4 citations
,
December 2001 in “Endoscopy” Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.
October 2024 in “Journal of the Endocrine Society” Bilateral salpingo-oophorectomy resolved hyperandrogenism in a postmenopausal woman with rare ovarian tumors.
2 citations
,
January 2018 in “European journal of pediatric surgery reports” A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
July 2012 in “American Journal of Clinical Pathology” Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
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.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
17 citations
,
May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
12 citations
,
June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
October 2024 in “Journal of the Endocrine Society” A rare ovarian tumor caused high testosterone in a postmenopausal woman, resolved by surgery.
1 citations
,
November 2016 in “Frontiers in neurology” Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
April 2020 in “Journal of the Endocrine Society” A rare ovarian tumor caused high male hormone levels, but surgery fixed it.
7 citations
,
July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
8 citations
,
November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
August 2019 in “Anais Brasileiros de Dermatologia”
January 2014 in “Progress of Digestive Endoscopy” Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
11 citations
,
May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
1 citations
,
December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
3 citations
,
January 2020 in “Acta Dermato Venereologica” Netherton Syndrome can cause severe skin lesions in rare cases.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
14 citations
,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
2 citations
,
August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
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.
3 citations
,
March 1966 in “Archives of Dermatology” Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
17 citations
,
January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
7 citations
,
March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
2 citations
,
January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.