10 citations
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November 2017 in “Skin Appendage Disorders” Erosive pustular dermatosis in elderly people may be linked to aging immune systems and skin damage.
4 citations
,
January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
24 citations
,
June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
1 citations
,
July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
September 2023 in “International Journal of Dermatology” Younger people are at a higher risk for Fibrosing Alopecia in a Pattern Distribution than previously thought, with common symptoms and possible involvement of mast cells in its development.
49 citations
,
January 2005 in “Dermatology” Systemic retinoids may effectively treat erosive pustular dermatosis of the scalp.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
7 citations
,
January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
3 citations
,
October 2013 in “International Journal of Rheumatic Diseases” A young woman with severe symptoms of CPAN improved with intensive treatment but needed a leg amputation.
20 citations
,
October 2005 in “Archives of Dermatological Research” December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
August 2025 in “JEADV Clinical Practice” PRIDE complex side effects from EGFR inhibitors can be managed without stopping treatment.
April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
July 2015 in “Actas Dermo-Sifiliográficas” A young woman with a rare fungal infection showed significant improvement after treatment with antifungal medication.
17 citations
,
August 1983 in “Australasian Journal of Dermatology” The review says skin conditions with sterile pustules need more research for better treatments.
11 citations
,
December 1921 in “Archives of dermatology and syphilology” A rare scalp disease causes hair loss, pus-filled nodules, and scarring.
124 citations
,
January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
4 citations
,
November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
7 citations
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November 2017 in “Cureus” Ear creases might indicate heart disease risk, needing more research.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
2 citations
,
January 2016 in “Gynecological Endocrinology” A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
December 2025 in “JGH Open” Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.