Congenital ichthyoses are a heterogeneous group of genetic skin disorders characterized by defects in the critical barrier function of the skin. These life-long conditions present a significant therapeutic challenge in dermatology. One important example is Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects, or CHILD syndrome. This is a rare congenital ichthyosis caused by mutations in cholesterol biosynthesis. With limited success, the cutaneous features of this condition have historically been managed symptomatically with emollients, topical keratolytics, and topical steroids. However, over the last decade, topical therapy directed at the pathogenesis of this condition has emerged as an effective treatment. Herein, we report a case of successful treatment of the cutaneous features of CHILD syndrome with compounded simvastatin and cholesterol gel and highlight the role of the compounding pharmacist in the care of patients with congenital ichthyosis.
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Br J Dermatol
December 2024
Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
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Ophthalmology, Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, Patna, IND.
Collodion baby is a rare congenital condition marked by a parchment-like membrane covering the body, often leading to complications such as bilateral ectropion. This condition poses risks of exposure keratopathy and other ocular issues. We present a case series of five infants with congenital bilateral ectropion associated with collodion babies, all born prematurely.
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Department of Dermatology and Venereology, Medical Center-University of Freiburg, Freiburg, Germany.
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Department of Pediatric Dermatology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
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View Article and Find Full Text PDFIndian J Dermatol Venereol Leprol
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Division of Disease Biology, CSIR-Institute of Genomics & Integrative Biology, New Delhi, India.
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