23 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
4 citations
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January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
November 2023 in “British Journal of Dermatology” Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
July 2024 in “Journal of Investigative Dermatology” 24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
3 citations
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March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
November 2022 in “Journal of the Endocrine Society” An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
1 citations
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November 2022 in “Journal of the Academy of Consultation-Liaison Psychiatry” 175 citations
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August 1997 in “Nature Genetics” 13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
1 citations
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January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
3 citations
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
9 citations
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January 2017 in “Annals of Dermatology” The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
5 citations
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March 2009 in “Pediatric Dermatology” The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
6 citations
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January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
January 1999 in “Journal of Investigative Dermatology” 1 citations
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January 2014 SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.