Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.

BACKGROUND: Epidermolysis Bullosa (EB) is a heterogeneous group of congenital blistering diseases that usually presents in the neonatal period. EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB). METHODS: We describe genetics of neonatal EB in Hong Kong. RESULTS: Two neonates of consanguineous Pakistani parents had the EB-Pyloric Atresia (EB-PA) variant. One had a 4 kb homozygous deletion of exon 19-25 of the ITGB4 gene, and the other with only a histopathological diagnosis. Both died of sepsis in infancy. Aberrant COL7A1 mutations in the dominant and recessive EB were described. Genetic analysis, together with histopathological classification is important to aid prognosis and counseling. JEB and EB-PA are associated with consanguinity and mortality during infancy. Morbidity and prognosis of the autosomal dominant DEB are optimistic. The autosomal recessive DEB is more severe, with neonatal onset and recurrent blistering. It is also associated with chronicity and malignant changes when the child reaches adulthood. CONCLUSION: Exact genetic diagnosis aids in counseling of the family concerning the prognosis in the affected child and the risk of affected children in future pregnancies.

Vastus Lateralis Muscle Free Flap for Skull Base Osteoradionecrosis in Nasopharyngeal Carcinoma.

Objectives To describe the first experience with a free vastus lateralis muscle-only flap to be used to cover and protect the exposed skull base and carotid artery from radiotherapy-induced skull base osteoradionecrosis (ORN). Design Retrospective review of a case series. Setting Tertiary academic medical center. Participants Post treatment nasopharyngeal carcinoma patients with skull base ORN. Main Outcome Measures Coverage of the internal carotid artery (ICA). Results Four patients underwent the procedure. Following the procedure, all patients were documented to have adequate viable soft tissue covering their ICA. Topical nasal steroids were prescribed to all patients as florid granulation tissue was noted to occur overlying the muscle flap in the early postoperative period. There were no flap failures. All patients noted an improvement in speech, cacosmia, and nasal crusting. No significant epistaxis occurred following surgery. Choanal stenosis was noted in three patients. Conclusion For skull base ORN resulting from the treatment of nasopharyngeal carcinoma (NPC) with radiotherapy that fails conservative management, an open approach to the nasopharynx, that allows debridement then placement of a vastus lateralis muscle-only free flap for coverage, offers a unique and viable approach to the management of this challenging condition.

Prospective clinical study of bleeding sites in idiopathic adult posterior epistaxis.

OBJECTIVES: The precise identification of the bleeding point is important to the efficient management of epistaxis. Our hypothesis was that the septum was the commonest bleeding site. STUDY DESIGN AND SETTING: This was a prospective clinical study of 50 consecutive adult idiopathic posterior epistaxis patients carried out in a busy teaching hospital. METHODS: The nasal cavity was inspected with endoscopy to identify the site of bleeding before any intervention. The location of bleeding sites was recorded on a proforma. RESULTS: Of bleeding sites posterior to the piriform fossa, 94 percent were identifiable, with 70 percent arising from the septum. CONCLUSIONS AND SIGNIFICANCE: This is the largest prospective study of the bleeding site in adult patients with posterior epistaxis and the only one with a well-defined population. The vast majority of posterior bleeding sites can be identified by endoscopy without general anesthesia. The septum should be examined closely in cases of idiopathic bleeding.

Extramammary Paget's disease in Chinese males: a 21-year experience.

BACKGROUND: Extramammary Paget's disease (EMPD) is a rare disease in Chinese males. Our objectives were to examine the results of our experience, to correlate them with the published literature, and thus to formulate improved management guidelines. METHODS: This was a retrospective analysis of all male patients with EMPD treated at our institution. We reviewed the patients and their case notes for data such as presenting symptoms, delay to diagnosis, incidence of concurrent malignancies, treatments given, and a variety of outcome measures, including the number of patients with recurrent or residual disease. RESULTS: The overall recurrence rate was 35%. The risk of recurrence was reduced if intraoperative frozen section analysis was used (25%) compared to simple wide local excision (60%). Wide local excision failed to excise the disease completely in 38%. There were no associated internal malignancies and no disease-related deaths in our sample. CONCLUSIONS: We recommend intraoperative frozen sections to reduce the risk of incomplete resection and to reduce the rate of recurrence. In our population, screening for internal malignancies can be restricted to select patients, e.g., those with perianal disease, those with invasive disease, and young patients.

Plasma cell-free DNA as an indicator of severity of injury in burn patients.

BACKGROUND: Raised levels of plasma cell-free DNA have been detected in various patient groups, including trauma patients. We hypothesized that plasma DNA is increased in burn patients and may represent an objective indicator of burn severity and have predictive as well as prognostic significance. METHODS: This was a prospective clinical study with full ethical approval. With informed consent, blood samples were collected from 28 burn patients within 24 h of injury and from 12 control subjects. Plasma cell-free DNA was measured by real-time quantitative polymerase chain reaction (PCR) assay for the beta-globin gene. Descriptive analysis, non-parametric data comparison tests (Mann-Whitney) and correlation tests (Spearman rank) were performed on the data. RESULTS: Samples were taken at a mean time of 5.7 h after injury from 13 patients with flame/flash burns and 15 patients with scalds. Median plasma DNA levels in the control, scald and flame/flash burn patient groups were 287, 648 and 2685 kilogenome-equivalents/L, respectively. Plasma DNA levels correlated with the length of hospital stay, but not with admission to the intensive care unit (ICU) nor the length of ICU stay. DNA levels correlated with the burn surface area (Spearman rank r = 0.54, p = 0.04) and the number of operations needed (Spearman rank r = 0.55, p = 0.03) for scalds, but not for flame/flash burns. CONCLUSIONS: Plasma DNA is increased after burn injury and is significantly correlated with some outcome measures, including the length of hospital stay. DNA levels are higher in flame/flash patients than in scald patients; the difference may provide an objective indication of burn depth and inhalation injury.