14 citations
,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
May 2021 in “Dermatopathology” The review emphasizes the need to recognize skin conditions that affect hair follicles and sweat glands to avoid misdiagnosis.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
10 citations
,
October 2014 in “Journal of Ovarian Research” The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
1 citations
,
November 2023 in “Indian Dermatology Online Journal” Primary essential CVG is a rare, benign scalp condition with treatment focusing on symptom management and hygiene.
January 2026 in “Indian Journal of Paediatric Dermatology” A 14-year-old boy has a skin condition called nevus comedonicus, treated with tretinoin cream.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
March 2022 in “Veterinary dermatology” A one-year-old cat had multiple benign skin tumors similar to those known in humans.
1 citations
,
July 2018 in “Dermatologic Surgery” Different tumor cells in one basal cell carcinoma can cause mixed treatment responses, suggesting personalized treatment is needed.
June 2025 in “Histopathology” Epithelial elements in superficial angiomyxomas are non-neoplastic growths mimicking embryogenesis.
December 2022 in “Nepal Journal of Obstetrics and Gynaecology” The most common form of PCOS in the group was anovulatory PCOS, with no cases of obese PCOS, highlighting the importance of assessing lean women with menstrual issues.
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.
28 citations
,
July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
September 2024 in “The Journal of Dermatology” Nevus comedonicus can sometimes grow terminal hair, challenging previous beliefs.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
14 citations
,
January 2014 in “Annals of Dermatology” Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
56 citations
,
October 2010 in “Pediatric Clinics of North America” Epidermal nevi are skin cell clusters linked to various syndromes.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
13 citations
,
October 2013 in “The Journal of Dermatology” Cepharanthine may help hair growth by increasing IGF-I in scalp cells.
4 citations
,
June 2005 in “British Journal of Dermatology” People often underestimate hair loss severity, with fewer seeking treatment, and it's more distressing for women.
1 citations
,
August 2023 in “South Asian Research Journal of Pharmaceutical Sciences” Fetuin A levels are higher in PCOS patients, while asprosin levels show no difference.
April 2025 in “Otorhinolaryngology Clinics - An International Journal” Histopathological examination is crucial to avoid misdiagnosis and ensure proper treatment for skin lesions.