November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
September 2025 in “Animals” Key circRNAs play a role in wool follicle development, aiding in breeding better quality wool sheep.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
6 citations
,
December 2018 in “The American Journal of Dermatopathology” Early shedding of the inner root sheath in noninflamed hair follicles is a relatively specific sign of Central Centrifugal Cicatricial Alopecia.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
29 citations
,
January 2016 in “International Journal of Dermatology” Longer hair loss leads to more severe CCCA; early treatment and avoiding damaging hairstyles help regrowth.
5 citations
,
September 2017 in “Medicine” A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.
December 2004 in “PLoS ONE” The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
10 citations
,
December 2015 in “International Journal of Molecular Sciences” PDCD4 is important for controlling skin cell growth and healing.
June 2023 in “International Journal of Research in Dermatology” Certain gene variations are linked to severe acne in Egyptian patients and could guide treatment choices.
9 citations
,
December 2022 in “Genes” CNVs influence hair length in Tianzhu white yaks.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
2 citations
,
June 2012 in “PubMed” The document concludes that central centrifugal cicatricial alopecia (CCCA) should be considered in African American men with vertex hair loss and scalp symptoms, and that prompt diagnosis and treatment can slow disease progression.
78 citations
,
October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
The study found genetic variations in sheep that affect traits like milk production, growth, and health.
2 citations
,
September 2020 in “International Journal of Molecular Sciences” Removing certain hair follicle stem cells worsens skin reactions to allergens.
6 citations
,
December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
26 citations
,
July 2016 in “PLOS ONE” Activating β-catenin in certain skin cells speeds up hair growth in mice.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
87 citations
,
March 2007 in “Biological Chemistry” Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
1 citations
,
May 2025 in “BMC Genomics” lncRNAs may help control cashmere goat hair growth by responding to light changes.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
January 2026 in “Applied Sciences” Cyclic ADP-ribose helps regulate calcium and signals that promote hair growth in hair follicle cells.
7 citations
,
September 2022 in “International journal of molecular sciences” The research found that the molecule lncRNA-H19 helps hair follicle cells grow by affecting certain cell pathways in cashmere goats.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
5 citations
,
January 2024 in “JID Innovations” CCCA involves immune response and metabolism issues, suggesting new treatment options.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.