13 citations
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January 2011 in “International Journal of Trichology” CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
77 citations
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January 1989 in “Clinical Infectious Diseases” Toxic Shock Syndrome progresses quickly, often involves multiple organs, and is linked to Staphylococcus aureus toxins, with treatment options available but diagnostic challenges remaining.
March 2026 in “Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì” Early diagnosis, genetic testing, and personalized care are essential for managing tuberous sclerosis.
May 2012 in “Research and reports in neonatology” The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
17 citations
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May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
71 citations
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January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
April 2024 in “Indian dermatology online journal” A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
2 citations
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August 2020 in “CRC Press eBooks” Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
Early detection and treatment of hair-thread tourniquet syndrome in young girls is important to prevent serious harm.
16 citations
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March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
January 2020 in “Przegla̧d dermatologiczny” A 5-year-old boy was diagnosed with congenital triangular alopecia, a type of hair loss without skin changes, usually starting between ages 2-5, with no specific treatment.
30 citations
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August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
144 citations
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May 1990 in “Journal of the American Academy of Dermatology” 8 citations
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July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
December 2019 in “Journal of pediatrics & neonatology” A 13-year-old boy had a rare, stable type of hair loss with little chance of regrowth, but treatment is available for looks.
October 2025 in “Indian Journal of Paediatric Dermatology” Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
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 2024 in “Chemical Senses” Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
April 2023 in “The Medical Journal of Australia” A five-year-old girl has a harmless, unchanging bald patch on her scalp.