January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
1 citations
,
January 2022 in “Skin appendage disorders” DCPA is a chronic skin condition affecting the legs, often misdiagnosed, and needs more research for better understanding and treatment.
December 2022 in “The Turkish Journal of Pediatrics” Hair examination helps diagnose rare neurological diseases in children.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
January 2024 in “Indian Journal of Paediatric Dermatology” A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
2 citations
,
March 2023 in “Frontiers in Medicine” Proper cleansing can resolve dermatosis neglecta, which may indicate underlying psychiatric issues.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
January 2023 in “Open journal of pediatrics” A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
May 2022 in “Rossijskij žurnal kožnyh i veneričeskih boleznej” Alopecia areata is complex, often recurring, and needs personalized treatment, especially with other health issues.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
September 2003 in “Current Paediatrics” The document concludes that accurate diagnosis and understanding the type of hair disorder are crucial for treating hair loss in children.
June 1997 in “Australasian Journal of Dermatology” Researchers found new hair and nail genes, how hair reacts to UV, differences in white and pigmented hair growth, nerve changes in alopecia, treatments for baldness and alopecia, a toenail condition linked to a genetic disorder, and that nail fungus is more common in people with psoriasis.
May 2002 in “British Journal of Dermatology” A pregnant woman's skin condition improved after giving birth, possibly due to high estrogen levels during pregnancy.
April 2025 in “Dermatology Practical & Conceptual” UV-enhanced trichoscopy helps diagnose hair shaft disorders like pili annulati.
12 citations
,
March 2011 in “Pediatric dermatology” An 18-year-old girl was diagnosed with a rare hereditary hair loss condition, despite no family history.
7 citations
,
November 2000 in “Clinics in Dermatology” Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
July 2018 in “Nasza Dermatologia Online” Frontal fibrosing alopecia and ulerythema ophryogenes may be related and can evolve from one to the other.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
October 2012 in “Indian Journal of Dermatology, Venereology and Leprology” 13 citations
,
June 2011 in “PubMed” The patient improved significantly after treatment, with only one small scar remaining.
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.
17 citations
,
September 2000 in “Journal of dermatology” A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.