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.
8 citations,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
April 2016 in “Journal of The American Academy of Dermatology” A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
11 citations,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
54 citations,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” Keratins are important for skin cell health and their problems can cause diseases.
April 2016 in “Journal of The American Academy of Dermatology” Certain skin diseases are linked to Agent Orange and similar chemicals; veterans should be screened and informed about uncertain risks, and current data doesn't link spironolactone with breast cancer.
77 citations,
July 2013 in “Best Practice & Research in Clinical Obstetrics & Gynaecology” Menopause reduces skin collagen and elasticity, and while estrogen therapy can help, its risks require careful consideration.
38 citations,
March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
33 citations,
October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
14 citations,
April 2017 in “American Journal of Transplantation” Skin problems from transplant drugs are common and need careful management in organ transplant patients.
5 citations,
April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
January 2023 in “Springer eBooks” Epidermolysis bullosa is an inherited condition causing fragile skin with no cure, managed by wound care and experimental treatments show promise.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
September 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Loss of Desmocollin 3 in mice causes skin blisters and hair loss.
32 citations,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
12 citations,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
September 2007 in “Journal of Investigative Dermatology” ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.
52 citations,
June 1981 in “International Journal of Dermatology” Oral retinoids are effective for severe skin conditions but require careful use due to side effects.
32 citations,
April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
1 citations,
December 2017 in “Research for Rural Development/Research for Rural Development (Online)” Neutered ferrets often develop hyperadrenocorticism, with symptoms like hair loss and lethargy, and androstenedione is a key indicator for diagnosis.
1 citations,
January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
2 citations,
January 2020 in “Brazilian Journal of Veterinary Medicine/Revista Brasileira de Medicina Veterinária” Sarolaner effectively treated feline demodicosis in a cat.
April 2017 in “Journal of Investigative Dermatology” Researchers created a skin graft that senses blood glucose and could treat diabetes using CRISPR-edited stem cells.
9 citations,
March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
106 citations,
December 2015 in “Journal of The American Academy of Dermatology” Correct skin biopsy techniques are crucial to avoid misdiagnosis of skin diseases.
65 citations,
March 2018 in “Journal of Dermatological Science” Skin problems can be caused or worsened by physical forces and pressure on the skin.
28 citations,
December 2006 in “Clinical lung cancer” Early recognition and management of skin side effects from new cancer therapies can prevent treatment delays.