8 citations
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August 2019 in “Journal of The American Academy of Dermatology” Early diagnosis and treatment, like topical minoxidil, can prevent hair loss in children.
July 2008 in “VTechWorks (Virginia Tech)” PrPC is important for neural differentiation in cattle and mouse embryonic stem cells.
28 citations
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September 2013 in “Biogerontology” Hair proteins in preschool children and their mothers could indicate developmental changes and health status.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
November 2006 in “Reactions Weekly” A woman's hair grew back after she stopped taking the Parkinson's disease medication pramipexole.
8 citations
,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
42 citations
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May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
May 2024 in “Research Square (Research Square)” Pediatric androgenetic alopecia is linked to obesity, family history, hormonal imbalances, and requires personalized treatment including managing comorbidities.
1 citations
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January 2014 in “PubMed” Hair loss in a child was an early sign of Crohn's disease.
10 citations
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October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
61 citations
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January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” Hair usually grows back 1-3 months after treatment for anagen effluvium, and children with Loose Anagen Hair Syndrome often improve by adolescence.
October 2025 in “Dermatology Practical & Conceptual” Ultraviolet techniques help identify Grover’s Disease, which may be underdiagnosed in young people and females.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
July 2025 in “Journal of Dermatology Research Reviews & Reports” A 10-year-old girl with hair and eyelash loss showed significant regrowth after treatment.
July 2023 in “Clinical Cosmetic and Investigational Dermatology” Accurate diagnosis of granular parakeratosis is crucial for effective treatment and improvement.
April 2022 in “Cermin Dunia Kedokteran” Accurate diagnosis and understanding of alopecia areata in children are crucial for proper treatment.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
January 2001 in “Cambridge University Press eBooks” Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
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.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
78 citations
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April 1994 in “Archives of dermatology” The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
January 2022 in “Indian Journal of Paediatric Dermatology” A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
8 citations
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January 2006 in “Dermatology Online Journal” The girl's skin condition is benign but challenging to treat due to its size and location.