May 2025 in “The Journal of Rheumatology” Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Post-exposure syndromes are persistent conditions caused by past exposures, needing unique interventions.
March 2021 in “Research Square (Research Square)” Strontium ranelate helps cartilage growth by blocking a specific cell pathway.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
21 citations
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September 2003 in “Journal of Clinical Investigation” Overexpressing noggin in mice causes severe osteoporosis.
January 2014 in “Revue des Maladies Respiratoires” Severe sarcoidosis often requires long-term systemic corticosteroids and multidisciplinary care, with most patients improving but some experiencing persistent symptoms or complications.
2 citations
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June 2023 in “Clinical and Experimental Neuroimmunology” Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.
28 citations
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June 2010 in “Pediatric dermatology” Short anagen syndrome causes short hair that may grow longer after puberty.
2 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
10 citations
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June 2007 in “Journal of Oral and Maxillofacial Surgery” A man's rare tumor caused unusual nerve-related symptoms that improved after surgery.
7 citations
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April 1994 in “Archives of Otolaryngology-head & Neck Surgery” Scalp expansion is an effective way to reconstruct the scalp with good cosmetic outcomes.
6 citations
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June 2024 in “Scientific Reports” RoPod helps study plant root cell changes and autophagy with minimal stress.
3 citations
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May 2013 in “Pediatric Dermatology” A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
30 citations
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February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
February 2025 in “International Journal of Impotence Research”
May 2022 in “Голова и шея.” Chronic tonsillitis is linked to NETosis activity, which may help tailor treatments and reduce tonsil removal surgeries.
21 citations
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October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
3 citations
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December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
October 2023 in “BMJ Case Reports” Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
11 citations
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October 2011 in “Allergologia et immunopathologia” A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.