CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene.

CEDNIK (CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) syndrome is a neuroichthyotic syndrome characterized by a constellation of clinical features including severe developmental retardation, microcephaly, and facial dysmorphism. Here, we report the first case of CEDNIK syndrome from India presenting with characteristic clinical features and harboring a novel mutation of SNAP29 gene.

Pinch of salt: A modified technique to treat umbilical granuloma.

BACKGROUND: Umbilical granuloma is an overgrowth of granulation tissue following the separation of umbilical cord. Treatment options for this common entity are limited and have side effects such as chemical burns. In this study, we present a novel modification of the salt application method to treat infants with umbilical granuloma. METHODS: Seventeen infants were recruited in our study after institutional ethics committee approval and consent from the parents. The area of application was cleaned, and common table salt was carefully applied over the lesion. The granuloma was then occluded with surgical adhesive tape for 24 hours. Cases were followed up the next day to remove the occlusive tape and for assessment of improvement. RESULTS: All seventeen cases responded well to this approach with complete resolution of lesions at 24 hours. Small clotlike shrunken tissue was found at the site of granuloma, which was easily scraped off during gentle cleansing. No major complication or recurrence was noted in 3 months of follow-up. CONCLUSION: Complete resolution of umbilical granuloma can be achieved with a single, clinic-based application of salt under occlusion for 24 hours. Salt causes shrinkage of granuloma inside occluded hyperosmolar chamber by desiccant effect. The salient features of this method include ease of application, low cost of treatment, accurate one-time physician-controlled application, and complete and rapid resolution without complication.

Comparative Study of Efficacy of Intralesional Purified Protein Derivative (PPD) Versus Intralesional Measles, Mumps, and Rubella (MMR) Vaccine in Management of Multiple Viral Warts.

Background: Multiple viral warts represent a frustrating challenge for both patients and physicians. Management is difficult, primarily due to recalcitrance to standard therapy and high recurrence rates. Recently, intralesional antigen immunotherapy has shown promising efficacy in the treatment of warts. Objective: The aim of our study was to compare efficacy and safety of intralesional PPD versus measles, mumps, and rubella (MMR) vaccine in the management of multiple warts. Materials and Methods: One hundred and five patients having multiple warts were randomly divided into group A (PPD), group B (MMR) and group C (normal saline), with 35 patients in each group. In each group, the largest wart was injected intralesionally with 0.1 mL of vaccine at 2 weeks interval until complete clearance or for a maximum of 8 weeks. Results: Out of 105 patients enrolled in the study, 27, 25, and 21 patients completed the study in group A, group B, and group C, respectively. Rest were lost to follow up due to various reasons such as pain and long treatment duration. Complete clearance was seen in 14 patients (51.85%) in group A, 14 patients (56%) in group B, and 0 patients in group C. Partial clearance was seen in four patients (14.81%) in group A, four patients (16%) in group B, and three (14.28%) patients in group C. Nine patients (33.33%) in group A, seven patients (28%) in group B and 18 (85.71%) patients in group C did not respond to immunotherapy. Conclusions: Intralesional immunotherapy by both vaccines is a promising, effective, and safe treatment modality with MMR having slight edge.

Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation.

Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation. We report a new variant of HSAN (Type IX) in two siblings (of Indian origin) with a novel mutation of SCN11A gene and a distinct clinical phenotype.