1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
33 citations
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
December 2010 in “Elsevier eBooks” Systemic lupus erythematosus is an autoimmune disease causing diverse symptoms and major organ involvement.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
January 2018 in “Elsevier eBooks” Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
2 citations
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January 2019 in “Case Reports in Dermatology” A 66-year-old woman's thick scalp and hair loss were confirmed as lipedematous alopecia, a rare condition possibly influenced by genetics, with no effective treatment known.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
31 citations
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December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
13 citations
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July 2016 in “Pediatric Dermatology” Loose Anagen Syndrome is more common in females and may be inherited, often confused with other hair disorders, and lacks evidence for biotin treatment effectiveness.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
March 2021 in “Annals of Translational Medicine” Two patients with lupus had an unusual type of hair loss not typical for the disease.
1 citations
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April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
17 citations
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January 2014 in “Journal of Oral and Maxillofacial Pathology” Seborrheic keratosis is a common, harmless skin growth that can look like cancer, so it may need a biopsy.
April 2007 in “CRC Press eBooks” Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
1 citations
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October 2022 in “Veterinary pathology” Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
January 2026 in “International Journal of Dermatology Research” Early recognition of loose anagen hair syndrome is important to prevent misdiagnosis and unnecessary treatments.
7 citations
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January 2018 in “International Journal of Trichology” Wearing a wig caused a skin condition to develop in a woman with hair loss.
19 citations
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October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
2 citations
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July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
5 citations
,
September 2018 in “Acta histochemica” The mTOR pathway proteins are altered in the hair follicles of patients with Lichen Planopilaris and Frontal Fibrosing Alopecia.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
September 2023 in “International Journal of Dermatology” Younger people are at a higher risk for Fibrosing Alopecia in a Pattern Distribution than previously thought, with common symptoms and possible involvement of mast cells in its development.
November 2020 in “Acta Medica Bulgarica/Acta medica Bulgarica” The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.