April 2020 in “BMC endocrine disorders” A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
1 citations
,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
1 citations
,
May 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
April 2024 in “Anais Brasileiros de Dermatologia” 27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
2 citations
,
January 2014 in “Dermatology Online Journal” Hair-thread tourniquet syndrome needs more awareness and discussion in dermatology.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
5 citations
,
March 1943 in “Archives of Dermatology and Syphilology” A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
4 citations
,
January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
1 citations
,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
8 citations
,
November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
56 citations
,
October 2010 in “Pediatric Clinics of North America” Epidermal nevi are skin cell clusters linked to various syndromes.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
November 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Dietary habits and stress management are key to preventing hair loss.
November 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Dietary habits and stress management are key to preventing hair loss.
5 citations
,
June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
Mutations in specific genes cause different types of ectodermal dysplasias.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
December 2021 in “International Journal of Science and Research (IJSR)” Virechana Karma is very effective for managing hair loss.