The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
53 citations
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June 1983 in “Journal of Investigative Dermatology” The enzyme is crucial for skin cell development and can be activated without proteolytic activation.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
4 citations
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September 2021 in “Dermatopathology” The conclusion is that Erosive Pustular Dermatosis of the Scalp is a rare condition best treated with strong topical steroids and sometimes systemic treatment.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
7 citations
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January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
51 citations
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November 2011 in “British Journal of Dermatology” A gene called HDAC9 might be a new factor in male-pattern baldness.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
January 2019 in “Przegląd Dermatologiczny” An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
5 citations
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November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
14 citations
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May 2022 in “Stem cell reports” The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.
3 citations
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August 1988 in “PubMed” 144 citations
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May 1990 in “Journal of the American Academy of Dermatology” 22 citations
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January 1999 in “Dermatology” The condition might be caused by genetic changes after birth.
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
January 2025 in “Journal of Clinical Case Studies” Undiagnosed Marfan syndrome can lead to serious health issues, so genetic counseling and avoiding heavy lifting are crucial.
4 citations
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May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” ELL is crucial for gene transcription related to skin cell growth.
1 citations
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November 2023 in “Contact dermatitis” Some people with Frontal Fibrosing Alopecia may be allergic to a common sunscreen ingredient.
August 2014 in “Springer eBooks” Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
19 citations
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May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
1 citations
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September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
2 citations
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June 2021 in “PubMed” Chronic scalp lesions with crusts and pus indicate Erosive Pustular Dermatosis, which is confirmed by biopsy and effectively treated with strong topical steroids.