11 citations
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March 2021 in “Molecular Carcinogenesis” Twist1 is crucial for UVB-induced skin cancer development.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
50 citations
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October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
108 citations
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November 1980 in “British Journal of Dermatology” Oral retinoids are effective for various skin conditions but have side effects and should not be used during pregnancy.
July 2022 in “BMJ Case Reports” Early treatment is crucial to prevent severe eye complications from caterpillar hair.
3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
Inhibiting mTORC2 can reduce DNA repair and increase cancer cell death, suggesting potential for targeted brain cancer treatments.
333 citations
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March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
1 citations
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June 2014 in “Journal of developmental biology” Retinoic acid helps change skin cells and is important for skin development and hair growth.
4 citations
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August 2017 in “Journal of cutaneous pathology” An 8-year-old girl had a rare, benign skin tumor on her forehead.
5 citations
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August 2000 in “Archives of Pathology & Laboratory Medicine” The nodule on the woman's back was a benign hair follicle tumor, not cancer, but needed removal.
Benign tumors from hair follicles can look like other skin cancers but have distinct features under dermoscopy.
2 citations
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December 2020 in “JAMA Dermatology” Radiotherapy is a good option when further surgery for skin cancer isn't preferred, but more research is needed to compare it with other methods.
September 2023 in “Curēus” A 21-year-old male has a benign skin condition called Becker's nevus, which he chose not to treat.
76 citations
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January 1998 in “Mammalian Genome”
19 citations
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April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
61 citations
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March 1966 in “Archives of Dermatology” Nevoid basal cell carcinomas start in the skin and hair follicles.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
January 2014 in “Pathology” RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.
30 citations
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June 1993 in “The Journal of Cell Biology” The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
31 citations
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December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
4 citations
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April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
47 citations
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February 2014 in “Journal of Cutaneous Pathology” Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.
17 citations
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October 2001 in “British Journal of Ophthalmology” Intralesional cidofovir might be a good alternative treatment.
27 citations
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July 2013 in “Journal of Investigative Dermatology” Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
May 2020 in “Research Square (Research Square)” Human stem cells can turn into functional eye cells that might help treat retinal diseases.
82 citations
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April 1981 in “Clinical endocrinology” A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
380 citations
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March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.