Netherton syndrome associated with growth hormone deficiency.

Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by ichthyosiform scaling, hair abnormalities, and variable atopic features. Mutations in the serine protease inhibitor Kazal type 5 (SPINK5) gene leading to lymphoepithelial Kazal-type-related inhibitor (LEKTI) deficiency cause NS. Growth retardation is a classic feature of NS, but growth hormone (GH) deficiency with subsequent response to GH therapy is not documented in the literature.

[Evaluation of serological status of children following hepatitis B vaccination during infancy].

The aims of this study were to determine anti-HBs positivity in children who had received three doses of hepatitis B vaccine during infancy and to evaluate the factors that may affect the serological status. Local ethics committee approval was obtained at the beginning of the study. The study was carried out between December 2005 and October 2007 among children attending the outpatient clinics of medical school hospital.

A congenital proximal tracheoesophageal fistula 14 years after surgical repair of esophageal atresia with distal tracheoesophageal fistula.

Congenital esophageal atresia with proximal and distal tracheoesophageal fistula occurs very rarely. This report describes late diagnosis of a congenital proximal fistula in a 14-year-old girl who underwent surgical repair of a congenital esophageal atresia with distal tracheoesophageal fistula on her first day of life and suffered recurrent bouts of lower airway infections and chronic cough, with the diagnosis of asthma in later childhood.

Prevalence and risk factors for allergic rhinitis in primary school children.

Objective: Allergic rhinitis is a common chronic illness of childhood. The aim of the study was to evaluate the prevalence and risk factors of allergic rhinitis in 6-12-year-old schoolchildren in Istanbul.

Methods: A total of 2500 children aged between 6 and 12 years in randomly selected six primary schools of Istanbul were surveyed by using the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire between April and May 2004.

Are physicians aware of obstructive sleep apnea in children?

Background And Purpose: Childhood obstructive sleep apnea (OSA) affects 1-3% of preschool children. If left untreated, it can result in serious morbidity including growth retardation, cor pulmonale, and neurocognitive deficits, such as poor learning and behavioral problems. Early recognition and treatment is important to prevent morbidity and sequela and to provide better quality of life both for the child and his or her family members.

Netherton syndrome: report of identical twins presenting with severe atopic dermatitis.

We report the cases of 4-year-old identical twin sisters who presented with severe atopic dermatitis with intractable skin manifestations and multiple food allergies. Netherton syndrome (NS) (OMIM 256500) was suspected due to very high serum IgE levels, growth retardation, severe food allergies and typical hair finding (trichorrhexis invaginata). A definite diagnosis was made by genetic analysis.