3 citations
,
August 2021 in “European journal of medical research” Microbial biofilms may cause red scrotum syndrome.
2 citations
,
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.
2 citations
,
June 2022 in “Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica” Understanding cultural hair care practices is essential for improving hair health in the African American population.
2 citations
,
November 2018 in “Modern Applied Science” The method accurately detects and removes hair from skin images to improve melanoma diagnosis.
June 2026 in “Frontiers in Medicine” Hair-loss trials have increased, but need more diverse participants and standardized measures.
More hair-loss studies are needed with standardized outcomes and diverse participants.
March 2026 in “Journal for ImmunoTherapy of Cancer” Long-term data and a team approach are needed to manage chronic side effects from cancer treatments.
September 2008 in “Seminars in Oncology” 12 citations
,
May 2009 in “Ophthalmic plastic and reconstructive surgery” Multiple pilomatrixoma may indicate Turner syndrome.
September 2024 in “International Journal of Contemporary Pediatrics” A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
October 2023 in “BMJ Case Reports” Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
4 citations
,
October 2019 in “Case Reports” A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
13 citations
,
July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
October 2013 in “International Journal of Pediatric Endocrinology/International journal of pediatric endocrinology” A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
9 citations
,
February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
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.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
5 citations
,
November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
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.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
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.
48 citations
,
September 1993 in “The journal of experimental zoology/Journal of experimental zoology” Melatonin treatment started hair growth in goats and affected their hormone levels.