9 citations
,
August 2002 in “Current Opinion in Pediatrics” An 18-year-old girl with pemphigus vulgaris needed strong medication and careful treatment due to ineffective initial therapies and side effects.
2 citations
,
March 1994 in “Journal of the European Academy of Dermatology and Venereology” White piedra can be effectively treated with 2% miconazole nitrate lotion.
19 citations
,
December 1999 in “International Journal of Dermatology” Dihydroxyacetone in self-tanning lotion helped reduce sun-related skin issues in a woman with variegate porphyria.
January 2018 in “Springer eBooks” PDE inhibitors, especially PDE4 inhibitors like apremilast, are effective for certain inflammatory skin conditions but have side effects and can be costly.
6 citations
,
January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
April 2026 in “Diagnostics” Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
19 citations
,
April 2016 in “Case Reports in Dermatology” Nilotinib can cause keratosis pilaris, a skin condition.
December 2024 in “Annals of Medicine and Surgery” Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
1 citations
,
September 2007 in “European journal of paediatric neurology” Low dose valproic acid treatment caused hair loss in a young patient.
October 2023 in “Journal of the Endocrine Society” A woman's cyclic Cushing syndrome was caused by a tumor in her adrenal gland that produced ACTH.
February 2026 in “Biomedicine & Pharmacotherapy” MLPH helps hair grow by activating IGF-1 signaling in hair cells.
1 citations
,
August 2023 in “Diagnostics” Women with PCOS are more likely to develop kidney stones, especially those with certain PCOS types.
March 2026 in “Bioconjugate Chemistry” Peptide-based PROTACs show promise in targeting hard-to-treat proteins, especially for cancer therapy.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
1 citations
,
March 2023 in “Science Translational Medicine” Blocking a certain signal in the gp130 receptor can improve tissue healing and lessen osteoarthritis symptoms.
6 citations
,
February 2019 in “JAAD case reports” Acitretin helped improve hand mobility and skin condition in a patient.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
14 citations
,
August 2006 in “Clinical and Experimental Dermatology” A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
11 citations
,
October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
1 citations
,
October 2014 in “Journal of the American Geriatrics Society” Elderly patients with frailty should be checked for hypopituitarism, as treatment can greatly improve their health and lifespan.
23 citations
,
May 2017 in “Journal of the American Academy of Dermatology” FFA patients have fewer melanocytes and thinner skin compared to others.
5 citations
,
June 2015 in “British Journal of Dermatology” A certain medication improved severe itching in a boy with liver and bowel disease by reducing histamine levels, suggesting a new treatment target.
11 citations
,
October 2018 in “Hormone and Metabolic Research” Women with PCOS have similar bone density to healthy women, but those who are obese have higher bone density at some body sites.
March 2021 in “Research Square (Research Square)” Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
April 2017 in “Journal of Investigative Dermatology” The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
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.
March 2019 in “eCommons (Cornell University)” The pony's skin condition improved significantly with prednisolone treatment.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.