62 citations
,
March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
May 2024 in “Rossijskaâ oftalʹmologiâ onlajn” Early treatment with corticosteroids improved her eye condition significantly.
Certain skin and family history markers predict vitiligo severity and treatment needs.
21 citations
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January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
21 citations
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January 2005 in “Pediatric Dermatology” An 8-year-old girl with vitiligo developed extra hair growth on her knee after using tacrolimus ointment.
17 citations
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June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
8 citations
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December 2017 in “Small Ruminant Research” Variation in the TCHH gene affects wool curliness in sheep.
3 citations
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August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
April 2018 in “Journal of Investigative Dermatology” The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
3 citations
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May 2018 in “European Journal of Dermatology” Photodynamic therapy may not work for erythroplasia of Queyrat and could lead to invasive squamous cell carcinoma.
3 citations
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April 2021 in “Biomolecules & Therapeutics” The protein ER71/ETV2 helps regrow hair after chemotherapy by improving the growth of new blood vessels.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
11 citations
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May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
January 2016 in “Memorial University Research Repository (Memorial University)” Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
July 2023 in “The Keio Journal of Medicine” Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
3 citations
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March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
March 2012 in “Journal of The American Academy of Dermatology” A 7-year-old boy's unusual hair loss was caused by a herpes infection and healed after treatment.
14 citations
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
6 citations
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January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
23 citations
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April 1993 in “Gastroenterology” A mother and son both had ulcerative colitis and alopecia, suggesting a genetic link in autoimmune disorders and successful treatment with cyclosporine.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
January 2024 in “Brazilian Journal of Veterinary Pathology” The horse had a rare disease causing weight loss and skin issues, leading to euthanasia due to poor treatment options.