1 citations
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October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
3 citations
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September 2021 in “Experimental and Therapeutic Medicine” Early diagnosis of Keratosis pilaris atrophicans faciei can lead to better, personalized treatments.
1 citations
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July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
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.
20 citations
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April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
1 citations
,
February 2014 in “Italian journal of medicine” An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
January 2019 in “International Journal of Clinical & Medical Images” The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
April 2014 in “Jurnal Biomedik : JBM” An 8-year-old girl had nail and hair issues that improved without specific treatment, but fungal nail infection was hard to cure.
3 citations
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December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
8 citations
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November 2015 in “The American journal of dermatopathology/American journal of dermatopathology” Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
38 citations
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August 2005 in “Veterinary dermatology” A disease causing skin issues in young adult German short-haired pointers is hereditary, with most affected dogs not responding to treatment.
6 citations
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October 1998 in “PubMed” Antifungal treatment can improve severe skin infections with cutaneous horns.
March 2021 in “Revista da Associação Médica Brasileira”
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
January 2014 in “Redalyc (Universidad Autónoma del Estado de México)” A Persian cat had a rare skin condition that didn't improve with treatment.
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.
5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
2 citations
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May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
88 citations
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March 2004 in “Journal of Investigative Dermatology” 18 citations
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March 1992 in “Archives of Dermatology” The man's scarring alopecia and skin issues did not improve with treatments.
9 citations
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December 2018 in “JAAD case reports” Lipedematous alopecia involves a thickened scalp and hair loss, with limited effective treatments available.
June 2018 in “Journal of the American Veterinary Medical Association” Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
1 citations
,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
54 citations
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January 1983 in “Archives of Dermatology” KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
175 citations
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August 1997 in “Nature Genetics”