3 citations
,
May 2017 in “BMJ Case Reports” A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
May 2023 in “Dermatology Reports” The study found that skin conditions in COVID-19 patients can signal serious internal organ damage and may be life-threatening.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
Early diagnosis and treatment are crucial for skin emergencies and drug reactions.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
49 citations
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January 2013 in “Dermatologic Therapy” Newborns with ichthyosis need specific care based on their skin type.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
29 citations
,
June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
4 citations
,
April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
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.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
28 citations
,
April 1996 in “Cell biology international” Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
7 citations
,
July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
October 2025 in “Indian Journal of Paediatric Dermatology” Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
12 citations
,
October 1978 in “PubMed” Ro 10-9359 is an effective treatment for severe psoriasis but can cause side effects.
3 citations
,
January 2010 in “Elsevier eBooks” The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
2 citations
,
January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
January 2013 in “프로그램북(구 초록집)” Systemic agents like cyclosporine, methotrexate, and acitretin help manage psoriasis but have significant side effects.
3 citations
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July 2004 in “SKINmed/Skinmed” A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
2 citations
,
October 1974 in “Archives of Dermatology” The woman's skin condition persisted for 20 years despite treatments.
10 citations
,
November 2017 in “Skin Appendage Disorders” Erosive pustular dermatosis in elderly people may be linked to aging immune systems and skin damage.
2 citations
,
July 2022 in “Dermatology Reports” EPDS and MS might share an immune-related cause.
13 citations
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September 2019 in “Clinical, Cosmetic and Investigational Dermatology” Early treatment of EPDS can improve outcomes and reduce recurrence risk.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
8 citations
,
January 2019 in “JAAD Case Reports” EPDS can cause recurring scalp sores and hair loss if not treated.