32 citations
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May 2018 in “The Plant Cell” ERULUS is crucial for root hair growth by controlling calcium levels.
6 citations
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January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
May 2024 in “ABDIKAN Jurnal Pengabdian Masyarakat Bidang Sains dan Teknologi” A family medicine approach improves treatment and quality of life for children with enterobiosis.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
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.
20 citations
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January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
4 citations
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January 2017 in “Ciência Rural” A horse in Brazil with skin and gut issues was diagnosed with a severe disease and had to be euthanized.
February 2026 in “Cosmetics” Perifollicular elastolysis is poorly understood, with limited treatment options and inconsistent results.
66 citations
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August 2011 in “Parasitology Research” Mint essential oils can kill parasites that cause cystic echinococcosis, with M. pulegium oil being more effective than M. piperita oil.
25 citations
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April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
September 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Special gut cells help stem cells move to and fix injured areas by activating a specific signaling pathway.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
12 citations
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July 2011 in “Experimental Dermatology” The ethosomal delivery system improves topical drug delivery and promotes hair growth.
25 citations
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February 2024 in “Biomaterials” Stem cell-derived organoids can improve skin healing.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
3 citations
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September 2016 in “Pediatric Dermatology” Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
14 citations
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July 2012 in “Journal of the American Academy of Dermatology” Topical tacalcitol ointment can help improve symptoms of EFFC.
4 citations
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July 1994 in “Clinics in Dermatology” Eosinophilia-myalgia syndrome, linked to contaminated L-tryptophan supplements, caused severe symptoms and some deaths, with long-term effects in survivors.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
1 citations
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June 2017 in “Veterinary dermatology” A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
3 citations
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August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
60 citations
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December 2013 in “PLoS ONE” EETs can delay seizures by affecting GABA activity, offering potential new treatments for seizures.
3 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.