January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
April 2018 in “Journal of Investigative Dermatology” Aging reduces skin cell renewal and defense against germs due to TGFbeta, but blocking TGFbeta could help restore these functions.
MIR135b affects wound healing by targeting genes, and PDRN may help heal wounds by altering this pathway.
January 2014 in “Journal of Investigative Dermatology” Proteins like aPKC and PDGF-AA, substances like adenosine and ATP, and adipose-derived stem cells all play important roles in hair growth and health, and could potentially be used to treat hair loss and skin conditions.
June 2011 in “Expert Review of Dermatology” Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.
April 2018 in “Journal of Investigative Dermatology” Hair pattern in androgenetic alopecia overlaps with scalp and bone demarcations, with distinct gene profiles affecting susceptibility.
3 citations
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April 2016 in “Journal of Investigative Dermatology” Tofacitinib, a JAK inhibitor, improved hair regrowth in most patients with severe alopecia areata and had minimal side effects.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
42 citations
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June 2002 in “Molecular and Cellular Biology” Keratinocyte gene expression is controlled by multiple modules with specific binding sites.
28 citations
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February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
23 citations
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December 2008 in “Current medicinal chemistry” Stimulating sensory neurons can increase IGF-I production, which may help treat various diseases and improve tissue health.
21 citations
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April 2019 in “Clinical, cosmetic and investigational dermatology” The document concludes that stopping shaving or removing affected hair can alleviate Pseudofolliculitis barbae (PFB).
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
7 citations
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September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
6 citations
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October 2020 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
5 citations
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January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
3 citations
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October 2021 in “Clinical, Cosmetic and Investigational Dermatology” Scalp melanoma, a deadly skin cancer, is often found late due to its hard-to-see location, especially in older men. Early detection, possible treatments, and the role of hairdressers in spotting it early are discussed. More research is needed to improve detection and treatment.
3 citations
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March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
2 citations
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October 2023 in “Philosophical transactions - Royal Society. Biological sciences” Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
2 citations
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January 1960 in “Australian Journal of Biological Sciences” The Naked gene in mice causes abnormal sebaceous glands and disrupts hair follicle organization.
1 citations
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June 2025 in “Journal of Allergy and Clinical Immunology Global” A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
1 citations
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December 2023 in “Indian Dermatology Online Journal” Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.