June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
50 citations
,
October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
10 citations
,
August 2011 in “Clinics” The author clarified that Alopecia Areata Incognita (AAI) and diffuse Alopecia Areata (AA) are different conditions and the case discussed was actually AA, not AAI.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
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.
3 citations
,
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.
63 citations
,
May 2000 in “Australasian Journal of Dermatology” Chemotherapy and bone marrow transplant can cause permanent hair loss.
4 citations
,
January 1976 in “Archives of Dermatological Research” Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
April 2018 in “Journal of Investigative Dermatology” DNMT3A is crucial for healthy skin and hair growth.
January 2023 in “International Journal of Contemporary Pediatrics” A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
58 citations
,
November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
July 2025 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” MicroRNA-22-3p hinders hair regrowth in male pattern baldness by affecting a specific protein.
8 citations
,
February 2015 in “Cellular immunology” Deleting Snai2 and Snai3 causes fatal autoimmunity.
7 citations
,
March 2024 in “Non-coding RNA Research” DNA methylation of miR-365-1 causes hair follicle stem cell death by affecting DAP3.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
19 citations
,
March 2003 in “Journal of Investigative Dermatology” Mechlorethamine treatment regrew hair in mice by killing immune cells causing hair loss without harming hair follicles.
1 citations
,
May 2019 in “The Journal of Pediatrics” The baby's hair loss was due to congenital syphilis, which was treated with penicillin.
23 citations
,
June 1950 in “American journal of diseases of children” Aminopterin was somewhat effective in acute lymphoblastic leukemia in children but did not increase survival time.
8 citations
,
October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
4 citations
,
November 2025 in “Nature Reviews Disease Primers”
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
January 2015 in “Faculty of 1000 Research Ltd” Androgenetic alopecia may be irreversible due to the detachment of a muscle from hair follicles.
The PI's development is closely linked to skin and hair pigmentation in macaques.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
Mutations in specific genes cause different types of ectodermal dysplasias.
4 citations
,
May 2025 in “Cells” miR-370-3p slows sheep hair cell growth by blocking SMAD4.