27 citations
,
December 2005 in “Journal of Cutaneous Pathology” The malignant pilomatricoma showed strong epithelial keratin expression, suggesting it may not calcify.
19 citations
,
November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
32 citations
,
August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
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.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
21 citations
,
January 2010 in “International journal of trichology” Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
5 citations
,
August 2021 in “Experimental dermatology” Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
December 2025 in “Pediatric Dermatology” Trametinib can cause skin issues, but they can often be managed without stopping the drug.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
4 citations
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March 2003 in “International Journal of Dermatology” Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
33 citations
,
September 1987 in “American Journal of Medical Genetics” Uncombable hair is inherited dominantly with complete penetrance.
April 2025 in “Dermatology Practical & Conceptual” UV-enhanced trichoscopy helps diagnose hair shaft disorders like pili annulati.
August 2024 in “Clinical Case Reports” Pilomatricoma is a rare, benign skin tumor that requires surgical removal for best results.
2 citations
,
August 2008 in “Journal of Liaquat University of Medical & Health Sciences” A painless cheek lump was misdiagnosed but found to be a rare, benign skin lesion called pilomatrixoma, treatable by surgery.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
26 citations
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May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
39 citations
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June 1982 in “The BMJ” Blood tests confirmed a baby in the womb had a CMV infection.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
December 2021 in “Pathologica” Trichogerminoma is a rare, benign skin tumor from hair cells, with a small risk of becoming cancerous.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
12 citations
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October 2006 Matriptase imbalance contributes to cancer development and spread.