59 citations
,
September 2021 in “Journal of Allergy and Clinical Immunology” Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
55 citations
,
May 1970 in “New England Journal of Medicine” Scurvy may cause symptoms similar to Sjögren's syndrome, which disappear with vitamin C.
53 citations
,
April 2016 in “PubMed” PCOS affects multiple organs and requires combined treatment with lifestyle changes, metformin, and oral contraceptives.
53 citations
,
September 2014 in “Reproductive Biology and Endocrinology” Different types of PCOS have different levels of metabolic problems, with the most severe type showing the highest disturbances.
53 citations
,
June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
52 citations
,
February 2018 in “Diabetology & Metabolic Syndrome” Some skin conditions may indicate metabolic syndrome, which could help with early detection and management of related health issues.
50 citations
,
January 2013 in “Indian Journal of Dermatology” Some skin conditions, like psoriasis and early-onset baldness, may indicate metabolic syndrome, and others are linked to diabetes risk and cardiovascular issues.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
47 citations
,
February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
45 citations
,
January 2013 in “Journal of Human Reproductive Sciences” Women with PCOS are more likely to have fatty liver disease, especially if they have metabolic problems.
45 citations
,
January 2006 in “Endocrine journal” To diagnose Polycystic Ovarian Syndrome, two out of three signs—irregular periods, high male hormone levels, or cysts on the ovaries—are needed.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
42 citations
,
November 2019 in “Frontiers in Endocrinology” The document suggests creating a validated score to diagnose Cushing's Syndrome and considers plasma steroid profiling as a simpler diagnostic method.
42 citations
,
January 2011 in “European Journal of Dermatology” Early balding men may have insulin resistance, but lifestyle changes can help.
41 citations
,
December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
40 citations
,
November 2019 in “Frontiers in Endocrinology” Metabolic Syndrome is linked to several skin conditions, and stem cell therapy might help treat them.
40 citations
,
August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
39 citations
,
October 2010 in “Journal of The American Academy of Dermatology” Some patients with mycosis fungoides or Sézary syndrome experience hair loss, which may be similar to alopecia areata or linked to skin lesions, possibly due to abnormal T cells, and bexarotene can help treat it.
39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
38 citations
,
September 2017 in “Journal of zoo and wildlife medicine” Oclacitinib maleate successfully treated alopecia in Andean bears.
36 citations
,
October 2021 in “Frontiers in Endocrinology” Insulin resistance and high male hormone levels are major causes of Polycystic Ovary Syndrome.
35 citations
,
May 2015 in “Arquivos De Gastroenterologia” Women with PCOS are more likely to have fatty liver disease and worse metabolic health.
34 citations
,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
34 citations
,
May 2017 in “Seminars in Reproductive Medicine” Women with PCOS have a higher risk of diabetes, heart problems, certain cancers, and mental health issues, but early treatment can help manage these risks.
34 citations
,
January 2014 in “Indian Dermatology Online Journal” Hair loss linked to metabolic issues and insulin resistance; early assessment may reduce future health risks.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
33 citations
,
September 2014 in “Reproductive Biology and Endocrinology” High afamin levels are linked to metabolic syndrome and may predict its development in women with insulin resistance.
33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.