18 citations
,
July 2024 in “Frontiers in Immunology” Targeting specific molecular pathways may improve treatments for chemoresistant cancers.
18 citations
,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
April 2020 in “Journal of the Endocrine Society” A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
April 2019 in “Journal of the Endocrine Society” A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
33 citations
,
February 2011 in “International Journal of Dermatology” Orange spots in scalp trichoscopy can help diagnose scalp sarcoidosis.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
December 2016 in “Asian Pacific journal of cancer biology” PCOS is a hereditary disorder that can lead to diabetes and heart disease if not treated early.
2 citations
,
January 2012 in “International Journal of Trichology” An Indian woman with Short Anagen Syndrome had very short hair and a lower quality of life.
59 citations
,
November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
112 citations
,
January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
694 citations
,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
October 2009 in “The American Journal of Gastroenterology” Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
6 citations
,
January 1997 in “Pediatric dermatology” The case suggests a possible link between severe acne and certain bone deformities.
1 citations
,
January 2015 in “Advanced techniques in biology & medicine” Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
4 citations
,
May 2012 in “Journal of Investigative Dermatology” The symposium concluded that a specific lipid might cause hair loss, inflammation is a key factor, and stem cells in bald scalps aren't working right, suggesting new treatment targets.
July 2017 in “Cancer Research” Krt15+ cells in mice can resist radiation, regenerate tissue, and start tumors, suggesting new cancer treatment targets.
2 citations
,
February 2009 in “Clinical and Experimental Dermatology” A man had rare skin tumors with bone formation and cholesterol deposits.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
1 citations
,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
March 2026 in “Mendeley Data” rwSALT accurately measures hair regrowth in alopecia areata using scalp photos.
22 citations
,
March 2007 in “European journal of pediatrics” Certain types of mucopolysaccharidoses cause significant hair abnormalities.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
January 2022 in “Acta Scientific Women's Health” Early diagnosis and treatment of PCOS can prevent complications and improve symptoms.
4 citations
,
September 2020 in “Journal of Cutaneous Pathology” 4 citations
,
February 2018 in “World journal of surgical oncology” A young woman with kidney cancer experienced rare hair loss from a cancer drug and unusual cancer spread, suggesting early drug treatment might reduce spread and prolong survival.
September 2015 in “Turkish Journal of Endocrinology and Metabolism” Consider Werner syndrome in young patients with early aging signs and metabolic issues.
35 citations
,
August 2021 in “BMC Medical Genomics” Certain metabolites may help diagnose and predict polycystic ovary syndrome.
120 citations
,
June 2008 in “American Journal of Epidemiology” A simple screening method found that 6.3% of women in a semiurban area in Sri Lanka have polycystic ovary syndrome, with most showing menstrual irregularities.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.