10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
13 citations
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January 2013 in “Molecular genetics and metabolism” Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
40 citations
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May 2010 in “American Journal of Clinical Dermatology” AKN might be a skin marker for metabolic syndrome.
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.
January 2011 in “Journal of The American Academy of Dermatology” Two patients had a rare combination of red skin spots and white scaly skin lesions not on the genitals.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
21 citations
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October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
September 2022 in “JAMC. Journal of Ayub Medical College, Abbotabad, Pakistan/Journal of Ayub Medical College” A boy with a rare skin condition improved quickly after starting zinc supplements.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
3 citations
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
5 citations
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January 2021 in “Indian Journal of Pharmacology” Nilotinib can cause generalized keratosis pilaris.
1 citations
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October 2012 in “The Journal of Dermatology” A Korean girl developed kinky hair without known cause or effective treatment.
2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
32 citations
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September 2015 in “Dermatology” Certain leukemia drugs can cause severe skin reactions that may require stopping treatment.
January 2020 in “Turkish Journal of Dermatology” Zinc deficiency was the real cause of the boy's symptoms, not a skin infection.
9 citations
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February 2023 in “Medicine” Traditional Chinese medicine may help relieve symptoms of Cronkhite-Canada syndrome.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
34 citations
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December 2011 in “The Journal of Dermatology” A unique type of lupus panniculitis causes reversible hair loss on the scalp in East Asians.
May 2025 in “The Journal of Rheumatology” Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
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.
October 2023 in “European Journal of Dermatology” Combining hair transplantation with PRP is more effective for treating hair loss than hair transplantation alone.
10 citations
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July 2014 in “Annals of Saudi Medicine” A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.