July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
1 citations
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February 1991 in “Journal of Biological Chemistry” 34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
4 citations
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September 2024 in “BMC Cancer” Adding dutasteride to therapy may improve treatment for advanced salivary duct cancer.
September 2017 in “Journal of Investigative Dermatology” Stabilizing HIF-1A in hair follicles may reduce oxidative stress and promote hair growth by increasing glycolysis.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
4 citations
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May 2020 in “Journal of the American Academy of Dermatology” HS patients rarely see dermatologists, often get opiates, and need better care.
12 citations
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January 2012 in “Dermatology” Finasteride helped treat a 28-year-old's facial skin condition.
2 citations
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July 2025 in “Chemical Engineering Journal” The hydrogel dressing effectively treats infected wounds by combining infection control and tissue regeneration.
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.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
7 citations
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
January 2004 in “Chinese Journal of Dermatology” Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
July 1999 in “Hair transplant forum international” The document could not be read or understood.
September 2017 in “Hair transplant forum international” The document's conclusion cannot be provided because the content is not available.
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
November 2015 in “Hair transplant forum international” The document's conclusion cannot be provided as the content is not available to parse.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
April 2018 in “Journal of Investigative Dermatology” Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” 17β-estradiol may help hair growth by increasing cannabinoid receptor type 1.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
July 2024 in “Journal of Investigative Dermatology” Squaric acid dibutylester helps hair growth by increasing certain immune cells in the skin.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
The treatment was ineffective in humans.