May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
2 citations
,
January 2018 in “European journal of pediatric surgery reports” A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
July 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Monilethrix causes different levels of hair loss in family members.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
1 citations
,
November 2024 in “Veterinary Dermatology” The cat's hair loss was linked to a type of cancer.
32 citations
,
May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
March 2023 in “European journal of internal medicine” The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
14 citations
,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
2 citations
,
May 2022 in “Stem cell research & therapy” Disrupted stem cell signals in hairpoor mice cause hair loss.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
1 citations
,
June 2025 in “Frontiers in Pediatrics” Early detection and infection prevention are crucial for improving survival in pediatric lupus patients with aplastic anemia.
2 citations
,
June 2023 in “Clinical and Experimental Neuroimmunology” Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.
14 citations
,
August 2006 in “Clinical and Experimental Dermatology” A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
50 citations
,
January 1941 in “Annals of Internal Medicine” Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
42 citations
,
September 2000 in “British Journal of Dermatology” Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
5 citations
,
November 1979 in “PubMed” A hereditary condition causes hair loss and twisted hair in some family members.
32 citations
,
November 2006 in “Veterinary dermatology” Congenital alopecia in domestic animals is rare and involves abnormal hair follicle development, needing better understanding and classification.
2 citations
,
September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
4 citations
,
May 1958 in “Journal of Investigative Dermatology”
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
14 citations
,
January 2010 in “Dermatology” Some people with congenital triangular alopecia have a central tuft of hair in the bald patch, but the cause is unknown.
64 citations
,
May 1981 in “Clinical and Experimental Dermatology” A possible link exists between hair follicle abnormalities, hair loss, and muscle weakness.
2 citations
,
May 1979 in “PubMed” Monilethrix is not caused by a metabolic defect.