18 citations
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May 1988 in “Journal of The American Academy of Dermatology” Itraconazole helps improve tough skin infections but may not prevent them from coming back.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
May 2024 in “International journal of medicine and psychology.” Ganser syndrome may result from both organic and psychogenic factors.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
31 citations
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January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” Fatty acid transport protein 4 is essential for skin and hair development.
332 citations
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June 1994 in “Archives of Dermatology” Postmenopausal frontal fibrosing alopecia may be a unique condition linked to postmenopausal changes.
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
January 2022 in “Дерматологія та венерологія” Frontal fibrosing alopecia causes hair loss along the frontal hairline, mainly in postmenopausal women, and needs better treatments.
5 citations
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November 1979 in “Archives of dermatology” Tretinoin cream successfully treated a woman's skin condition called Fox-Fordyce disease.
A 32-year-old man with early graying hair shows a unique pattern, suggesting more research is needed on why hair grays early.
2 citations
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September 2007 in “International Journal of Impotence Research” Local testosterone treatment improved sexual desire in a female with fragile X syndrome.
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.
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January 2014 in “Indian journal of dermatology, venereology, and leprology” The symptoms described align more with Haberland syndrome, not Delleman-Oorthuys syndrome.
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November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
February 2013 in “Journal of the American Academy of Dermatology”
102 citations
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April 2014 in “International Journal of Dermatology” The treatment helped reduce symptoms and stabilize the hairline in most patients with Frontal Fibrosing Alopecia, but hair regrowth was limited.
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September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
April 2012 in “Informa Healthcare eBooks” Fibrosing alopecia in a pattern distribution is a unique hair loss condition with inflammation and scarring, resembling but distinct from common balding.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
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December 2017 in “Journal of the American Academy of Dermatology” Most patients with frontal fibrosing alopecia stabilized with treatment, especially younger ones, using intralesional corticosteroids and tacrolimus.
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January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
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January 2006 in “Biological & Pharmaceutical Bulletin” Androgen hormones cause hair follicle scarring in hair loss, and finasteride helps reduce it.
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
125 citations
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February 2007 in “The EMBO Journal” Fgfr2b helps maintain healthy skin and prevent cancer.
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
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January 2022 in “Springer eBooks”