35 citations
,
September 2006 in “American Journal Of Pathology” Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
2 citations
,
October 1931 in “Archives of Dermatology and Syphilology” A rare scalp infection in a child developed into a kerion with additional skin symptoms.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
7 citations
,
September 1980 in “Zoological Journal of the Linnean Society” Dendritic cells help regulate skin development and hair growth in mice.
April 2023 in “The Medical Journal of Australia” A five-year-old girl has a harmless, unchanging bald patch on her scalp.
133 citations
,
February 2019 in “PLoS Biology” Feather patterns in birds are shaped by signaling interactions and cell movements, with EDA/EDAR crucial for pattern formation.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
1 citations
,
January 2015 in “Journal of Pigmentary Disorders” Melasma is a skin condition linked to female hormones, genetics, UV exposure, and certain medications, but not to pituitary, adrenal, or thyroid diseases.
8 citations
,
January 2006 in “Dermatology Online Journal” The girl's skin condition is benign but challenging to treat due to its size and location.
59 citations
,
November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
January 2016 in “Case reports in clinical medicine” A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dermal EZH2 controls skin cell growth and differentiation in mice.
6 citations
,
July 2015 in “International Journal of Dermatology” Trichoepitheliomas can be hard to distinguish from other skin conditions and often start in teenage years.
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
5 citations
,
January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Congenital atrichia with papular lesions causes permanent hair loss in children.
November 2022 in “Journal of Investigative Dermatology” Human-induced stem cell-created skin models can help understand skin diseases by studying the skin's layers.
11 citations
,
January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
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.
31 citations
,
March 1963 in “American journal of diseases of children” Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.