36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
January 2026 in “Contemporary Clinical Dentistry” VKHD can include rare oral symptoms like discolored teeth.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
3 citations
,
January 2004 in “Journal of Wildlife Diseases” A deer fawn in South Dakota was the first cervid found with congenital hypotrichosis, a condition causing sparse or missing hair.
5 citations
,
June 2014 in “Der Hautarzt” Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
33 citations
,
August 2000 in “Experimental Cell Research” April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
February 2020 in “International Journal of Research in Dermatology” EPDS is a rare, chronic scalp condition that's hard to treat and needs better awareness for improved outcomes.
16 citations
,
January 2005 in “The International Journal of Developmental Biology” Hex gene plays a crucial role in starting feather development in chick embryos.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
114 citations
,
May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
3 citations
,
August 2024 in “Dermatology and Therapy” Gene and cell therapies are being developed to treat rare skin conditions like epidermolysis bullosa and ichthyosis.
December 1981 in “Pediatric Research”
Vogt–Koyanagi–Harada disease can cause rare hair growth on normally hairless thumb skin.
July 2024 in “LA CIENCIA AL SERVICIO DE LA SALUD Y NUTRICIÓN” The condition is harmless, doesn't worsen, and needs no invasive treatment.
79 citations
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February 2009 in “Human Genetics” 22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
July 2019 in “Indian dermatology online journal” Alopecia areata can show unusual red-dotted vessels and dithranol treatment may mask typical patterns.
3 citations
,
August 2010 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
4 citations
,
December 2014 in “Indian Journal of Dermatology” A rare skin condition with cysts was found on a 5-year-old boy's scalp.
12 citations
,
June 2009 in “Journal of Cosmetic Dermatology” Loose Anagen Hair syndrome occurs in dark-skinned children and often improves on its own.
November 2024 in “NeoReviews” An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
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.
6 citations
,
January 2019 in “Journal of feline medicine and surgery open reports” A cat with severe skin issues improved with dexamethasone and cetirizine.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
13 citations
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June 2020 in “International Journal of Dermatology” A rare scalp condition mainly in older women can be treated with various alternatives to steroids, which may have fewer side effects.
30 citations
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June 2015 in “Dermatologic Surgery” Ultrasound shows 80% of Hidradenitis Suppurativa patients have abnormal hair tracts that may worsen the condition.