1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
5 citations
,
June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
20 citations
,
January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
December 2024 in “European journal of medical research” 2 citations
,
January 2023 in “Dermatologic Therapy” CEFFE injections effectively and safely improve postinflammatory hyperpigmentation.
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
3 citations
,
April 2009 in “Congestive Heart Failure” Sympathetic activation and venous tone are crucial for heart failure symptoms.
2 citations
,
May 1979 in “PubMed” Monilethrix is not caused by a metabolic defect.
37 citations
,
January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
88 citations
,
August 2014 in “PLOS genetics” Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
80 citations
,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
53 citations
,
July 2011 in “Biomaterials” Human liver cells stick to hair protein materials mainly through the liver's asialoglycoprotein receptor.
23 citations
,
August 1987 in “PubMed” The ferret had hyperadrenocorticism and other health issues like heart, liver, and kidney problems.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
83 citations
,
May 2011 in “European Journal of Dermatology” Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
1 citations
,
January 2024 in “Pediatric Dermatology” The boy's scurvy symptoms improved with vitamin C treatment, highlighting the need for a balanced diet.
Early recognition and zinc treatment can effectively improve acrodermatitis symptoms.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
18 citations
,
December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
4 citations
,
January 2006 in “PubMed” DHT deficiency may disrupt rat epididymis function by affecting estrogen receptors.
101 citations
,
August 2010 in “PLoS ONE” Selenoproteins are crucial for healthy skin and hair.
15 citations
,
November 2012 in “International Journal of Dermatology” The conclusion is that hair loss from CCCA may be genetic and not solely caused by hair grooming practices.
1 citations
,
April 2016 in “Journal of Investigative Dermatology” Zinc deficiency causes reversible hair loss by disrupting hair growth and stem cell function.
34 citations
,
July 2013 in “Clinical Cosmetic and Investigational Dermatology” Erosive pustular dermatosis is a rare skin disease that's hard to treat and affects the scalp or legs.