Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects

02/14/2000 - "They provide animal models for the study of CHILD syndrome, a further human condition due to mutations in a gene of the cholesterol synthesis pathway."
07/01/2018 - "CHILD syndrome is caused by mutations in NSDHL gene, which involves in cholesterol synthesis. "
01/01/2018 - "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. "
03/01/2014 - "CHILD syndrome results from loss of function mutations in the NSDHL gene, which leads to inhibition of cholesterol synthesis and accumulation of toxic metabolic intermediates in affected tissues. "
03/01/2014 - "The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome."

01/01/2013 - "Notably, this strategy has been successfully validated for the treatment of the rare X-linked dominant condition, CHILD syndrome, in which topical applications of cholesterol and lovastatin together to affected skin resulted in marked improvement of the skin phenotype."
05/01/2012 - "We validated this therapeutic approach in two CHILD syndrome patients who failed to improve with topical cholesterol alone, but cleared with dual treatment with cholesterol plus lovastatin. "
01/01/2019 - "CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion."
01/01/2019 - "The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. "

04/01/2018 - "Pathogenesis-based therapy: Cutaneous abnormalities of CHILD syndrome successfully treated with topical simvastatin monotherapy."
01/01/2022 - "Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment."
09/01/2020 - "Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent."
03/07/2014 - "The therapy with simvastatin and cholesterol was highly effective and well-tolerated by the CHILD syndrome patients; only lesions in the body folds represented a therapeutic challenge. "
01/01/2020 - "An excellent response to topical therapy of four congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome patients with an increased concentration of simvastatin ointment."

01/01/2022 - "Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment."
01/01/2020 - "An excellent response to topical therapy of four congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome patients with an increased concentration of simvastatin ointment."
03/07/2014 - "Here we addressed the efficacy of an ointment containing cholesterol and simvastatin, an agent inhibiting endogenous cholesterol synthesis in a compassionate-use treatment of three patients with CHILD syndrome. "
07/01/2015 - "CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report."
03/07/2014 - "Our data provide initial evidence of the specificity of the therapeutic effect of the simvastatin-cholesterol ointment in CHILD syndrome in comparison to other types of MeDOC."

01/01/2019 - "The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. "

01/01/2015 - "CHILD syndrome: effective treatment of ichthyosiform naevus with oral and topical ketoconazole."

08/01/2000 - "It is of note that very recent investigations by the Marburg group have disclosed that the CHILD syndrome is likewise caused by a similar metabolic defect, namely a deficiency of a 3b-hydroxysteroid dehydrogenase (NSDHL). "
02/14/2000 - "Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome."
06/01/2005 - "One of these, congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, results from mutations in the X-linked gene NADH sterol dehydrogenase-like (NSDHL) encoding a sterol dehydrogenase. "
09/01/2001 - "The enzymatic steps impaired in these inborn errors of metabolism include mevolonate kinase (mevalonic aciduria as well as hyperimmunoglobulinemia D and periodic fever syndrome), squalene synthase (Ss-/- mouse), 3beta-hydroxysteroid Delta14-reductase (hydrops-ectopic calcification-moth-eaten skeletal dysplasia), 3beta-hydroxysteroid dehydrogenase (CHILD syndrome, bare patches mouse, and striated mouse), 3beta-hydroxysteroid Delta8,Delta7-isomerase (X-linked dominant chondrodysplasia punctata type 2, CHILD syndrome, and tattered mouse), 3beta-hydroxysteroid Delta24-reductase (desmosterolosis) and 3beta-hydroxysteroid Delta7-reductase (RSH/Smith-Lemli-Opitz syndrome and Dhcr7-/- mouse). "
01/01/2013 - "In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hyper-immunoglobulinemia D and periodic fever syndrome (HIDS), Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1), congenital hemidysplasia with icthyosiform nevus and limb defects (CHILD) syndrome, CK syndrome, sterol C4 methyl oxidase (SC4MOL) deficiency, X-linked dominant chondrodysplasia punctata 2(CDPX2)/ Conradi Hunermann syndrome, lathosterolosis and desmosterolosis, We also discuss current controversies and share thoughts on future directions in the field."

03/07/2014 - "The skin manifestations of the CHILD syndrome have been attributed to two major mechanisms: deficiency of cholesterol, probably influencing the proper corneocyte membrane formation, and toxic accumulation of aberrant steroid precursors. "
12/10/2016 - "CHILD syndrome is caused by mutations of nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein (NSDHL) gene mapped to chromosome Xq28. "
11/01/2015 - "CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation."
01/01/2008 - "CHILD syndrome is caused by mutations in the NSDHL (steroid dehydrogenase-like protein) gene at Xq28, which affects cholesterol biosynthesis. "
04/01/2002 - "Recently, we elucidated the underlying gene defect by demonstrating point mutations in NSDHL (NAD[P]H steroid dehydrogenase-like protein) at Xq28 in 6 patients with classic CHILD syndrome. "

06/01/2005 - "One of these, congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, results from mutations in the X-linked gene NADH sterol dehydrogenase-like (NSDHL) encoding a sterol dehydrogenase. "
11/01/2015 - "CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation."
04/01/2002 - "Recently, we elucidated the underlying gene defect by demonstrating point mutations in NSDHL (NAD[P]H steroid dehydrogenase-like protein) at Xq28 in 6 patients with classic CHILD syndrome. "
01/01/2023 - "Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase-like protein) gene. "
01/01/2020 - "This variant affects the NAD(P) H steroid dehydrogenase-like protein function via reduction in the number of active sites resulting in the CHILD syndrome phenotype and syndactyly."

12/10/2016 - "CHILD syndrome is caused by mutations of nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein (NSDHL) gene mapped to chromosome Xq28. "
03/01/2013 - "We report an unusual phenotype of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome most likely resulting from a novel X-chromosomal microdeletion encompassing the promoter region and exon 1 of the nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein gene, the neighboring gene CETN2, and more than 10 kb of noncoding deoxyribonucleic acid."
07/01/2019 - "The aim of this study was to perform a systematic analysis of the nicotinamide adenine dinucleotide phosphate (NAD[P])-dependent steroid dehydrogenase-like (NSDHL) gene in cases of oral verruciform xanthoma (VX) and to test for the presence of mutations associated with congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome. "

07/01/2018 - "To verify the diagnosis of CHILD syndrome and seek effective pathogenesis-based therapy with little side-effects. "
01/01/1995 - "The results are discussed in terms of the limited morbidity associated with ECMO and CV interventions and the possible role of a 'vulnerable child syndrome' in understanding the maternal-infant relationship following ECMO therapy."
07/01/2015 - "Skin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy."
03/01/2014 - "By understanding the underlying disease mechanism of CHILD syndrome, a pathogenesis-based therapy has been developed that successfully reverses the CHILD syndrome skin phenotype and has potential applications to the treatment of other ichthyoses. "
04/01/2018 - "Pathogenesis-based therapy: Cutaneous abnormalities of CHILD syndrome successfully treated with topical simvastatin monotherapy."

04/01/2010 - "These rates correspond to adjusted increases in total first-year visits (compared with group 1) of 0.36 visits in group 2 and 0.73 visits in group 3. Neonatal jaundice and inpatient phototherapy are associated with only small increases in first-year outpatient visit rates, consistent with mild or infrequent contribution to the vulnerable child syndrome in this population."
04/01/2010 - "The objective of this study was to determine whether either hyperbilirubinemia or inpatient phototherapy is associated with increased subsequent outpatient visit rates, a possible effect of the "vulnerable child syndrome." We compared 3 groups of otherwise well term and late-preterm infants who were born between 1995 and 2004 in Northern California Kaiser hospitals: group 1 never had a documented total serum bilirubin (TSB) level > or =12 mg/dL (n = 128 417); group 2 had a TSB level > or =17 and <23 mg/dL as outpatients between 48 hours and 7 days of age and did not receive inpatient phototherapy (n = 6777); and group 3 met criteria for group 2 but did receive inpatient phototherapy (n = 1765). "

07/01/1988 - "This case report presents the resuscitation of a 6 1/2-month-old child with elevated intracranial pressure, seizure activity, and a presumptive diagnosis of shaken child syndrome. "

12/01/2009 - "(4) The ultrasonographical and spiral CT scans provide effective reference for the diagnosis of Budd-child syndrome, hepatectomy, especially liver hanging maneuver."

03/01/1984 - "In order to investigate whether catecholamines play a role in the hyperkinetic child syndrome, we determined noradrenaline and adrenaline plasma levels before and after treatment with methylphenidate. "