ArticleThe Journal of investigative dermatology2011
Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism.
Article in The Journal of investigative dermatology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
40 citing papers in PubMed, 121 citations in OpenAlex.
- Modeling Inherited Disorders of Post-Lanosterol Cholesterol Biosynthesis: From Animal Models to Patient-Derived Stem Cells.International journal of molecular sciences · 2026Review
- Long-term disease control of disseminated superficial actinic porokeratosis (DSAP) with simvastatin 2%/ cholesterol 2% cream.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2026Article
- Dysregulated cholesterol metabolism in genodermatoses: implications for systemic disease and therapeutic strategies.Frontiers in cell and developmental biology · 2026Review
- Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Case Report: Rapid and Effective Treatment of Porokeratosis With Fractional COJournal of cosmetic dermatology · 2025Article
- Improvement of Skin Lesions in an Adult with CHILD Syndrome Treated with 2% Ketoconazole Cream.Acta dermato-venereologica · 2024Article
- Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.American journal of human genetics · 2024Article
- Porokeratoses-A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants.Metabolites · 2023Review
- Congenital Ichthyosis: A Practical Clinical Guide on Current Treatments and Future Perspectives.Clinical, cosmetic and investigational dermatology · 2023Review
- Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy.American journal of clinical dermatology · 2022Review
- New developments in the molecular treatment of ichthyosis: review of the literature.Orphanet journal of rare diseases · 2022Review
- A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.Molecular genetics & genomic medicine · 2022Article
- Advancing novel therapies for ichthyoses.The British journal of dermatology · 2021Article
- Challenges in Treating Genodermatoses: New Therapies at the Horizon.Frontiers in pharmacology · 2021Review
- Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis.JAAD case reports · 2020Article
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.American journal of human genetics · 2020Article
- Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.PLoS genetics · 2020Article
- Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.Journal of the American Academy of Dermatology · 2020Article
- Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis.The Journal of investigative dermatology · 2019Article
- CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion.Anais brasileiros de dermatologia · 2019Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
Abstract
Identification of the underlying genetic, cellular, and biochemical basis of lipid metabolic disorders provides an opportunity to deploy corrective, mechanism-targeted, topical therapy. We assessed this therapeutic approach in two patients with Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome, an X-linked dominant disorder of distal cholesterol metabolism. On the basis of the putative pathogenic role of both pathway-product deficiency of cholesterol and accumulation of toxic metabolic intermediates, we assessed the efficacy of combined therapy with lovastatin and cholesterol. We also evaluated the basis for the poorly understood, unique lateralization of the cutaneous and bone malformations of CHILD syndrome by analyzing gene activation in abnormal and unaffected skin. Ultrastructural analysis of affected skin showed evidence of both cholesterol depletion and toxic metabolic accumulation. Topical treatment with lovastatin/cholesterol (but not cholesterol alone) virtually cleared skin lesions by 3 months, accompanied by histological and ultrastructural normalization of epidermal structure and lipid secretion. The unusual lateralization of abnormalities in CHILD syndrome reflects selective clearance of keratinocytes and fibroblasts that express the mutant allele from the unaffected side. These findings validate pathogenesis-based therapy that provides the deficient end product and prevents accumulation of toxic metabolites, an approach of potential utility for other syndromic lipid metabolic disorders.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.