1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
9 citations
,
January 2015 in “Indian Dermatology Online Journal” Early diagnosis and treatment of Kaposi varicelliform eruption are crucial to prevent severe complications.
24 citations
,
June 2015 in “Journal of Investigative Dermatology” aPKCλ is crucial for keeping hair follicle stem cells inactive and maintaining normal hair growth.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
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.
May 2025 in “Cermin Dunia Kedokteran” Leukokoria can signal Coats disease or other retinal issues, requiring early detection to prevent severe outcomes.
3 citations
,
May 2022 in “Pediatric Critical Care Medicine” The patient recovered well and returned to college without any lasting issues.
29 citations
,
June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
Skin changes are common in children with chronic kidney disease.
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.
17 citations
,
June 2016 in “Croatian Medical Journal” Patients with chronic graft-versus-host disease often have skin problems like vitiligo and alopecia areata.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
Children with chronic kidney disease often have skin, hair, and nail problems.
May 2012 in “Research and reports in neonatology” The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
86 citations
,
May 2005 in “Seminars in Arthritis and Rheumatism” Kawasaki Disease is rare and often missed in adults, who show different symptoms than children, and may benefit from early treatment.
1 citations
,
November 2024 in “AME Medical Journal” Vitamin C deficiency can persist in high-risk patients despite supplementation.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
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.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
87 citations
,
September 2006 in “Clinical Cancer Research” Protein Kinase C shows promise for cancer treatment, but more research is needed to develop effective inhibitors.
28 citations
,
September 2014 in “Journal of Veterinary Internal Medicine” VDC-1101 shows potential as a treatment for canine cutaneous T-cell lymphoma.
4 citations
,
January 2021 in “Journal of Clinical Medical Research” c-Kit is important for heart regeneration and cancer development.
December 2024 in “PubMed” A man with a rare disease experienced late hair whitening and loss, but hair color returned, suggesting a good outlook.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
October 2023 in “European Journal of Dermatology” Combining hair transplantation with PRP is more effective for treating hair loss than hair transplantation alone.
10 citations
,
January 2013 in “Journal of skin cancer” PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.