4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
60 citations
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August 2009 in “Journal of the American Academy of Dermatology” The term "porokeratotic adnexal ostial nevus" is proposed to unify overlapping skin conditions involving eccrine and hair follicles.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
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.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
3 citations
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December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
26 citations
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September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
June 2018 in “Chinese Journal of Dermatology” Connective tissue nevi have distinct features, and reflectance confocal microscopy is useful for early diagnosis.
April 1977 in “Pediatric Research” 21 citations
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August 2002 in “British Journal of Ophthalmology”
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
55 citations
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May 1985 in “Archives of Dermatology” Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
67 citations
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August 2007 in “American Journal of Pathology” Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
8 citations
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August 2019 in “JAAD case reports” Chronic cutaneous lupus erythematosus causes scarring, hair loss, and skin discoloration, especially on sun-exposed areas.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
30 citations
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February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
20 citations
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January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
7 citations
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April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
The study concludes that Twenty-nail dystrophy is more common in boys among children and in women among adults, with varying response to treatment.
June 2023 in “Medeniyet medical journal” People with alopecia areata have similar retinal structures but thicker choroidal regions compared to those without the condition.
1 citations
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June 2014 in “Serbian Journal of Dermatology and Venereology” A woman with discoid lupus improved with treatment after being misdiagnosed with a different hair loss condition.
372 citations
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December 2004 in “Nature Genetics” 21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
37 citations
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January 2023 in “Ophthalmology and Therapy” Low-level red light therapy can shorten eye length in some myopic children.
21 citations
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April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.