Background: Toxicity is rarely considered in the differential diagnosis of conjunctivitis, but we present here a new form of toxic conjunctivitis with unusual clinical features. Between 2010 and 2013, a new clinical presentation of chronic conjunctivitis unresponsive to normal treatment was noted within a Primary Care Ophthalmology Service.
Methods: Retrospective review of case records and histopathology results.
Importance: Epidermolysis bullosa (EB) pruriginosa is a rare variant of dystrophic EB. It may manifest late in life and is characterized by intense pruritus, resulting in a phenotype resembling acquired inflammatory dermatoses. Dermatopathology textbooks include hereditary forms of EB among the "cell-poor" list of subepidermal blistering disorders.
View Article and Find Full Text PDFHarlequin ichthyosis (HI) is a rare autosomal recessive skin disorder. No orthopaedic procedure has previously been described on a patient with HI. We report the case of a 17-year-old patient with HI who presented with bilateral juvenile idiopathic arthritis of the hips who underwent bilateral total hip replacements.
View Article and Find Full Text PDFObjective: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients.
Design: Multicenter, retrospective, questionnaire-based survey.
Setting: Dermatology research institute.
Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have been described, the genetic basis underlying the clinical and cellular phenotypes of HI has yet to be determined. By use of single-nucleotide-polymorphism chip technology and homozygosity mapping, a common region of homozygosity was observed in five patients with HI in the chromosomal region 2q35.
View Article and Find Full Text PDFActa Derm Venereol
December 2003
Given the long purported anecdotal association between rosacea and gastrointestinal disease, the discovery that Helicobacter pylori causes gastritis and duodenal ulcer disease has led to a hypothesized role for this organism in the aetiology of rosacea. We conducted a case-series study of 49 patients to assess the potential association between severity of rosacea and direct and serological evidence of H. pylori infection.
View Article and Find Full Text PDFStudy Design: A case of chronic low back pain caused by a glomus tumor that persisted more than 30 years is presented.
Objective: To emphasize the need to consider skin tumors in the differential diagnosis of low back pain.
Summary Of Background Data: Chronic low back pain can be caused by a myriad of factors.