36 citations
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July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
A 14-year-old girl with a condition that makes her hair easy to pull out also has a hair-pulling disorder, and treatment helped but she relapsed after a year.
December 2025 in “Journal of Human Immunity” JAK inhibitors may help improve symptoms in adults with APECED.
21 citations
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January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
March 2022 in “JAAD case reports” A man had a non-cancerous, fast-growing skin lump on his arm that was removed with surgery.
April 2018 in “Journal of Investigative Dermatology” People with palmoplantar pustulosis, especially with bone issues, have different mouth bacteria compared to healthy people.
4 citations
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August 2013 in “Case reports in dermatology” A patient with total hair loss developed vitiligo after using a treatment called DCP.
20 citations
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May 2007 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Etanercept effectively treated a severe skin condition when other treatments failed.
January 2011 in “Journal of The American Academy of Dermatology” Treating generalized granuloma annulare is difficult, with PUVA being the most effective option, but relapses are common.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
16 citations
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March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
December 2024 in “Annals of Medicine and Surgery” Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
3 citations
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
3 citations
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January 2018 in “Skin Appendage Disorders” Nail issues are common in alopecia areata patients.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Tight hairstyles can cause a rare scalp condition with thick skin folds.
4 citations
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May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
4 citations
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October 2015 in “JAAD Case Reports” Surgical grafting may fix nail issues caused by valproic acid.
14 citations
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August 2006 in “Clinical and Experimental Dermatology” A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
1 citations
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January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Abnormal contraction of connective tissue in hair follicles causes hair loss by killing off important cells, and treating this could improve hair growth.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
September 2016 in “Journal of The American Academy of Dermatology” The girl has a genetic hair condition causing thin hair since childhood.
47 citations
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November 1966 in “Archives of Dermatology” Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.