Πέμπτη 1 Φεβρουαρίου 2018
Eosinophil Counts in the Small Intestine and Colon of Children Without Apparent Gastrointestinal Disease-a Meta-analysis
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NMDA-receptor Antagonism in Pediatric Pancreatitis: Use of Ketamine and Methadone in a Teenager With Refractory Pain
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Practice Differences in the Diagnosis and Management of Eosinophilic Esophagitis among Adult and Pediatric Gastroenterologists in Israel
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Should Giant Cell Hepatitis With Autoimmune Hemolytic Anemia Be Considered a Pediatric Autoimmune Liver Disease?
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Should Giant Cell Hepatitis With Autoimmune Hemolythic Anemia Be Considered A Pediatric Autoimmune Liver Disease?
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Survey on the Adherence to the 2009 NASPGHAN-ESPGHAN Gastroesophageal Reflux Guidelines by Brazilian Paediatricians
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CHILD syndrome: A modified pathogenesis-targeted therapeutic approach
Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis-targeted therapy have been developed. We subsequently chose to use the same pathogenesis-based therapy using a 2% cholesterol and 2% lovastatin cream with or without glycolic acid in two of our patients. Improvement in CHILD skin lesions was seen as early as 4 weeks after initiation. The addition of glycolic acid helped improve the penetrance of the cholesterol and lovastatin cream into the thick waxy scales. Our study confirms the efficacy of the pathogenesis-targeted therapy and introduces the possibility of modifying its formula by adding glycolic acid in order to improve the treatment.
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