7 citations
,
August 2016 in “Nursing for Women's Health” To prevent and treat Hair-thread tourniquet syndrome in infants, keep a close eye on their limbs, manage maternal hair loss, and educate parents and healthcare providers.
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
3 citations
,
May 2013 in “Pediatric Dermatology” A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
6 citations
,
January 2018 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
February 2026 in “Clinical Cosmetic and Investigational Dermatology” A 7-year-old girl experienced temporary hair loss due to radiation, with signs of possible hair regrowth.
3 citations
,
February 2002 in “The American journal of psychiatry” Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
December 2008 in “The Internet journal of surgery” A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
February 2020 in “Open Access Macedonian Journal of Medical Sciences” The patient with severe hirsutism improved after being diagnosed with non-classic congenital adrenal hyperplasia and treated with corticosteroids.
15 citations
,
April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
November 2023 in “Gastroenterology” A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.
October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
September 2023 in “Bangladesh Journal of Neurosurgery” Stereotactic Radiosurgery is an effective non-invasive treatment for cerebral AVM, with successful outcomes and minimal side effects.
52 citations
,
September 2020 in “Cell Death and Disease” Overactive sonic hedgehog signaling worsens uterine scarring by reducing cell recycling.
May 2024 in “Clinical and experimental optometry”
7 citations
,
January 2014 in “Case reports in pediatrics” A baby's toe was severely damaged by a hair tourniquet, leading to bone and tendon damage, but improved after surgery and treatment.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
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.
A brain injury can lead to compulsive hair-pulling and psychosis-like symptoms, needing comprehensive treatment.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
1 citations
,
September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
8 citations
,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
3 citations
,
December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
January 2024 in “Frontiers in endocrinology” Treating early puberty with hormone therapy may increase the risk of polycystic ovary syndrome in adults.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
December 2022 in “Archives of Clinical Trials” Treating PCOS patients with HP HMG significantly raises the risk of ovarian hyperstimulation syndrome, needing careful dose management.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
October 2024 in “Journal of the Endocrine Society” Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.