1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
April 2019 in “Journal of Investigative Dermatology” Targeting immune pathways like JAK/STAT may help treat frontal fibrosing alopecia.
6 citations
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January 2019 in “Medical Hypotheses” Frontal Fibrosing Alopecia might be an autoimmune disease.
2 citations
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October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
May 2025 in “Skin Appendage Disorders” Frontal fibrosing alopecia can be diagnosed by examining facial areas and treated with specific medications to stop its progression.
August 2025 in “Brazilian Journal of Hair Health” Hair-related body dysmorphic disorder is common in hair loss patients and needs early recognition for proper treatment.
1 citations
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March 2006 in “Journal of Cosmetic Dermatology” The woman's forehead lesion was caused by ointment use and resolved with treatment.
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.
29 citations
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January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
October 2025 in “Pediatric Dermatology” A 16-year-old boy's facial condition improved with doxycycline, suggesting an immune response to hair follicle damage.
31 citations
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August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
17 citations
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May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
Early diagnosis and treatment of frontal fibrosing alopecia are crucial to prevent permanent hair loss.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
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.
1 citations
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January 2022 in “Skin appendage disorders” DCPA is a chronic skin condition affecting the legs, often misdiagnosed, and needs more research for better understanding and treatment.
6 citations
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June 2019 in “International Journal of Dermatology” Frontal fibrosing alopecia has occurred in two related male families.
January 2016 in “Indian dermatology online journal” The patient has frontal fibrosing alopecia (FFA).
13 citations
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August 2013 in “International Journal of Dermatology” Frontal fibrosing alopecia can affect African men and may be underdiagnosed.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
September 2023 in “Clinical anatomy” Forehead creases are formed by a tight connection between the skin and muscle through dense fibers, with changes in skin thickness and fewer skin appendages near the creases.
9 citations
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August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
2 citations
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December 2008 in “Clinical and Experimental Dermatology” A small forehead lesion led to the discovery of a significant brain arteriovenous malformation in a young girl.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.