21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
15 citations
,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
14 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve with age and can be managed with treatments like minoxidil, retinoids, supplements, and gentle hair care, but there's no cure.
2 citations
,
January 2014 in “Hair therapy & transplantation” New treatments for hair growth disorders are needed due to limited current options and complex hair follicle biology.
December 2025 in “Italian Journal of Anatomy and Embryology” Understanding embryologic layers improves skin disorder diagnosis and supports developing targeted therapies.
3 citations
,
February 2016 in “Pediatric dermatology” Strong skin creams work well for long-term scalp inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
68 citations
,
May 2018 in “PLOS Biology” Cyclosporine A may help treat hair loss by blocking a protein that inhibits hair growth.
1 citations
,
November 2023 in “Cureus” Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
January 2025 in “International Journal of Pharmacognosy and Life Science” Herbal treatments like Aloe vera, Bhringraj, Neem, Tea tree oil, Amla, and Hibiscus are promising for safer, effective hair care.
72 citations
,
January 2011 in “Current Pharmaceutical Design” S5αR inhibitors might help treat schizophrenia and other mental disorders but need more research.
April 2018 in “Journal of Investigative Dermatology” The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
57 citations
,
February 2018 in “Journal of the American Academy of Dermatology” Biotin supplements are not proven to improve hair or nails and may interfere with medical tests.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
24 citations
,
February 2011 in “The American journal of pathology” AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
417 citations
,
September 2005 in “PLoS biology” Understanding gene expression in hair follicles can reveal insights into hair growth and disorders.
99 citations
,
January 2014 in “Nature communications” Scientists created stem cells that can grow hair and skin.
78 citations
,
April 1994 in “Archives of dermatology” The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
51 citations
,
January 2014 in “Pediatric Clinics of North America” The guide explains how to identify and treat children's hair loss, including fungal infections, autoimmune disorders, hairstyle changes, self-correcting conditions, and behavioral therapy for hair-pulling.
6 citations
,
May 1993 in “Archives of Disease in Childhood” Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.
5 citations
,
January 2020