5 citations
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March 2019 in “Scandinavian journal of rheumatology” Doctors should consider comedonic discoid lupus erythematosus to avoid misdiagnosis.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
18 citations
,
June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
12 citations
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May 2009 in “Ophthalmic plastic and reconstructive surgery” Multiple pilomatrixoma may indicate Turner syndrome.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
31 citations
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September 2012 in “Human Brain Mapping” People with Seasonal Affective Disorder have different brain activity in certain areas when resting.
October 2025 in “JMIR Dermatology” Exclamation-mark hairs and yellow dots indicate alopecia areata, while follicular ostia loss and white scarring indicate lichen planopilaris and discoid lupus erythematosus.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
1 citations
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January 2021 in “Arthritis Research & Therapy” About 8% of people with systemic lupus erythematosus have chronic scarring alopecia, with certain symptoms and positive antibodies increasing the risk, while immunosuppressants may lower it.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Desmoglein 3 is important for keeping hair follicle stem cells inactive and maintaining their special properties.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
October 2025 in “Indian Journal of Paediatric Dermatology” The infant's hair loss resolved naturally by 20 months without treatment.
1 citations
,
July 2022 in “BMJ Case Reports” A woman was wrongly diagnosed with lupus but actually had leprosy.
1 citations
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January 2019 in “Dermatology Online Journal” A rare skin condition appeared on a 19-year-old woman's scalp.
March 2020 in “Poster presentations” Accurate diagnosis of SLE requires extensive testing due to its complex symptoms.
15 citations
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April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
28 citations
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June 2007 in “Journal of Cutaneous Pathology” IRS premature desquamation is not unique to CCCA and occurs in various scarring alopecias.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
2 citations
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June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
2 citations
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May 2014 in “Journal of the Egyptian Women's Dermatologic Society (Print)” Dermoscopy helps diagnose different scalp conditions by showing unique signs for each disorder.
January 2012 in “Yearbook of Dermatology and Dermatologic Surgery” The study concluded that a 'Swiss cheese' pattern in hair follicles is a useful sign for diagnosing alopecia areata.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
3 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
5 citations
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March 1943 in “Archives of Dermatology and Syphilology” A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
4 citations
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December 1992 in “The American Journal of Cosmetic Surgery” The modified S pattern for scalp reduction is effective for removing more bald scalp and hiding scars in hair restoration.