A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
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.
39 citations
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July 2015 in “British Journal of Dermatology” The pseudo 'fringe sign' can also appear in frontal fibrosing alopecia, not just in traction alopecia, showing that this condition may be more common than thought.
10 citations
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November 2007 in “Annals of Diagnostic Pathology” A rare benign tumor with hair follicle features was found on a man's trunk.
10 citations
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January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
14 citations
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January 2010 in “Dermatology” Some people with congenital triangular alopecia have a central tuft of hair in the bald patch, but the cause is unknown.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
23 citations
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March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
264 citations
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October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.
42 citations
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September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
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.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
Trichoscopic examination is crucial for diagnosing congenital triangular alopecia.
January 2023 in “Indian Dermatology Online Journal” A 23-year-old man has a benign, non-progressive hair loss patch that doesn't respond to treatment but can be cosmetically treated.
10 citations
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
15 citations
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April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
28 citations
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July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
1 citations
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January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
29 citations
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February 1989 in “Journal of Cutaneous Pathology” A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
56 citations
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March 2010 in “Journal of Dermatology” Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
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.
16 citations
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May 2017 in “Journal of Clinical Ultrasound” A rare finger tumor was imaged, showing a unique pattern not seen before.