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Am J Med Genet A. 2018 Mar;176(3):733-738. doi: 10.1002/ajmg.a.38619. Epub 2018 Feb 2.

CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.

Author information

1
Department of Dermatology, American University of Beirut, Beirut, Lebanon.
2
Private Practice, Chehim, Lebanon.
3
American University of Beirut, Beirut, Lebanon.
4
Faculty of Medicine, Department of Anatomy, Cell Biology and Physiological Sciences, American University of Beirut, Beirut, Lebanon.
5
Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
6
Department of Dermatology, Columbia University, New York, New York.

Abstract

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.

KEYWORDS:

NSDHL; cholesterol; glycolic acid; statin

PMID:
29392821
DOI:
10.1002/ajmg.a.38619
[Indexed for MEDLINE]

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