4 citations
,
September 2013 in “Expert Review of Endocrinology & Metabolism” Different types of polycystic ovary syndrome show varying levels of insulin resistance, with the 'PHO' type being the most insulin resistant.
12 citations
,
September 2011 in “BMJ Case Reports” Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
13 citations
,
October 2016 in “Journal of Clinical Neuroscience” Thallium poisoning can cause worsening nerve damage and vision loss without typical symptoms.
65 citations
,
December 1986 in “The Journal of Clinical Endocrinology & Metabolism” The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
1 citations
,
May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
4 citations
,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
January 2019 in “Dermatologic Surgery” April 2025 in “Suez Canal University Medical Journal” Valproic acid can rarely cause fluid buildup around the lungs and heart.
January 2025 in “The Journal of Clinical Endocrinology & Metabolism” Diagnosing PCOS is challenging due to its complex and varied symptoms.
May 2025 in “The Journal of Rheumatology” Purpura fulminans can signal underlying autoimmune disorders, not just infections.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
May 2025 in “The Journal of Rheumatology” Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.
117 citations
,
September 2003 in “Molecular & cellular proteomics” The technology can help diagnose and subtype autoimmune diseases by identifying specific autoantibodies.
2 citations
,
May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
September 2023 in “Research Square (Research Square)” The document concludes that the new expert system can assess the risk of PCOS effectively despite uncertainties in diagnosis.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
9 citations
,
March 2022 in “Frontiers in Endocrinology” About 19.4% of Iranian women in the study have Polycystic Ovary Syndrome, with the most common type involving irregular periods and high male hormone levels, but their heart and metabolic health is similar to women without the condition.
November 2024 in “Global Journal of Human-Social Science” Most people with metabolic syndrome in Brazil have skin issues, especially if they are morbidly obese.
April 2023 in “World Journal of Advanced Research and Reviews” Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
9 citations
,
January 2017 in “Annals of Dermatology” The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
43 citations
,
July 2012 in “Molecular human reproduction” Certain metabolites are lower in women with PCOS and could be potential markers for the condition.
2 citations
,
June 2024 in “Anti-Aging Eastern Europe” PCOS symptoms vary by age, affecting diagnosis and treatment.
January 2025 in “International Journal of Pharmaceutical Research and Applications” PCOS causes hormonal imbalance, leading to symptoms like irregular periods and infertility.
53 citations
,
August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
January 2016 in “ACG Case Reports Journal” A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
1 citations
,
January 2017 in “Tohoku journal of experimental medicine” A woman's mature cystic teratoma caused her virilization by producing testosterone.
86 citations
,
January 1990 in “The Journal of Pediatrics” Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
29 citations
,
November 2011 in “Human Fertility” Many women with PCOS have undiagnosed health issues and show different symptoms based on the clinic they visit.