April 2024 in “Journal of burn care & research” Neck burn scar contracture recurrence is more likely with larger neck defects, and closer follow-up can help detect it sooner.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
January 2025 in “Journal of Clinical Case Studies” Undiagnosed Marfan syndrome can lead to serious health issues, so genetic counseling and avoiding heavy lifting are crucial.
9 citations
,
January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
7 citations
,
July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
4 citations
,
January 2010 in “Journal of Veterinary Medical Science” The analyses helped identify different skin diseases in the two dogs.
16 citations
,
September 2024 in “Science Translational Medicine” New scientific advancements offer hope for better treatments for skin fibrosis.
4 citations
,
November 2016 in “The Journal of Dermatology” Pili torti hair is fragile due to loose keratin filaments and weak disulfide bonds.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
1 citations
,
April 2009 in “PM&R” A multidisciplinary approach is crucial for treating stress fractures and related complications in athletes.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
9 citations
,
December 2015 in “Journal of Dermatological Case Reports” Narrowband UVB therapy significantly improved a child's rare skin condition.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
47 citations
,
November 1982 in “Journal of Cardiovascular Pharmacology” Nitrendipine and nifedipine effectively block muscle contractions, while papaverine relaxes them and minoxidil needs high amounts to work.
3 citations
,
November 2019 in “The American Journal of Dermatopathology” Widened sweat ducts are a very specific sign of scarring hair loss.
4 citations
,
October 2022 in “American journal of physiology. Heart and circulatory physiology” Higher DHT levels are linked to worse heart changes in severe aortic valve stenosis patients.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
October 1991 in “Archives of Dermatology” The woman has a skin condition involving nodules, scars, and hair loss.
37 citations
,
March 2005 in “Journal of Paediatrics and Child Health” A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
130 citations
,
January 2005 in “American Journal of Clinical Dermatology” Eating disorders like anorexia and bulimia cause skin problems, and dermatologists can help detect these disorders early for better treatment outcomes.
108 citations
,
October 2004 in “Anesthesiology” Preoperative pain assessment, regional anesthesia, and vitamin C can help prevent CRPS after surgery.
101 citations
,
January 1985 in “British Journal of Dermatology” Spironolactone is effective for treating acne, hirsutism, and androgenic alopecia in women with few side effects.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
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.
1 citations
,
January 1980 in “Archives of Dermatology” Syphilis chancres can be atypical, and fiber implantation for baldness is risky and often fails.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.