75 citations
,
September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
20 citations
,
October 2005 in “Archives of Dermatological Research” 74 citations
,
February 2018 in “Journal of the American Academy of Dermatology” September 2023 in “Journal of the American Academy of Dermatology” Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
April 2026 in “Spectrochimica Acta Part A Molecular and Biomolecular Spectroscopy” June 2015 in “OhioLink ETD Center (Ohio Library and Information Network)” UVB exposure affects retinoid metabolism, which is important for skin cancer progression and treatment.
16 citations
,
September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
4 citations
,
March 2024 in “Journal of Investigative Dermatology” SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
48 citations
,
July 2023 in “Pediatric Dermatology” 13 citations
,
January 2021 in “The American journal of gastroenterology” Sirolimus effectively reduces lesions and improves quality of life in Blue Rubber Bleb Nevus Syndrome with manageable side effects.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
October 2023 in “International Journal of Science and Research (IJSR)” Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
372 citations
,
December 2004 in “Nature Genetics”
44 citations
,
February 2012 in “The journal of neuroscience/The Journal of neuroscience” Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
September 2022 in “Frontiers in Medicine” New treatments and drugs show promise for improving skin pigmentation and regeneration.
PmtHEE is a better model for studying pigmented skin because it includes melanocytes and shows improved cell differentiation.
January 2025 in “Indian Journal of Dermatopathology and Diagnostic Dermatology” Dermoscopy helps diagnose rare GLPLS in males.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
2 citations
,
May 2023 in “Photobiomodulation, photomedicine, and laser surgery” Light therapy is effective and safe for treating skin color disorders like vitiligo and dark spots.
32 citations
,
May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
4 citations
,
June 2020 in “BMC Ophthalmology” Minoxidil can cause a rare eye condition, but it was successfully treated with oral Eplerenone in one case.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
11 citations
,
December 2011 in “The Journal of Dermatology” 8 citations
,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Scarred skin in lichen planopilaris loses immune cells due to a decrease in a specific protein in skin cells.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
Melanocytes can regenerate around hair follicles in bullous pemphigoid, especially in patients with darker skin.