4 citations
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August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
4 citations
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December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
7 citations
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January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
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.
38 citations
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January 2014 in “International Journal of Endocrinology” Adrenal disorders can cause lasting brain and behavior issues in children.
21 citations
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June 2010 in “Anais Brasileiros De Dermatologia” The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
15 citations
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September 2018 in “Medicine” Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
12 citations
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June 2016 in “Reviews in Endocrine and Metabolic Disorders” Some skin diseases and their treatments can negatively affect male fertility.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
5 citations
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May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
1 citations
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
9 citations
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August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
6 citations
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October 2022 in “Frontiers in Oncology” New techniques and materials improve sternum reconstruction and patient quality of life.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
June 2024 in “Journal of Clinical Medicine” Hair dye can cause severe scalp burns and long-term health risks, so safety guidelines must be followed.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
PRP therapy is promising for hair loss but needs standardized methods and personalization.
1 citations
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December 2012 in “Clinical and Experimental Dermatology” A rare calcium deposit condition was found on a man's scalp.
48 citations
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January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
41 citations
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December 2016 in “International Journal of Women's Dermatology” Hormone therapy and surgeries for transgender individuals affect their skin and hair, requiring specific dermatologic treatments and respectful care.
11 citations
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January 2015 in “Current problems in dermatology” The conclusion is that treatments like finasteride and minoxidil can prevent baldness progression and improve hair density, but more research is needed on other therapies.
December 2015 in “JAMA Dermatology” Dermatologists can help diagnose endocrine disorders like PCOS and metabolic syndrome by looking at skin symptoms.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.