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 2013 in “British Journal of Dermatology” Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
26 citations
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April 1996 in “Journal of Investigative Dermatology” 189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
14 citations
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June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
November 2012 in “Transplantation” Large corneum layer cells can cover wounds effectively.
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.
May 2025 in “International Journal of Trichology” Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
5 citations
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January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Congenital atrichia with papular lesions causes permanent hair loss in children.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
3 citations
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July 2018 in “Elsevier eBooks” Erosive pustular dermatosis of the scalp is a rare condition that causes scarring hair loss, mainly in older women, and requires ongoing treatment.
1 citations
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March 2006 in “Journal of Cosmetic Dermatology” The woman's forehead lesion was caused by ointment use and resolved with treatment.
18 citations
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May 2006 in “Journal of Cutaneous Medicine and Surgery” Linear lichen planopilaris can affect the trunk, not just the face.
August 1993 in “Journal of Dermatological Science”
Brazilian keratin treatment can cause skin reactions like eczema.
December 2005 in “Journal of the American Academy of Physician Assistants” The woman was diagnosed with lichen planopilaris and can be treated with corticosteroids.
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
10 citations
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July 1984 in “British Journal of Dermatology” Epidermal cysts come from the skin, while pilar cysts come from hair follicles.
7 citations
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March 2020 in “Journal of the American Academy of Dermatology” EGFR inhibitors often cause dry, brittle hair and eyebrow/eyelash changes.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
7 citations
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May 1988 in “International Journal of Dermatology” The patient's hair has unique structural differences with alternating bright and dark bands.
2 citations
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April 2018 in “International Journal of Research in Dermatology” Linear skin conditions are rare, more common in females, and often misdiagnosed without tissue analysis.
April 2011 in “www.virtualization.info” Early diagnosis of trachyonychia improves treatment and reduces psychological and cosmetic issues.
2 citations
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February 2021 in “Journal of comparative pathology” Sheep with chronic Sarcoptes scabiei dermatitis have altered keratin expression in their skin.
A 21-year-old with lichen planopilaris was successfully treated, stopping disease progression and preventing crusts.
4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.