3 citations
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January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
8 citations
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June 1981 in “Clinica Chimica Acta”
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
21 citations
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December 2014 in “Pediatric Dermatology” Most children with pediatric trachyonychia improve over time, regardless of treatment.
1 citations
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April 2020 in “Asian Journal of Medicine and Biomedicine” A child's toe was saved from a rare condition where hair tightly wrapped around it by performing surgery.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
21 citations
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September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
Trichoepithelioma and desmoplastic trichoepithelioma have distinct features that can be identified using reflectance confocal microscopy.
23 citations
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May 2017 in “Journal of the American Academy of Dermatology” FFA patients have fewer melanocytes and thinner skin compared to others.
5 citations
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March 2023 in “Journal of the European Academy of Dermatology and Venereology” Trichoscopy can help identify systemic diseases, not just hair and scalp issues.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
11 citations
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May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
3 citations
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February 2021 in “Pediatric rheumatology online journal” A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
3 citations
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February 2022 in “Cureus” Frontal fibrosing alopecia can sometimes look like syphilitic hair loss.
13 citations
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January 2018 in “Skin Appendage Disorders” Dermoscopy improves diagnosis and treatment planning for trichostasis spinulosa.
2 citations
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March 2011 in “International Journal of Dermatology” An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
January 2013 in “대한피부과학회지” Gefitinib can cause rare scarring hair loss.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
April 1996 in “Journal of Dermatological Science” 2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
9 citations
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January 2020 in “Postepy Dermatologii I Alergologii” Frontal fibrosing alopecia is a poorly understood condition with increasing cases and unclear treatment effectiveness.
5 citations
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May 2009 in “American Journal of Dermatopathology” A rare hair follicle tumor showed unusual high levels of mucin.
18 citations
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March 2003 in “British journal of dermatology/British journal of dermatology, Supplement” Trichofolliculoma has specific cytokeratin patterns that help in its diagnosis.
3 citations
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January 2024 in “Liver International” Targeting thyroid hormone receptor α in liver cells may help treat liver fibrosis.