October 2013 in “The American Journal of Gastroenterology” Early diagnosis of colorectal cancer in young patients with certain symptoms is crucial for better outcomes.
10 citations
,
April 2003 in “Clinical neurology and neurosurgery” Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
15 citations
,
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.
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
December 2025 in “Frontiers in Endocrinology” High chromogranin A levels are linked to obesity and inflammation in polycystic ovary syndrome.
March 2021 in “Der Hautarzt” Neuroendocrine paraneoplastic syndromes often show skin changes, helping early diagnosis and requiring a team approach for best care.
37 citations
,
April 2012 in “British Journal of Dermatology” Female hair loss linked to metabolic syndrome, not in males.
20 citations
,
September 1998 in “PubMed” Gorillas in Gabon improved after protein supplements were added to their diet.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
July 2021 in “International Journal of Homoeopathic Sciences” Certain factors can trigger hormonal imbalances and cyst formation, leading to Polycystic Ovarian Syndrome (PCOS).
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
April 2023 in “International journal of medical and biomedical studies” Early screening for Metabolic Syndrome in hair loss patients can help prevent heart disease.
9 citations
,
April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
1 citations
,
January 2016 in “Journal of gastrointestinal & digestive system” The new bariatric surgery SAGI PGP is effective for weight loss and diabetes control with few complications.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
51 citations
,
January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
1 citations
,
July 2022 in “Indian Journal of Dermatology” Bullous pyoderma gangrenosum can develop on cesarean scars and may require steroids for treatment.
July 2024 in “International Journal of Chemical and Biological Sciences” Glypican-4 may help indicate insulin sensitivity and lipid issues in women with PCOS.
October 2025 in “University of Zadar Institutional Repository” Early hair loss may signal a risk for metabolic syndrome and related health issues.
2 citations
,
June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
16 citations
,
March 2014 in “Journal of the European Academy of Dermatology and Venereology” Korean patients with PCOS often have skin problems like acne and excess hair, with different symptoms based on their specific PCOS type.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.