July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
February 2026 in “Journal of Cutaneous and Aesthetic Surgery” Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.
1 citations
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January 1999 in “Dermatology” 3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
April 2018 in “Nasza Dermatologia Online” People with Down's syndrome are more likely to have syringomas.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
157 citations
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August 2010 in “Lupus” The document concludes that recognizing and treating cutaneous lupus erythematosus early is crucial for managing the skin and potential systemic symptoms.
132 citations
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July 2000 in “Lupus” In Italian patients with lupus, the most common skin issue was chronic cutaneous lupus, especially discoid lesions, and nonspecific skin problems occurred in about a third of those with systemic lupus, mainly during active disease.
34 citations
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June 2007 in “The Journal of Dermatology” Most Korean systemic lupus erythematosus patients experienced hair loss, often as non-scarring diffuse hair loss, with non-scarring patch alopecia also common.
13 citations
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November 2005 in “Veterinary Dermatology” A dog's skin calcification condition resolved without treatment after a bacterial infection.
10 citations
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January 2003 in “Journal der Deutschen Dermatologischen Gesellschaft” Hydroxychloroquine helped improve scleromyxoedema in patients, but caused side effects in some.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
5 citations
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January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
September 2017 in “Dermatologic Surgery”
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
27 citations
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June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
2 citations
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July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
A new genetic mutation was found causing hair and eye issues in a boy.
30 citations
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May 2005 in “Pediatric dermatology” Some families have a genetic condition where they are born with irregular scalp defects.
39 citations
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
20 citations
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January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
August 2023 in “Rheumatology” Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
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.
27 citations
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October 2013 in “Experimental dermatology” Scleroderma patients have lower hair miR-29a levels.
14 citations
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March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.