The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
19 citations
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August 2020 in “Gastroenterology report” There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
1 citations
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October 2021 in “Australasian Journal of Dermatology” The document's conclusion cannot be provided because the document is not available or cannot be understood.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
1 citations
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July 2021 in “International Journal of Cosmetics and Dermatology” Vitiligo often runs in families and is linked to genetics and autoimmune factors.
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.
2 citations
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November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
40 citations
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July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
2 citations
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August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
14 citations
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July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
23 citations
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January 1964 in “Archives of Dermatology” Treatment with vitamin A did not improve the child's skin condition.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
1 citations
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January 2012 in “Juntendō Igaku/Juntendo igaku” A simple classification based on symptoms helps diagnose and treat inherited skin disorders in Japan.
January 1994 in “Journal of Dermatological Treatment” Spironolactone helped reduce excessive facial hair in a woman with porphyria cutanea tarda.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
1 citations
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January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.