November 2024 in “Rheumatology Advances in Practice” A thorough, team-based approach and clear communication improve outcomes in complex neuropsychiatric lupus cases.
February 2021 in “Pakistan Armed Forces Medical Journal” A rare skin condition usually found near the eyes was found on a farmer's scalp.
20 citations
,
March 1985 in “Journal of The American Academy of Dermatology” Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
3 citations
,
January 2020 in “JAAD Case Reports” A girl had two rare hair conditions that helped understand their overlap.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
13 citations
,
July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
4 citations
,
January 2011 in “European journal of dermatology/EJD. European journal of dermatology” A boy had a rare scalp condition with thickened skin and different-colored hair.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
May 2025 in “The Journal of Rheumatology” Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
5 citations
,
October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
14 citations
,
June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
1 citations
,
June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
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.
17 citations
,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
4 citations
,
September 2021 in “Dermatopathology” The conclusion is that Erosive Pustular Dermatosis of the Scalp is a rare condition best treated with strong topical steroids and sometimes systemic treatment.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
1 citations
,
January 2014 in “Health Renaissance” Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.
84 citations
,
June 1970 in “Journal of Investigative Dermatology”