9 citations
,
January 2013 in “Acta dermato-venereologica” The conclusion is that "trichoknesis" should be recognized as a separate condition from trichodynia, characterized by itching instead of pain.
3 citations
,
March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
32 citations
,
June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
55 citations
,
May 2007 in “Australasian journal of dermatology” Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
18 citations
,
January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
Gene editing holds promise for skin treatments but needs careful safety and ethical consideration.
January 2017 in “Dermatology Review” Skin issues from chronic graft-versus-host disease greatly affect daily life, needing teamwork between blood and skin doctors.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
November 2025 in “Frontiers in Oral Health” Accurate diagnosis and management of rare genian fistulas require combined clinical, radiologic, and histopathologic evaluations.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
17 citations
,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
2 citations
,
May 2022 in “Ukraïnsʹkij žurnal medicini bìologìï ta sportu” Disruptions in skin microbiome can lead to seborrheic dermatitis.
81 citations
,
February 2014 in “EMBO molecular medicine” Activating Nrf2 in skin cells causes skin disease similar to chloracne in mice.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
7 citations
,
April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
September 2024 in “Journal of Medical Case Reports” People with keratosis pilaris might be more likely to get a rare type of tinea versicolor.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
5 citations
,
January 1981 Keratin proteins in hair are complex and come from multiple gene families.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
January 2018 in “Advances in Dermatology and Allergology” Treatment with dapsone, topical corticosteroids, and antibiotics improved the man's skin conditions.
May 2021 in “Dermatopathology” The review emphasizes the need to recognize skin conditions that affect hair follicles and sweat glands to avoid misdiagnosis.
January 2014 in “Elsevier eBooks” The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
June 2018 in “CRC Press eBooks” Foals can have various skin issues, some genetic, immune-related, or due to infections and allergies.