1 citations
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April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
19 citations
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October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
October 2023 in “Journal of the Endocrine Society” A woman's cyclic Cushing syndrome was caused by a tumor in her adrenal gland that produced ACTH.
January 2024 in “Medicinska istrazivanja” Timely treatment of EPDS can reduce scarring.
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.
January 2025 in “BMJ Case Reports” Precocious puberty can signal familial adenomatous polyposis.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Post-Exposure Syndromes are persistent conditions caused by past exposures, needing unique interventions.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
Early recognition and zinc treatment can effectively improve acrodermatitis symptoms.
90 citations
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August 2006 in “British Journal of Dermatology” PRIDE syndrome includes skin and hair issues from cancer treatment with EGFR inhibitors.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Post-exposure syndromes are persistent conditions caused by past exposures, needing unique interventions.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
January 2025 in “Dermatology Online Journal” The man's hair loss and skin papules were diagnosed as atrichia with papular lesions, not alopecia areata universalis.
8 citations
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November 2013 in “Vojnosanitetski pregled” Erosive pustular dermatosis of the scalp may not be as rare as previously thought.
16 citations
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
August 2025 in “Indian Dermatology Online Journal” Early recognition and treatment of EPDS are crucial to prevent permanent hair loss.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
6 citations
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August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
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.
October 2021 in “European Journal of Dermatology” CAL-PDT is safer and more effective for treating actinic keratosis on the scalp.