7 citations
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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.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Topical Vorinostat shows promise for treating alopecia areata by promoting hair regrowth.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” QMSI is a valuable method for studying drug penetration in skin tissues.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” CD101 is highly effective in treating dermatophytosis in guinea pigs.
1 citations
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May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
13 citations
,
January 2001 in “Pediatric dermatology” A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
71 citations
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May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” TTD hair brittleness is caused by multiple structural abnormalities.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
7 citations
,
February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
32 citations
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June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
1 citations
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October 2022 in “Biomedicines” Prdm1 is necessary for early whisker development in mice but not for other hair, and its absence changes nerve and brain patterns related to whiskers.
April 1977 in “Pediatric Research” 3 citations
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January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
9 citations
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September 2022 in “Journal of Clinical Investigation” Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
September 2023 in “Journal of the American Academy of Dermatology” Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
4 citations
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January 2011 in “European journal of dermatology/EJD. European journal of dermatology” A boy had a rare scalp condition with thickened skin and different-colored hair.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
22 citations
,
May 2005 in “Journal of the European Academy of Dermatology and Venereology” People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
2 citations
,
January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
27 citations
,
June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
34 citations
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January 2008 in “Developmental Biology” 10 citations
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June 1999 in “Veterinary Dermatology” Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
4 citations
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November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
27 citations
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July 2017 in “Scientific Reports” N-WASP is essential for healthy skin and preventing inflammation.