84 citations
,
September 2008 in “Developmental biology” Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.
9 citations
,
January 2019 in “Skin appendage disorders” Researchers found a new sign of fungal infection in some patients with Seborrheic Dermatitis.
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.
RCVS should be considered in thunderclap headaches, and MRA and DSA are better for diagnosis than CT angiogram.
July 2022 in “Skin research and technology” Skin CT can help diagnose rosacea by identifying specific skin features, but should be used with clinical signs to avoid misdiagnosis.
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.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
August 2018 in “Journal of the American Academy of Dermatology” Reflectance confocal microscopy helped diagnose and manage a woman's hair loss without needing a biopsy.
7 citations
,
November 2017 in “Cureus” Ear creases might indicate heart disease risk, needing more research.
January 2024 in “Faculty of 1000 Research Ltd” Digital gangrene can be an unusual first sign of late-onset lupus.
11 citations
,
November 2005 in “The Journal of Dermatology” A man's crushed thumb caused unusual horizontal nail ridges on all fingers of one hand.
14 citations
,
July 2009 in “European Journal of Gastroenterology & Hepatology” Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
January 2021 in “Skin appendage disorders” The report concludes that atypical Brauer nevus is more common in males, present at birth, and often misdiagnosed due to its unusual scalp locations.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
10 citations
,
June 2019 in “Case reports in dermatology” LALPS causes non-scarring hair loss along the Blaschko line, with unique trichoscopic findings.
1 citations
,
November 2024 in “Cureus” Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
October 2024 in “Journal of the Endocrine Society” Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
21 citations
,
July 2011 in “Journal of the American Academy of Dermatology” A man developed a rash similar to pityriasis rubra pilaris after starting sorafenib for cancer, possibly due to the drug's effect on skin cells.
October 2025 in “Clinical Case Reports” PRP injection for hair growth can cause reversible vision loss due to inflammatory optic neuropathy.
20 citations
,
January 2015 in “Polish Journal of Pathology” Reflectance confocal microscopy is a useful, non-invasive tool for diagnosing some skin diseases, with potential for future improvements.
November 2017 in “International journal of research in dermatology” A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.
13 citations
,
January 2021 in “The American journal of gastroenterology” Sirolimus effectively reduces lesions and improves quality of life in Blue Rubber Bleb Nevus Syndrome with manageable side effects.
Recognize Rapunzel syndrome in children with unexplained stomach issues for timely treatment.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
October 2022 in “Dermatology practical & conceptual” Scalp skin condition LEDS has similar features to Zoon's balanitis, a mucosal skin disorder.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
April 2018 in “The Journal of urology/The journal of urology” A new score can help predict which patients might have trouble urinating after prostate surgery.
2 citations
,
April 2018 in “Journal of Investigative Dermatology” The conclusion is that differentiating wound types in RDEB patients is important for clinical trials and understanding the disease.
5 citations
,
January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.