18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
7 citations
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July 2008 in “Experimental Dermatology” The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
1 citations
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July 2022 in “Вопросы современной педиатрии” Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
November 2024 in “Communities in ADDI (University of the Basque Country)”
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
January 2023 in “Åbo Akademi University Research Portal” Vimentin is crucial for wound healing, cell growth, and managing immune responses.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
January 2018 in “Stem cell biology and regenerative medicine” The nucleus is key in controlling skin growth and repair by coordinating signals, gene regulators, and epigenetic changes.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
July 2003 in “British Journal of Dermatology” Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
9 citations
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December 2018 in “JAAD case reports” Lipedematous alopecia involves a thickened scalp and hair loss, with limited effective treatments available.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
January 2025 in “Dermatology Research and Practice” Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
4 citations
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January 2015 in “Case Reports in Rheumatology” Early recognition and management of connective tissue diseases like lupus are crucial in young patients.
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
10 citations
,
June 2019 in “Case reports in dermatology” LALPS causes non-scarring hair loss along the Blaschko line, with unique trichoscopic findings.
Defective nuclear transport may cause gene expression changes in Progeria.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
1 citations
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May 2015 in “Journal of The American Academy of Dermatology” Lichen planus pigmentosus and fibrosing frontal alopecia in Colombia are likely different stages of the same disease.
January 2004 in “Kölner Universitäts PublikationsServer (Universität zu Köln)” Collagen XVII and CD151 affect cell movement, with CD151 inhibiting migration when bound to integrins.
July 2025 in “Journal of Investigative Dermatology” Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
19 citations
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April 2018 in “International Journal of Dermatology” People with Lichen Planopilaris are more likely to have autoimmune diseases, especially Systemic Lupus Erythematosus, and less likely to have diabetes and some other common conditions.
1 citations
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April 2022 in “HCA Healthcare Journal of Medicine” Linear cutaneous lupus erythematosus on the scalp is rare, often affects young Asians, and can be treated with specific medications.
10 citations
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July 2014 in “Annals of Saudi Medicine” A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
16 citations
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March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
17 citations
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September 2018 in “Matrix Biology” Laminin-511 is essential for proper melanocyte movement and development in mice.
January 2025 in “Indian Journal of Dermatopathology and Diagnostic Dermatology” Dermoscopy helps diagnose rare GLPLS in males.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
Lichen planopilaris can occur with multiple autoimmune diseases.