5 citations
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August 2020 in “Curēus” The document concludes that recent studies help tell apart desmoplastic trichoepitheliomas from other skin tumors, but more research is needed for clear differentiation.
January 2019 in “Revista Medicina Cutánea Ibero-Latino-Americana” Vitamin D is important for skin health and can help improve various skin conditions.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
1 citations
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May 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
6 citations
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January 2013 in “Case reports in endocrinology” The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
December 2024 in “Clinical Cosmetic and Investigational Dermatology” Elderly patients with eruptive skin bumps may have clear cell syringoma linked to glucose issues.
27 citations
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February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
January 2015 in “프로그램북(구 초록집)” A 25-year-old man had an unusual case of benign skin tumors and hair loss.
6 citations
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January 1997 in “Pediatric dermatology” The case suggests a possible link between severe acne and certain bone deformities.
5 citations
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January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
18 citations
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December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
7 citations
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January 1990 in “Archives of Dermatological Research” Syringomas likely start in the upper dermis and form distinct luminal structures.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
7 citations
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August 2008 in “Cases Journal” A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.
5 citations
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January 2015 in “Dermatology” The report suggests that the same underlying issue in blood vessel support may cause angiokeratomas on both the scrotum and eyelids.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
February 2026 in “Journal of Cutaneous and Aesthetic Surgery” Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
2 citations
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July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
31 citations
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March 1963 in “American journal of diseases of children” Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
2 citations
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May 2011 in “International Journal of Dermatology” A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
January 2017 in “Journal of clinical & experimental dermatology research” The case shows skin changes can indicate deeper health issues like insulin resistance, which are challenging to manage.
January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.