Dactylitis in sarcoidosis

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Atenolol treatment for severe Infantile Hemangiomas: a single-centre prospective study

Abstract

Infantile hemangiomas (IHs) are common benign vascular tumors of infancy with an incidence of 4-5% ¹. The majority of IHs are self-limited, though in approximately 10% of patients, when their lesions compromise vital and sensory functions or cause disfigurement, medical treatment is warranted ^2,3. Τhe most exciting development in the treatment for IHs over the last decade has been the discovery of propranolol's effects during the proliferative phase of the hemangioma cycle ⁴.

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Exome sequencing identifies a TCF4 mutation in a Chinese pedigree with symmetrical acral keratoderma

Abstract

Background

Symmetrical acral keratoderma (SAK) is a rare skin disorder and its pathogenesis and inheritability are unknown.

Objectives

To investigate the inheritance and pathogenesis of SAK.

Methods

Four SAK cases occurred in a four-generation Chinese family. Exome sequencing identified SNPs with potential SAK related mutations, and a potentially responsible gene (Transcription factor 4, TCF4) was identified. TCF4 was then sequenced in all 11 family members and pedigree analysis was performed. Histopathology and immunohistochemistry evaluated TCF4 expression in skin lesions. The gene mutation was investigated in human keratinocytes for keratin related protein expression.

Results

A novel heterozygous missense mutation, c.85C>A (p.Pro29Thr) was found in TCF4. The mutation showed autosomal dominant inheritance and perfectly cosegregated with the SAK phenotype in all family members. In skin lesions TCF4 was present in the cytoplasm and membranes of the basal layer, the stratum spinosum, and the stratum granulosum of the epidermis. The mutant TCF4 induced overexpression of differentiation markers including KRT1, KRT14, loricrin and involucrin.

Conclusions

A SAK related gene mutation in TCF4 may function through transcriptional regulation of keratin.

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Tonsillectomy-Comparative Study of Various Techniques and Changing Trend

Abstract

Tonsillectomy is a major surgical procedure in terms of volume in the general otolaryngological practice. It is a 3000-year-old surgical operation, referred in Hindu medicine. There has been a conceptual change in the indications and surgical technique in the last 40 years. A comparative study between the various methods of tonsillectomy was done. The study was carried out in the single institutional set up by the same surgeon but using different techniques. The study aimed at comparing the intra-operative factors (blood loss, time taken for surgery), postoperative results (pain, bleeding, dehydration, time taken for complete healing), and other complications like vomiting and hospitalization time between different groups of surgical methods. This study was done in 2500 patients undergoing tonsillectomy with or without adenoid removal in a period of 35 years (1979–2013). The majority of the patients (approximately 41%) in the first half of this period underwent cold steel tonsillectomy whereas 39% underwent microdebrider assisted tonsillectomy. Microdebrider assisted tonsil surgery was done as day care procedure in 90%. In 21% of the patients, other methods viz coblation, radio frequency and laser were used. Microdebrider intracapsular tonsillectomy is associated with lower mortality and morbidity as compared to cold steel, coblation, electrodissection, laser and radio frequency.

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Report from the first European Dermato-Epidemiology Network forum

Summary

The first European Dermato-Epidemiology Network (EDEN) forum was held on 30–31 March 2017 in Madrid, Spain. Dermatoepidemiology describes the study of causes, prevention, health services research and evaluation of interventions of skin diseases. EDEN aims to promote high-quality research, share expertise and facilitate collaboration. These aims were achieved during the EDEN forum by including a preconference course on skin cancer epidemiology; having excellent world-leading guest speakers on causality, quality of care, pharmacoepidemiology and missing data analysis; and including delegates who presented and discussed innovative research findings. The meeting brought together delegates from 11 different countries. We welcome everyone with an interest in clinical research and epidemiology related to skin disease to attend next year's meeting in March 2018 in Berlin.

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'Follow the Money' in Extreme Skin Cancer Care

Specialists report a rise in every ultraviolet-related type of skin cancer, but controversy over excessive treatment persists.
Medscape Medical News

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Neonatal intestinal obstruction associated with situs inversus totalis: two case reports and a review of the literature

The association of neonatal intestinal obstruction with situs inversus totalis is extremely rare with only few cases reported in the literature to date. This association poses dilemmas in management. We presen...

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