65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
Mesotherapy with stem cells showed promising hair growth results in some patients with hair loss, but more research is needed.
13 citations
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March 2022 in “Cell Death and Differentiation” Sema3A can both slow and speed up wound healing, depending on its form and combination with EGF.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
October 2025 in “Bioengineering” Coating surgical meshes with PRP may improve hernia repair outcomes.
9 citations
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July 2013 in “Clinical Neuroradiology” A man developed a rare blood vessel connection on his scalp after hair transplants, which was successfully treated with surgery.
July 2014 in “Plastic and Reconstructive Surgery” Sentinel lymph node biopsy is recommended for all types of desmoplastic melanoma due to higher rates of nodal metastasis.
July 2014 in “Plastic and Reconstructive Surgery” Sentinel lymph node biopsy is recommended for all types of desmoplastic melanoma due to higher rates of nodal metastasis.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
3 citations
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December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Disrupting YAP signaling in skin cells leads to scar-free healing directed by specific cell signals.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
43 citations
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February 2008 in “Journal of cutaneous pathology” Melanocyte precursors in human fetal skin follow a specific migration pattern and some remain in the skin's deeper layers.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
1 citations
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin cell types develop when specific genes are turned on by removing certain chemical tags from DNA.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
June 2015 in “Sonography” Ultrasound is effective for diagnosing scrotal cysts, and prompt treatment is crucial to prevent severe complications.
2 citations
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August 2014 in “Journal of the American Academy of Dermatology” A rare case of scleredema in a diabetic woman showed loss of sweat glands, causing heat strokes, with treatment only slightly improving symptoms.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
September 2019 in “Journal of Investigative Dermatology” Researchers developed a 3D skin model with its own immune and blood vessel cells to better understand skin health and disease.
July 2021 in “Physiology and Pharmacology” Umbilical cord masks can help reduce melasma in postpartum women.
41 citations
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September 2017 in “Advanced Healthcare Materials” A special hydrogel helps heal skin without scars and regrows hair.
4 citations
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January 2013 in “International Journal of Trichology” Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.
417 citations
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September 2005 in “PLoS biology” Understanding gene expression in hair follicles can reveal insights into hair growth and disorders.
7 citations
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April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
113 citations
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July 2020 in “International Journal of Molecular Sciences” Allogenic ASCs and ECM transplants are safe and effective for tissue regeneration.
3 citations
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August 2012 in “Nature Cell Biology” Certain proteins help nerve cells branch, and other findings relate to cancer, stem cell behavior, and cell division.
271 citations
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May 2019 in “Cells” The secretome from mesenchymal stem cells is a promising treatment that may repair tissue and avoid side effects of stem cell transplantation.
11 citations
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January 2010 in “Dermatology Research and Practice” Desmosomes are crucial for human skin development, increasing in density as the skin matures.
July 2025 in “Dermatology Practical & Conceptual” A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.