Pathogenesis-based therapy: Cutaneous abnormalities of CHILD syndrome successfully treated with topical simvastatin monotherapy
| Autor: | Khalid Mohammed Al Attas, Mohammed A. Buraik, Hasan Yehia Hannani, Sultan M. Bajawi, Sultan Aqeel Jafarri |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Statin medicine.drug_class ichthyiosis Dermatology Article Vulva Pathogenesis 030207 dermatology & venereal diseases 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Erythematous plaque lcsh:Dermatology medicine Nevus simvastatin business.industry Cholesterol CHILD congenital hemidysplasia ichthyosiform nevus and limb defects pathogenesis CHILD syndrome congenital lcsh:RL1-803 medicine.disease 030104 developmental biology medicine.anatomical_structure chemistry Simvastatin business medicine.drug |
| Zdroj: | JAAD Case Reports JAAD Case Reports, Vol 4, Iss 3, Pp 232-234 (2018) |
| ISSN: | 2352-5126 |
| Popis: | The first description of this condition in 1948 was followed by 17 case reports before Happle delineated the key features and proposed the acronym CHILD syndrome in 1980, which stands for congenital hemidysplasia, ichthyosiform nevus, and limb defects. It is a rare X-linked dominant disorder that is generally lethal in affected male embryos.1 CHILD syndrome is caused by a defect in cholesterol synthesis as a result of mutation in the NSDHL (NAD[P] sterol dehydrogenase–like) gene. This mutation prevents the postlanosterol generation of cholesterol, potentially leading to pathway-product deficiency in addition to metabolite accumulation.2, 3 The characteristic skin changes are unilateral, waxy, scaling, ichthyosiform erythematous plaques with a sharp midline demarcation present at birth or shortly thereafter. The most frequently affected areas are the vulva, axillae, and gluteal folds.4, 5 Treatment until recently has been purely symptomatic using emollients and retinoids to reduce scaling. New therapeutic approaches recently have been developed based on the pathogenesis.6, 7 These studies suggest that topical application of cholesterol in combination with a cholesterol synthesis–inhibiting agent (statin) has the potential to reverse skin symptoms in CHILD syndrome by providing functional cholesterol while inhibiting the accumulation of toxic metabolites.3, 6, 7 We describe a rare case of CHILD syndrome presenting with a rapid onset of skin abnormalities after birth, which was treated successfully with topical 2% simvastatin ointment monotherapy. |
| Databáze: | OpenAIRE |
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