April 2023 in “Journal of Investigative Dermatology” Defective T cell metabolism can cause early skin aging and poor hair follicle stem cell function.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
23 citations
,
April 2021 in “Journal of Clinical Medicine” Frontal Fibrosing Alopecia's cause is unclear, affects mainly postmenopausal women, and current treatments focus on stopping hair loss rather than regrowth.
8 citations
,
January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
33 citations
,
January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
87 citations
,
January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
28 citations
,
July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
February 2018 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Ferroportin in macrophages is crucial for hair growth and skin healing by managing iron distribution.
September 2023 in “Journal of the American Academy of Dermatology” Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
4 citations
,
January 2020 in “Skin appendage disorders” A woman with an unusual pattern of hair loss was confirmed to have Frontal Fibrosing Alopecia and treated with specific medications.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
1 citations
,
March 2012 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Dermoscopy helps diagnose frontal fibrosing alopecia by identifying specific scalp features.
40 citations
,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
December 2022 in “Zenodo (CERN European Organization for Nuclear Research)” Tofacitinib effectively treated severe alopecia areata in a 14-year-old girl.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
6 citations
,
May 2013 in “PloS one” The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
May 2023 in “Frontiers in Endocrinology” Blocking CRF1 receptors improved male hormone levels and reduced testicular tumor size in men with a specific adrenal condition.
6 citations
,
August 2022 in “Science immunology” Foxn1 gene regulation is crucial for thymus development but not for hair growth.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
26 citations
,
January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
7 citations
,
October 2022 in “Development” Overactive Wnt5a disrupts hair follicle orientation in mice.
5 citations
,
January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
March 2018 in “Gazi medical journal” Adults with Beta Thalassemia Major are more likely to have skin, hair, and nail disorders.
August 2019 in “Journal of Invertebrate Pathology” Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
6 citations
,
January 2025 in “Differentiation” WNT10A is important for tissue development and linked to various human disorders.
103 citations
,
July 2001 in “Proceedings of the National Academy of Sciences” TGFβ1 expression in skin causes hair loss and skin thickening, but these effects are reversible.