “Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna)” Prompt veterinary care and proper diagnosis are crucial for treating rare fungal skin diseases in horses.
2 citations
,
March 2016 in “International Journal of Dermatology” Kikuchi–Fujimoto disease can cause scarring alopecia and should be considered in diagnosis.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
1 citations
,
February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
18 citations
,
January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
1 citations
,
January 2017 in “Tohoku journal of experimental medicine” A woman's mature cystic teratoma caused her virilization by producing testosterone.
5 citations
,
September 2021 in “Clinical case reports” GLPLS is a rare skin condition with specific hair loss and skin symptoms.
June 2024 in “British Journal of Dermatology” A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
1 citations
,
October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
53 citations
,
September 2014 in “Reproductive Biology and Endocrinology” Different types of PCOS have different levels of metabolic problems, with the most severe type showing the highest disturbances.
6 citations
,
December 2011 in “Clinical and Experimental Dermatology” A woman developed rare, unexplained curly hair on her scalp and eyelashes.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
12 citations
,
March 2004 in “Journal of Investigative Dermatology”
May 2025 in “The Journal of Rheumatology” Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
9 citations
,
February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
May 2020 in “International journal of dermatology and venereology” Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
6 citations
,
May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
84 citations
,
June 1970 in “Journal of Investigative Dermatology” 1 citations
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January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.