May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
34 citations
,
January 1983 in “Journal of Investigative Dermatology” June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
58 citations
,
February 2016 in “Scientific reports” Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
5 citations
,
March 2025 in “Pediatric Dermatology” Alopecia areata in children is caused by the immune system attacking hair follicles due to genetic factors.
6 citations
,
January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
8 citations
,
July 1986 in “International Journal of Dermatology” Eruptive vellus hair cysts are harmless skin bumps that may go away on their own.
11 citations
,
March 2001 in “Clinics in Dermatology” Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
13 citations
,
April 2022 in “Frontiers in oncology” Melanoma development can be linked to the breakdown of skin's melanin-producing units.
2 citations
,
July 2021 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
4 citations
,
July 2019 in “Clinics in Dermatology” The document concludes that while white skin, nail, and mucosa diseases increase skin cancer risk, they are generally harmless, especially compared to darker pigmentation conditions.
1 citations
,
March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
4 citations
,
September 2004 in “Experimental Dermatology” Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
20 citations
,
September 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” MMP-9 is essential for proper hair canal formation.
49 citations
,
August 1999 in “Journal of Investigative Dermatology” Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
4 citations
,
July 2019 in “Clinical and experimental dermatology” Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
20 citations
,
April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
August 2016 in “Journal of Investigative Dermatology” Zinc deficiency disrupts hair growth and cycle, but zinc supplements can fix this.
7 citations
,
November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
47 citations
,
February 2014 in “Journal of Cutaneous Pathology” Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
33 citations
,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.