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Clinical and genetic differences between pustular psoriasis subtypes.
J Allergy Clin Immunol
March 2019
Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, United Kingdom.
Background: The term pustular psoriasis indicates a group of severe skin disorders characterized by eruptions of neutrophil-filled pustules. The disease, which often manifests with concurrent psoriasis vulgaris, can have an acute systemic (generalized pustular psoriasis [GPP]) or chronic localized (palmoplantar pustulosis [PPP] and acrodermatitis continua of Hallopeau [ACH]) presentation. Although mutations have been uncovered in IL36RN and AP1S3, the rarity of the disease has hindered the study of genotype-phenotype correlations.
View Article and Find Full Text PDFAnti-Ro52 antibodies, antisynthetase antibodies, and antisynthetase syndrome.
Clin Rheumatol
April 2008
Rheumatology Department, Royal Adelaide Hospital, North Tce, Adelaide, Australia.
We present a case of antisynthetase syndrome manifesting with interstitial lung disease, mechanic's hands, nailfold abnormalities, and subclinical myositis, in the presence of antibodies to the aminoacyl tRNA synthetase PL-12 and also to Ro52. Antibodies to Ro52 have been recently associated with idiopathic inflammatory myositis, but there have only been occasional reports of this antibody occurring in association with aminoacyl tRNA synthetases, including PL-12. Our case adds to the descriptions of the concurrence of antibodies to PL-12 and Ro52.
View Article and Find Full Text PDFPapillon-Lefèvre syndrome with albinism: a review of the literature and report of 2 brothers.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
December 2005
Family Dental Clinic, Doha, State of Qatar.
Background: Papillon-Lefèvre syndrome (PLS) is a very rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset of destructive periodontitis leading to premature loss of both primary and permanent dentitions. The etiopathogenesis of the condition suggests that there is a genetic basis for susceptibility to specific virulent pathogens. Variation in the clinical presentation of PLS has recently been observed.
View Article and Find Full Text PDFPunctate keratoderma and spastic paralysis occurred in three generations of a family. Several members had keratoderma of the palms and soles or spastic paralysis or both. The family history was consistent with autosomal-dominant inheritance.
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