June 2025 in “Veterinary Sciences” Oclacitinib effectively treated a diabetic cat's severe skin issues without raising glucose levels, and surgery fixed eyelid fusion.
14 citations
,
January 2015 in “Acta dermato-venereologica” Acitretin significantly reduced inflammatory attacks in a woman with Naevus Comedonicus Syndrome but caused side effects.
13 citations
,
July 2009 in “Pediatrics in Review” Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
6 citations
,
January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
An infant with a zinc deficiency skin disorder improved with zinc treatment.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
3 citations
,
January 1989 in “The Nishinihon Journal of Dermatology” A hair cyst can become cancerous, showing specific keratins from the hair sheath.
46 citations
,
October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
7 citations
,
December 1970 in “Biochimica et Biophysica Acta (BBA) - Protein Structure”
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
26 citations
,
December 1990 in “Journal of Biological Chemistry” Two specific genes are more active during hair growth in mice.
28 citations
,
January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
3 citations
,
February 2020 in “The Egyptian Rheumatologist” Recognizing LET and AITD can help diagnose SLE early for better treatment.
3 citations
,
February 2019 in “Molecular genetics and metabolism” The combination of tadalafil and finasteride improves urinary symptoms and erectile function in men with enlarged prostates.
5 citations
,
September 2009 in “Acta Ophthalmologica” Hyper-keratinisation in Meibomian glands contributes to gland dysfunction.
3 citations
,
August 2022 in “International Journal of Molecular Sciences” TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
21 citations
,
January 2013 in “Clinical Endoscopy” First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
15 citations
,
May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
May 2016 in “Mayo Clinic proceedings” A gluten-free diet fixed a man's severe stomach pain and bowel issue related to celiac disease, but not much his hair loss.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
12 citations
,
May 2023 in “Molecules” Polygoni Cuspidati Rhizoma et Radix contains compounds that inhibit certain enzymes.
March 2023 in “Journal of Pakistan Society of Internal Medicine.” Lupus enteritis is a rare but serious gut inflammation in lupus patients, often hard to diagnose without prior lupus symptoms.
31 citations
,
July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
May 2023 in “Research Square (Research Square)” Patients with acne and insulin resistance have different blood metabolites compared to those with only acne, which could help in diagnosis and treatment.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.