4 citations
,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
35 citations
,
September 2006 in “American Journal Of Pathology” Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
2 citations
,
February 2009 in “Clinical and Experimental Dermatology” A man had rare skin tumors with bone formation and cholesterol deposits.
36 citations
,
December 2004 in “British Journal of Dermatology” The cyst had unusual keratin spherules and resembled bone marrow.
17 citations
,
July 2013 in “Amino Acids” Increased ODC activity leads to skin tumors by recruiting stem cells, not by toxic byproducts.
21 citations
,
August 2002 in “British Journal of Ophthalmology” Intralesional cidofovir may be a viable alternative treatment for SCC.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
February 2026 in “Journal of Dermatology and Skin Science” Dermatologists are key in detecting and managing OCD and BFRBs by working with psychiatrists.
3 citations
,
September 2022 in “European Journal of Dermatology” This study focused on a family with Junctional epidermolysis bullosa (JEB), a rare genetic disorder, to confirm their diagnosis and identify the pathogenic variant. Researchers collected clinical data and DNA from family members, utilizing whole-exome sequencing and Sanger sequencing to detect gene variants. They discovered a novel splice-site variant (c.629-12T>G) in the LAMB3 gene present in all patients, confirming it as a pathogenic variant. The study concluded that diagnosing JEB should rely on gene sequencing, as splice site variants can also lead to the disease.
15 citations
,
November 2020 in “Development” Stem cells in the eye have different roles and behaviors, helping maintain and repair the eye's surface.
December 2016 in “University of Birmingham Institutional Research Archive (University of Birmingham)” Steroid-producing capabilities in certain cancers may contribute to treatment resistance.
18 citations
,
February 2015 in “Acta Crystallographica Section D: Structural Biology” The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.
September 1999 in “Molecular Carcinogenesis” Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
5 citations
,
January 2020 in “Wiadomości lekarskie (Warsaw Poland)” Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
36 citations
,
September 2013 in “PLoS ONE” Sweat gland stem cells help maintain glands, aid wound healing, and can regenerate skin structures.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
1 citations
,
May 2023 in “Dermatological Reviews” Dermatologists often suffer from neck, shoulder, and back pain due to their work.
64 citations
,
March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
8 citations
,
July 2014 in “American Journal of Dermatopathology” Cutaneous keratocyst and steatocystoma should be called "sebaceous duct cyst" due to their similarities.
65 citations
,
March 2004 in “Journal of Clinical Investigation” Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
January 2014 in “Progress of Digestive Endoscopy” Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
38 citations
,
April 2016 in “The Journal of Pathology” Alkaline ceramidase 1 is crucial for healthy skin and energy balance.
January 2018 in “The Kaohsiung journal of medical sciences” A young man had a rare case of hair cysts on his elbows, which was hard to diagnose and treat.