2 citations
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November 2014 in “International Scholarly Research Notices” The terpenoid fraction may cause thicker scars by delaying wound healing.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
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.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
19 citations
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March 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Trichodysplasia spinulosa is a rare skin disease in immunocompromised patients caused by a specific virus targeting hair follicle cells.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
10 citations
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January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
2 citations
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September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
7 citations
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November 1997 in “Pediatric Dermatology” Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
9 citations
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December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
29 citations
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January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
18 citations
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February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
1 citations
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April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
November 2023 in “International surgery journal” A man's neck lump was a trichilemmal cyst, not cancer, and should be fully removed due to rare risk of becoming malignant.
July 2025 in “Pediatric Transplantation” A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
April 2026 in “Reviews in Medical Virology” Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.
April 2023 in “The Medical Journal of Australia” A five-year-old girl has a harmless, unchanging bald patch on her scalp.