June 2024 in “Annals of Medicine and Surgery” A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
12 citations
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January 2005 in “Pediatric Dermatology” Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
November 2022 in “Journal of Investigative Dermatology” Most patients with blistering skin disorders in South India had bullous pemphigoid and often had other conditions like hypertension and diabetes.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
9 citations
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October 2015 in “Postgraduate Medical Journal” Scurvy can cause skin issues and is treatable with vitamin C.
29 citations
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December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
13 citations
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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.
7 citations
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March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
April 2010 in “Cancer Research” Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
13 citations
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July 2014 in “The Journal of Dermatology” Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
7 citations
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January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
8 citations
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December 2006 in “Journal of Vascular Surgery” Foam sclerotherapy for varicose veins may cause unexpected hair growth.
22 citations
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August 2013 in “Experimental Dermatology” EGFR hyperactivation increases sebaceous gland size and sebum production in mice.
November 2020 in “Research Square (Research Square)” Chronic scarring alopecia is common in SLE patients and needs early detection and management.
3 citations
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January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
January 1982 in “Japanese Journal of Clinical Immunology” Soft-tissue calcification is rare in systemic lupus erythematosus.
February 2023 in “Journal of Cutaneous Pathology” 11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
April 2024 in “Current Rheumatology Reviews” MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
7 citations
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January 2012 in “International Journal of Trichology” A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
23 citations
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January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
80 citations
,
June 1997 in “The American Journal of Human Genetics” 142 citations
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August 2015 in “Arthritis & Rheumatology” Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
5 citations
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May 2019 in “Anais Brasileiros de Dermatologia” Finger length ratios might predict risk for skin condition in males.