62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
43 citations
,
April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.
8 citations
,
September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
1 citations
,
January 2023 in “PubMed” 9 citations
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July 1961 in “Journal of Investigative Dermatology” Cutaneous calcinosis can be induced in young animals using certain compounds, but only in specific areas and with high mortality.
8 citations
,
March 2015 in “Neuromuscular Disorders” People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
March 2022 in “JAAD case reports” A man had a non-cancerous, fast-growing skin lump on his arm that was removed with surgery.
20 citations
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November 2014 in “Developmental Dynamics” Palate formation and skin healing share similar biological processes.
April 2018 in “Dermatologic Surgery”
1 citations
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December 2021 in “Daehan hwa'sang haghoeji” A patient with a severe scalp burn developed chronic bone infection, treated with surgery and muscle-skin flap from the back.
25 citations
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September 2006 in “Birth Defects Research” Different processes create patterns in skin and things like hair and feathers.
45 citations
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August 2009 in “American Journal Of Pathology” Noggin promotes skin tumors by activating certain cell signaling pathways.
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.
15 citations
,
November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
8 citations
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November 2019 in “Tissue Engineering Part A” Functionalized collagen scaffolds applied prenatally greatly improve skin regeneration.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
27 citations
,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
1 citations
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April 2011 in “Clinical Kidney Journal” A benign skin tumor grew quickly in a dialysis patient and was surgically removed.
5 citations
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September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
372 citations
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December 2004 in “Nature Genetics”
April 2016 in “Plastic and reconstructive surgery. Global open” Surgery may help infants with sagittal craniosynostosis develop more typical language processing.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
9 citations
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January 2011 in “American Journal of Dermatopathology” Pilomatrixoma involves abnormal hair keratin production and cell death, causing debris and cysts.