April 2023 in “Journal of Investigative Dermatology” Chronic graft-versus-host disease in the skin shows strong Th1 immune response and unique barrier issues.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
5 citations
,
November 2017 in “Dermatologica Sinica” Transverse scalp biopsies are more accurate for diagnosing non-cicatricial alopecia, but examining both types is best for accuracy.
3 citations
,
June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
September 2018 in “Dermatologic Surgery” 8 citations
,
January 2022 in “Current topics in developmental biology/Current Topics in Developmental Biology” Lhx2 helps retinal cells respond to signals for eye development.
7 citations
,
July 2006 in “Journal of cutaneous pathology” A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
418 citations
,
June 2003 in “Endocrine Reviews” While PCOS might increase the risk of heart disease, there's not strong evidence to prove it causes earlier heart problems.
January 1991 in “Dialnet (Universidad de la Rioja)”
1 citations
,
October 2017 in “Circulation” A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
35 citations
,
August 1980 in “Circulation” Minoxidil may cause heart issues in animals and humans.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
17 citations
,
September 2000 in “Journal of dermatology” A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
Early diagnosis of imperforate hymen is crucial to prevent complications.
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
July 2019 in “Indian dermatology online journal” Alopecia areata can show unusual red-dotted vessels and dithranol treatment may mask typical patterns.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
1 citations
,
January 2019 in “Zenodo (CERN European Organization for Nuclear Research)” Eclipta alba has unique stem, leaf, and root features, including air cavities and secretory structures.
January 2026 in “International Journal of Dermatology” Treatment improved scalp conditions and hair loss with no recurrence after 1 year.
1 citations
,
December 2021 in “Revista Extensão & Cidadania/Revista Extensão e Cidadania” Recurrent dry cough, wheezing, and respiratory discomfort are key symptoms for diagnosing pediatric asthma.
May 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D affects Msx1 protein expression and may influence mineralized tissue health.