15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
23 citations
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March 1958 in “JNCI Journal of the National Cancer Institute” Male-to-female skin grafts in mice are rejected due to sex-linked antigens.
1 citations
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April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Melanocyte-associated antigens may play a key role in alopecia areata and could be targets for new treatments.
31 citations
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October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
December 2022 in “Laboratory Animal Research” Trichoblastomas in aged house musk shrews show unique features and may involve serum amyloid A in inflammation.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
July 2024 in “Journal of Investigative Dermatology”
June 2020 in “Annals of the Rheumatic Diseases” Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
July 2025 in “Journal of Investigative Dermatology” Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
November 2025 in “The Journal of Immunology” BST2 is highly expressed in certain immune cells in alopecia areata, suggesting a role in the disease.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
7 citations
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January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
September 2011 in “Archives of dermatology” The child was diagnosed with cutaneous leishmaniasis.
2 citations
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February 2021 in “Journal of comparative pathology” Sheep with chronic Sarcoptes scabiei dermatitis have altered keratin expression in their skin.
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November 1996 in “Transplantation” Injecting recipient splenocytes into donors' thymus can prevent graft-versus-host disease.
January 2019 in “Galicia Clínica” A patient in Portugal with chronic pulmonary histoplasmosis had a complex medical history and environmental exposures.
31 citations
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April 2018 in “Royal Society open science” Sarcoptes scabiei infection causes significant health and behavior changes in wombats.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
July 2021 in “Veterinary record/The veterinary record” A calf in Scotland likely had Schmallenberg virus from its mother.
1 citations
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January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
September 2014 in “Archives of disease in childhood” A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
6 citations
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February 1997 in “International Journal of Dermatology” Kaposi's sarcoma lesions might originate from benign tissue changes.