2 citations
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January 2006 in “Technical report” The document concludes that better tools are needed to measure skin disease severity in dermatomyositis and cutaneous lupus erythematosus, and introduces the DSSI and CLASI as reliable instruments.
March 2009 in “Encyclopedia of Life Sciences” Mutations in keratin genes cause skin disorders, but new treatments show promise.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
69 citations
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January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
5 citations
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November 2015 in “International Journal of Dermatology”
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
April 2018 in “Journal of Investigative Dermatology” The conclusion introduces a new way to classify skin cysts using their shape and genetic markers.
1 citations
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March 2022 in “Frontiers in Medicine” Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.
2 citations
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January 2014 in “Indian Journal of Critical Care Medicine” Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
1 citations
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September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
18 citations
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September 2017 in “Clinics in Dermatology” Obesity is linked to various skin disorders, which can help with early diagnosis and prevention of long-term health issues.
April 2023 in “Journal of Investigative Dermatology” Interface dermatitis is the most common skin change in drug-induced hypersensitivity syndrome.
1 citations
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October 2024 in “Veterinary Dermatology” A Cavalier King Charles Spaniel had both uveodermatological syndrome and alopecia areata, and treatment with ciclosporin helped regrow hair.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
January 2025 in “Indian Dermatology Online Journal” Hydroxychloroquine may cause nail discoloration in lupus patients.
76 citations
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December 1987 in “International Journal of Dermatology” AIDS patients often have specific skin conditions that help in early diagnosis and management.
October 2025 in “Dermatology and Therapy” Recognizing and treating related skin conditions can improve atopic dermatitis management.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
1 citations
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November 2015 in “Journal of Evolution of Medical and Dental Sciences” Certain skin symptoms can help detect and manage systemic lupus.
April 2026 in “Case Reports in Dermatology” Tofacitinib effectively treated a woman's complex autoimmune and autoinflammatory disorders.
5 citations
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January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
2 citations
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August 2022 in “Federal Practitioner” A severe medication reaction required long treatment and led to hair loss and thyroid issues.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
33 citations
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April 2002 in “Journal of Cutaneous Medicine and Surgery” Eating disorders can cause skin problems that need treating the underlying condition for better health.
Mutations in specific genes cause different types of ectodermal dysplasias.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
January 2012 in “Springer eBooks” Lupus can cause different skin problems, and treatments like quitting smoking and using certain creams or medicines can help.
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.