12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
2 citations
,
April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
4 citations
,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
7 citations
,
August 2024 in “Marine Drugs” Ultrasound can safely produce beneficial carrageenan from red algae.
June 2024 in “International journal of biological macromolecules” The hydrogel effectively stops bleeding and heals diabetic wounds quickly.
95 citations
,
September 2012 in “Oman Medical Journal” Mutations in keratin genes can cause skin and mucosa disorders.
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
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.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
1 citations
,
January 2013 Glucosylceramides are essential for healthy skin and proper wound healing.
May 2025 in “The Journal of Rheumatology” Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
4 citations
,
May 1981 in “Australian Journal of Biological Sciences” Rat hair follicle cells can produce and release various glycosaminoglycans over time.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
2 citations
,
September 2004 in “Experimental Dermatology” Desmosomal adhesion is essential for healthy skin structure and function.
1 citations
,
January 2024 in “Clinical Cosmetic and Investigational Dermatology” Recognizing and treating oral lichen sclerosus is important, but treatment guidelines are lacking.
18 citations
,
November 2018 in “Annals of the Academy of Medicine Singapore” Sulfasalazine can cause severe allergic reactions leading to long-term autoimmune issues like hair loss and skin discoloration.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
18 citations
,
June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
17 citations
,
May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
87 citations
,
July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
7 citations
,
May 1995 in “The journal of investigative dermatology/Journal of investigative dermatology” 113 citations
,
June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
10 citations
,
May 2025 in “Nutrition & Metabolism” Metabolic syndrome is linked to skin diseases, requiring integrated treatment and monitoring.