65 citations
,
March 2018 in “Journal of Dermatological Science” Skin problems can be caused or worsened by physical forces and pressure on the skin.
December 2024 in “Frontiers in Genetics” EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
13 citations
,
September 2019 in “Clinical, Cosmetic and Investigational Dermatology” Early treatment of EPDS can improve outcomes and reduce recurrence risk.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
9 citations
,
May 2013 in “JAMA Dermatology” Sunlight exposure improved a patient's skin condition, and there may be a link between a certain disease and skin growths; a leukemia treatment caused changes in hair color and growth.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
May 2014 in “Clinical and Experimental Dermatology” A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
32 citations
,
September 1989 in “Medical Clinics of North America” Skin problems are common in lupus, important for diagnosis, and can be triggered by sunlight.
1 citations
,
January 1999 in “Dermatology”
32 citations
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February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
23 citations
,
September 2014 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Laser treatments are the most effective for porokeratotic adnexal ostial nevus.
9 citations
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January 2021 in “Journal of the American Academy of Dermatology” 4 citations
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January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
8 citations
,
October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
January 2022 in “Indian Journal of Paediatric Dermatology” A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
8 citations
,
September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
6 citations
,
January 1997 in “Pediatric dermatology” The case suggests a possible link between severe acne and certain bone deformities.
56 citations
,
October 2010 in “Pediatric Clinics of North America” Epidermal nevi are skin cell clusters linked to various syndromes.
January 2019 in “Medicine Science | International Medical Journal” Children with different rheumatologic diseases have specific skin symptoms that can help with diagnosis.
August 2023 in “Rheumatology” Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
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.
54 citations
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February 2012 in “Pediatrics in Review” Pediatric systemic lupus erythematosus is a severe autoimmune disease in children requiring early diagnosis and comprehensive management.