38 citations
,
April 2016 in “The Journal of Pathology” Alkaline ceramidase 1 is crucial for healthy skin and energy balance.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
4 citations
,
January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
6 citations
,
June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.
21 citations
,
January 2005 in “Pediatric Dermatology” An 8-year-old girl with vitiligo developed extra hair growth on her knee after using tacrolimus ointment.
77 citations
,
April 1968 in “Development” Excess vitamin A can cause hair follicles to change into gland-like structures.
1 citations
,
March 2024 in “Genes & Diseases” EBF1 controls hair type and length.
2 citations
,
August 2008 in “Journal of Liaquat University of Medical & Health Sciences” A painless cheek lump was misdiagnosed but found to be a rare, benign skin lesion called pilomatrixoma, treatable by surgery.
15 citations
,
August 1991 in “American Journal of Medical Genetics” A special diet can fix hair problems in argininosuccinase deficiency.
May 2022 in “British Journal of Dermatology” The girl's hair condition improved on its own in 24 months.
1 citations
,
July 2009 in “Journal of dermatology” A 29-year-old man had a jaw plaque diagnosed as follicular mucinosis, linked to nestin-positive hair follicle stem cells.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
15 citations
,
February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
11 citations
,
May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
1 citations
,
August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
1 citations
,
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
30 citations
,
May 1980 in “Journal of the American Academy of Dermatology” Alopecia areata can cause spotty white areas on nails.
82 citations
,
March 2012 in “Development” Drosha and Dicer are essential for hair follicle health and preventing DNA damage in skin cells.
5 citations
,
September 2012 in “Journal of Investigative Dermatology” Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
March 2014 in “Journal of the American Academy of Dermatology” Alopecia areata is relatively common in children, has a variable course, and shows different responses to treatment; thyroid testing is recommended for those affected.
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.
December 2022 in “Laboratory Animal Research” Trichoblastomas in aged house musk shrews show unique features and may involve serum amyloid A in inflammation.
17 citations
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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.
January 2024 in “The Indian Veterinary Journal” A young goat with skin issues improved with medication and supplements.