1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
9 citations
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July 2001 in “Cell” Cells from certain embryo parts can induce head formation in another embryo, involving complex signaling pathways.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
1 citations
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March 2025 in “Archivos Argentinos de Pediatria” Exposure to certain chemicals in food and containers may increase the risk of early breast development in young girls.
9 citations
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January 1997 in “Endocrine Journal” Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
2 citations
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December 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The document suggests a new way to categorize skin and mind disorders into two main groups to reduce confusion.
17 citations
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December 2006 in “Gene Expression Patterns” Scube3 gene affects mouse embryo growth in multiple areas, but needs more research.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
August 2018 in “Journal of The American Academy of Dermatology” Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
16 citations
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February 2019 in “Pediatric Blood & Cancer” Most children with CNS tumors on targeted therapy had skin reactions, which were generally treatable without stopping the therapy.
January 2023 in “Open journal of pediatrics” A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
14 citations
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June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
1 citations
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May 2023 in “Cutis” Eating disorders can cause skin problems, which may help with early diagnosis and treatment.
February 2026 in “Journal of Clinical Research in Pediatric Endocrinology” Children with Turner Syndrome often have skin, hair, and nail issues linked to hormonal problems, so regular skin checks are recommended.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
39 citations
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November 2007 in “Journal of Histochemistry & Cytochemistry” NG2 is crucial for normal skin and hair development in mice.
October 2022 in “JAAD case reports” A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
15 citations
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May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
41 citations
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July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.