10 citations
,
January 2024 in “Heliyon” Dexpanthenol helps protect the heart from damage by reducing inflammation and stress.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
9 citations
,
February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
January 2024 in “Wiadomości Lekarskie” Recent advancements in cardiac pacing improve heart function and reduce complications.
20 citations
,
October 2003 in “The Journal of Dermatology” DCP therapy causes side effects like weakness, flushing, headaches, and taste changes, but less frequently causes hypertension and diabetes.
February 2013 in “Pediatrics in Review” The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
October 2013 in “Journal of the American College of Cardiology” Autonomic dysfunction is common in hypertensives but may not cause diastolic dysfunction in resistant hypertension.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
21 citations
,
July 2019 in “Cardiovascular Research” High levels of male hormones in pregnant mice cause heart enlargement and poor heart function in their female babies.
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.
October 2025 in “Journal of the Endocrine Society” Surgery improved symptoms and normalized hormone levels in a woman with an adrenal tumor.
5 citations
,
January 2015 in “Dermatology” The report suggests that the same underlying issue in blood vessel support may cause angiokeratomas on both the scrotum and eyelids.
7 citations
,
January 2013 in “Hormone Research in Paediatrics” Ectopic adrenal rests can cause androgen excess after adrenalectomy and may need targeted surgery.
18 citations
,
November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
January 2022 in “Figshare” Dexamethasone increases androgen receptor activity in scalp cells, which might explain stress-related hair loss.
2 citations
,
June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
October 2023 in “Pediatric blood & cancer” Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.
April 2020 in “Journal of the Endocrine Society” A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.
1 citations
,
March 2022 in “Frontiers in Medicine” Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
October 2022 in “Amplla Editora eBooks”
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.