research Cutaneous Lupus Erythematosus
Cutaneous lupus erythematosus is a common skin condition in lupus, affecting mostly young adult females.
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600-630 / 1000+ results research Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature
A rare skin condition causes red, dark, bumpy facial lesions.
research Lupus-Associated Knee Pain: An Atypical Presentation of Systemic Lupus Erythematosus in a Young Male
SLE can occur in young males and cause knee pain.
research 259 Scalp hair follicle dermal sheath fibroblasts express genes associated with promotion of skin integrity/wound healing and prevention of autoimmune responses in Recessive Dystrophic Epidermolysis Bullosa
Scalp hair follicle cells help protect and heal skin in certain skin conditions.
research 647 Alternative splicing factor Esrp1 controls homeostasis of skins by regulating barrier formation and function
Esrp1 is important for skin health by helping form and maintain the skin barrier.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Familial Dyskeratotic Comedones: A Case Report and Literature Review
Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
research [Wooly hair syndrome. Clinical and microscopic study].
Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research HHV-6A and HHV-6B in Drug-Induced Hypersensitivity Syndrome/Drug Reaction with Eosinophilia and Systemic Symptoms
The document concludes that reactivation of herpesviruses, especially HHV-6, is linked to severe symptoms and complications in drug-induced hypersensitivity syndrome.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Protein-Losing Enteropathy, Anasarca and Dermatological Manifestations on People of Advanced Age: Don't Overlook the Diagnostic Hypothesis of a Cronkhite Canada Syndrome
Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
research Case of Cronkhite Canada syndrome shows improvement with enteral supplements.
Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
research Werner′s syndrome
Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
research Scarring alopecia and nail loss in a patient with epidermolysis bullosa acquisita
Untreated epidermolysis bullosa acquisita can cause total hair and nail loss.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research 130 Dermal IgA deposition targeted against Transglutaminase 3 in Dermatitis herpetiformis risk groups
Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
research Incomplete Sjögren-Larsson Syndrome in Two Japanese Siblings?
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Soft-tissue calcification in systemic lupus erythematosus
Soft-tissue calcification is rare in systemic lupus erythematosus.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Genetics of Progeria and Aging
Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
research Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia
A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
research Hair Shaft Videodermoscopy in Netherton Syndrome
Trichoscopy can diagnose Netherton syndrome without pulling hairs.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.