CHILD syndrome: A modified pathogenesis‐targeted therapeutic approach. Issue 3 (2nd February 2018)

• Record Type: Journal Article
• Authors: Bergqvist, Christina; Abdallah, Bilal; Hasbani, Divina‐Justina; Abbas, Ossama; Kibbi, Abdul Ghani; Hamie, Lamiaa; Kurban, Mazen; Rubeiz, Nelly
• Is Part Of: American journal of medical genetics. Volume 176:Issue 3(2018)
• Page Start: 733
• Page End: 738
• Publication Date: 2018-02-02
• Subjects: cholesterol -- glycolic acid -- NSDHL -- statin; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38619
• Languages: English
• ISSNs: 1552-4825

Abstract

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.