October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
23 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
47 citations
,
June 2015 in “Contact Dermatitis” A standardized patch test for hair cosmetics is needed in Europe to prevent allergies, especially for hairdressers.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeting cholesterol, fatty acids, fibrosis, and mast cells may help treat CCCA.
21 citations
,
October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
61 citations
,
August 1993 in “PubMed” Basal cell epithelioma likely starts from the hair follicle's outer root sheath.
15 citations
,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
32 citations
,
August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
48 citations
,
January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
12 citations
,
June 2015 in “Dermatology Reports” Middle-aged women in Iran are most affected by primary cicatricial alopecia, especially discoid lupus erythematous.
January 2025 in “International Journal of Forest Animal and Fisheries Research” DHEA may play a complex role in PCOS, affecting hormones, metabolism, and symptoms.
April 2015 in “Our Dermatology Online” Zinc supplements and diet changes can effectively treat zinc deficiency and prevent complications.
52 citations
,
May 1997 in “Journal of Biological Chemistry” High ornithine decarboxylase levels may lead to hair loss and cancer by increasing CK2 activity in the nucleus.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
3 citations
,
April 2017 in “Clinical Drug Investigation” The study found that prescribing patterns for Cyproterone Acetate/Ethinylestradiol in Italy did not significantly change after EMA recommendations.
1 citations
,
November 2024 in “Cureus” Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
19 citations
,
October 2008 in “Expert Review of Dermatology” EGF receptor is crucial for skin health and its inhibitors can cause skin rashes.
4 citations
,
January 2017 in “Ciência Rural” A horse in Brazil with skin and gut issues was diagnosed with a severe disease and had to be euthanized.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
15 citations
,
February 2020 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is crucial for healthy skin barrier function.
9 citations
,
January 2018 in “Acta dermato-venereologica” A substance called poly(I:C) increases a protein called carbonic anhydrase II in skin cells, which might help with skin defense and healing.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
January 2011 in “Journal of the American Academy of Dermatology” Dr. Conroy's book on Morgellon's disease lacks credible evidence and scientific validity.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
35 citations
,
January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” CD98hc's role in skin health decreases with age.
12 citations
,
December 2020 in “Archives animal breeding/Archiv für Tierzucht” EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
2 citations
,
March 2012 in “Hiroshima University Acedemic Information Repository (Hiroshima University)” Kainar syndrome symptoms may be linked to nuclear test exposure effects.