48 citations
,
January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
1 citations
,
January 2023 in “Journal of Drugs in Dermatology” Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
October 2025 in “Pediatric Dermatology” A 16-year-old boy's facial condition improved with doxycycline, suggesting an immune response to hair follicle damage.
18 citations
,
December 2010 in “Transplantation Proceedings” Black hairy tongue can be an early sign of graft-versus-host disease after stem cell transplants.
9 citations
,
May 2013 in “JAMA Dermatology” Sunlight exposure improved a patient's skin condition, and there may be a link between a certain disease and skin growths; a leukemia treatment caused changes in hair color and growth.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
November 2024 in “Rheumatology Advances in Practice” Monitor for early signs of azathioprine toxicity and check blood counts regularly.
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
46 citations
,
March 2005 in “Endocrinology” Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
February 2021 in “Pakistan Armed Forces Medical Journal” A rare skin condition usually found near the eyes was found on a farmer's scalp.
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.
April 2016 in “Journal of the American Academy of Dermatology” Treatment improved some symptoms but not all.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
1 citations
,
January 2008
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
6 citations
,
February 1985 in “Archives of Dermatology” Systemic corticosteroids can cause unusual skin issues in people with juvenile rheumatoid arthritis.
March 2026 in “Dermatopathology” A rare skin tumor with extra hair growth was found and safely removed from a 27-year-old woman.
January 2024 in “Faculty of 1000 Research Ltd” Digital gangrene can be an unusual first sign of late-onset lupus.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
15 citations
,
April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
January 2020 in “International Journal of PharmTech Research” A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
January 2025 in “Annals of Clinical Reviews & Case Reports” Early diagnosis and a multidisciplinary approach are key to managing Sjogren's Disease symptoms.
October 2015 in “The American Journal of Gastroenterology” Allopurinol may cause rare granulomatous microscopic colitis.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
13 citations
,
July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
5 citations
,
February 2016 in “Sultan Qaboos University medical journal” The patient had a severe itchy rash and hair loss in the armpits.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.