26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
13 citations
,
June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.
30 citations
,
October 1994 in “Journal of Cutaneous Pathology” Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
1 citations
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April 2014 in “Journal of the American Geriatrics Society” Diagnosing mycosis fungoides, a rare skin cancer, is difficult in elderly adults and requires careful examination to avoid mistaking it for less serious skin conditions.
January 2023 in “Faculty of 1000 Research Ltd” TB lymphadenitis can occur in people with weakened immune systems, like those with SLE.
1 citations
,
January 2020 in “E3S web of conferences” The study found that injecting spores directly into rabbit skin effectively caused fungal skin infections, with symptoms worsening over time.
September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
November 2023 in “Skin Appendage Disorders” A rare scalp condition can occur due to leukemia affecting the skin.
3 citations
,
June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
1 citations
,
January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
January 2009 in “Nova Science Publishers (Nova Science Publishers, Inc.)” Tick bites cause skin damage and long-lasting reactions.
August 2022 in “Case reports in medicine” Long eyelashes in a patient were an unusual sign of systemic lupus erythematosus.
2 citations
,
March 2012 in “Hiroshima University Acedemic Information Repository (Hiroshima University)” Kainar syndrome symptoms may be linked to nuclear test exposure effects.
November 2025 in “Journal of Investigative Dermatology” PCFCL may have unrecognized subtypes and needs more research.
October 2021 in “European journal of cancer” Repeated biopsies are crucial for managing lupus panniculitis when initial treatments fail.
1 citations
,
June 2022 in “International Journal of Infectious Diseases” A fungal infection was successfully treated with oral and topical antifungals after being misdiagnosed and worsened by corticosteroids.
16 citations
,
February 2018 in “Journal of The American Academy of Dermatology” Scalp biopsies from dermatomyositis patients show chronic hair loss without scarring, with mucin and blood vessel changes being very common.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
September 2008 in “Pediatric Rheumatology” Two children with lysinuric protein intolerance showed symptoms similar to lupus.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
February 2018 in “BMJ case reports” An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
54 citations
,
January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
December 2024 in “JAAD International”