April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
1 citations
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November 1988 in “Veterinary Record” Folic acid helped a calf regrow hair lost due to deficiency.
21 citations
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March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
1 citations
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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
February 2026 in “International Journal of Clinical Dermatology” A multi-drug treatment can effectively clear extensive calcinosis in juvenile dermatomyositis.
11 citations
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May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
4 citations
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May 2023 in “Pigment Cell & Melanoma Research” BMI1 is essential for preventing hair greying and maintaining hair color.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
26 citations
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June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
4 citations
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April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
1 citations
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September 2017 in “BMJ” The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
October 2022 in “International journal of dermatology and venereology” A woman's sudden hair loss was linked to azathioprine use despite normal enzyme levels, and improved after stopping the drug and starting treatment.
158 citations
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December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
1 citations
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August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
6 citations
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June 1986 in “The Journal of Dermatology” Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
66 citations
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January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
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.
December 2021 in “Research Square (Research Square)” M-CSF-stimulated myeloid cells can cause alopecia areata in mice.
26 citations
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May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
23 citations
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
3 citations
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January 2011 in “American Journal of Hematology” Immunochemotherapy successfully treated neutropenia in a patient with Waldenström's macroglobulinemia.
41 citations
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July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Mitochondrial dysfunction may contribute to chronic inflammation and immune system issues in Lichen planopilaris.
51 citations
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May 1984 in “Journal of the American Academy of Dermatology” Benign follicular mucinosis involves immune cells attacking hair follicles.