ABSTRACT
Drug-induced hypersensitivity syndrome (DIHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe drug adverse reaction with skin eruption and visceral organ involvement. The characteristic clinical features of DIHS/DRESS are reactivation of human herpesviruses (HHV) and the development of autoimmune diseases, but their pathogenesis and associations are not yet understood. Here, we report a 66-year-old man who presented with fever, generalized erythema, diffuse lymphadenopathy, and diarrhea after 3 weeks of treatment with zonisamide. Reactivation of HHV-6 and cytomegalovirus (CMV) was detected during the clinical course. The patient was diagnosed with DIHS/DRESS and treated with systemic prednisolone, i.v. immunoglobulin therapy, and ganciclovir. However, severe enterocolitis persisted for 6 months. A series of examinations revealed features of both CMV enterocolitis, as indicated by identification of a few CMV-positive cells on immunohistochemical analysis, and graft-versus-host disease (GVHD)-like enterocolitis indicated by orange-peel appearance on endoscopic examination and histopathological loss of goblet cells. Intractable enterocolitis continued and the patient finally died of pneumonia. An autoimmune predisposition in DIHS/DRESS patients in combination with CMV reactivation was considered to trigger the severe enterocolitis of this case that showed GVHD-like features of the gastrointestinal tract. GVHD-like organ damage is a pathological condition rarely observed in DIHS/DRESS but should be recognized as one of the most severe complications of the disease.
Subject(s)
Cytomegalovirus Infections , Drug Hypersensitivity Syndrome , Drug Hypersensitivity , Enterocolitis , Eosinophilia , Graft vs Host Disease , Aged , Cytomegalovirus , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/diagnosis , Drug Hypersensitivity Syndrome/complications , Drug Hypersensitivity Syndrome/etiology , Enterocolitis/chemically induced , Enterocolitis/diagnosis , Eosinophilia/chemically induced , Eosinophilia/complications , Graft vs Host Disease/complications , Graft vs Host Disease/drug therapy , Humans , MaleSubject(s)
Amniotic Band Syndrome/genetics , Collagen Type VII/genetics , Epidermolysis Bullosa Dystrophica/genetics , Amniotic Band Syndrome/diagnosis , Ankle , Epidermolysis Bullosa Dystrophica/diagnosis , Fathers , Genetic Testing , Hand/diagnostic imaging , Humans , Infant, Newborn , Male , Mutation, Missense , Point Mutation , Radiography , Sequence Analysis, DNAABSTRACT
Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis of the palm and the sole skin. Hereditary PPK are divided into four groups--diffuse, focal, striate and punctate PPK--according to the clinical patterns of the hyperkeratotic lesions. Each group includes simple PPK, without associated features, and PPK with associated features, such as involvement of nails, teeth and other organs. PPK have been classified by a clinically based descriptive system. In recent years, many causative genes of PPK have been identified, which has confirmed and/or rearranged the traditional classifications. It is now important to diagnose PPK by a combination of the traditional morphological classification and genetic testing. In this review, we focus on PPK without associated features and introduce their morphological features, genetic backgrounds and new findings from the last decade.
Subject(s)
Keratoderma, Palmoplantar/diagnosis , Keratoderma, Palmoplantar/genetics , Diagnosis, Differential , Humans , Keratoderma, Palmoplantar/classification , Mutation , PhenotypeSubject(s)
Nephrotic Syndrome/diagnosis , Rare Diseases/diagnosis , Yellow Nail Syndrome/complications , Yellow Nail Syndrome/diagnosis , Adult , Antibodies, Monoclonal, Murine-Derived/metabolism , Bronchiolitis/diagnostic imaging , Bronchiolitis/drug therapy , Bronchiolitis/etiology , Dermis/immunology , Fatigue/etiology , Glucocorticoids/therapeutic use , Humans , Hypoalbuminemia/etiology , Kidney/pathology , Male , Nephrotic Syndrome/blood , Nephrotic Syndrome/complications , Nephrotic Syndrome/pathology , Prednisolone/therapeutic use , Proteinuria/etiology , Rare Diseases/drug therapy , Rare Diseases/microbiology , Rare Diseases/pathology , Tocopherols/therapeutic use , Tomography, X-Ray Computed , Vitamins/therapeutic use , Weight Gain , Yellow Nail Syndrome/drug therapy , Yellow Nail Syndrome/pathologySubject(s)
Hand Dermatoses/pathology , Leukemia/pathology , Skin/pathology , Sweet Syndrome/pathology , Diagnosis, Differential , Female , Humans , Middle AgedSubject(s)
Hand Dermatoses/pathology , Leukemia/pathology , Skin/pathology , Sweet Syndrome/pathology , Diagnosis, Differential , Female , Humans , Middle AgedABSTRACT
Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous disorder. Using a customized targeted exome-sequencing system we identified nonsense mutations in TNXB in a patient who had recurrent gastrointestinal perforation due to tissue fragility. This case highlights the utility of targeted exome sequencing for the diagnosis of congenital diseases showing genetic heterogeneity, and the importance of attention to gastrointestinal perforation in patients with tenascin-X deficient type EDS.