Vulvovaginal Involvement in Pediatric Stevens-Johnson Syndrome: A Case Series.

BACKGROUND: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening spectra of mucocutaneous delayed hypersensitivity reactions. Prodromal viral-like symptoms are followed by a characteristic diffuse rash caused by keratinocyte apoptosis and epidermal detachment. CASES: Three adolescents were admitted with SJS/TEN and vulvovaginal involvement following initiation of lamictal, bactrim, and phenobarbital. The patients received intravenous immunoglobulin and intravenous steroids. One patient received etanercept. Topical emollients and strict perineal hygiene were initiated. No permanent sequelae were noted following vaginoscopy. SUMMARY AND CONCLUSIONS: Vulvovaginal involvement in SJS/TEN can occur and may result in permanent architectural changes. Basic management includes withdrawal of causative medication, intravenous steroids, intravenous immunoglobulin (IVIG), and supportive care. Early initiation of perineal hygiene, vaginal barrier creams, and menstrual suppression should be employed. Vaginoscopy may be used to document full recovery.

Clinical course of sly syndrome (mucopolysaccharidosis type VII).

BACKGROUND: Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of ß-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data. METHODS: We have conducted a survey of physicians to document the medical history of patients with MPS VII. The survey included anonymous information on patient demographics, family history, mode of diagnosis, age of onset, signs and symptoms, severity, management, clinical features and natural progression of the disease. RESULTS: We collected information on 56 patients from 11 countries. Patients with MPS VII were classified based on their phenotype into three different groups: (1) neonatal non-immune hydrops fetalis (NIHF) (n=10), (2) Infantile or adolescent form with history of hydrops fetalis (n=13) and (3) Infantile or adolescent form without known hydrops fetalis (n=33). Thirteen patients with MPS VII who had the infantile form with history of hydrops fetalis and survived childhood, had a wide range of clinical manifestations from mild to severe. Five patients underwent bone marrow transplantation and one patient underwent enzyme replacement therapy with recombinant human GUS. CONCLUSIONS: MPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity. Most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. In these respects it resembles MPS I and MPS II. In MPS VII, however, one unique and distinguishing clinical feature is the unexpectedly high proportion of patients (41%) that had a history of NIHF. Presence of NIHF does not, by itself, predict the eventual severity of the clinical course, if the patient survives infancy.