December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
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.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
6 citations
,
January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplements effectively treat acrodermatitis enteropathica.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplementation effectively treats acrodermatitis enteropathica symptoms.
43 citations
,
April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
11 citations
,
October 2011 in “Allergologia et immunopathologia” A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
37 citations
,
June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
18 citations
,
January 1977 in “Annals of Nutrition and Metabolism” Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
2 citations
,
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.
6 citations
,
October 1998 in “PubMed” Antifungal treatment can improve severe skin infections with cutaneous horns.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
December 2025 in “Frontiers in Medicine” ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
10 citations
,
March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
January 2026 in “BMC Veterinary Research” A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.