The skin, eyes and face as a window to hidden multisystemic diseases: integration of clinical phenotyping, 3D imaging, genomics and reconstructive medicine
DOI:
https://doi.org/10.70577/sbkz3907Keywords:
clinical phenotyping, 3D facial imaging, genomics, multisystemic diseases, cutaneous biomarkers, ocular manifestations, reconstructive medicineAbstract
Introduction: Numerous multisystemic diseases of genetic, autoimmune, or metabolic etiology present cutaneous, ocular, and craniofacial manifestations that may precede internal organ involvement, constituting a diagnostic "window" of high clinical value. The skin and eyes reflect underlying systemic pathological processes (Wanat et al., 2016). The integration of clinical phenotyping with 3D facial imaging, facial trait genomics, and reconstructive medicine offers a synergistic framework for early detection (Hallgrimsson et al., 2026). Objective: To synthesize evidence on the use of skin, eyes, and face as biomarkers of hidden multisystemic diseases, and to evaluate the potential of integrating clinical phenotyping, 3D imaging, genomics, and reconstructive medicine for early diagnosis. Methodology: Systematic review following PRISMA 2020 (Page et al., 2021). Search in PubMed, LILACS, SciELO and Cochrane for studies published between 2000 and 2026 on cutaneous and ocular manifestations of multisystemic diseases, 3D facial imaging, GWAS of facial traits, and reconstructive surgery. Results: Eight studies were identified. 3D facial imaging detects inherited connective tissue diseases such as Marfan and Loeys-Dietz syndromes, which remain undiagnosed for years (Hallgrimsson et al., 2026). Artificial intelligence (GestaltMatcher) classifies dysmorphic traits with high accuracy (Krawitz & Ruder, 2025). GWAS of facial traits have identified genetic loci associated with facial shape (Xiong et al., 2025). Skin and eyes can be initial sites of sarcoidosis, Behçet disease, and Vogt-Koyanagi-Harada syndrome (Wanat et al., 2016). Reconstructive medicine is crucial in rehabilitating cutaneous and ocular sequelae (JAMA Ophthalmology, 1999). Conclusion: The convergence of clinical phenotyping, 3D imaging, genomics, and reconstructive medicine represents an integrative paradigm for early detection of hidden multisystemic diseases. The face, skin, and eyes constitute accessible and non-invasive biomarkers that can reduce the diagnostic odyssey and improve clinical outcomes.
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Copyright (c) 2026 Malena Paulina Camacho Aldaz, Melanie Sofía Ramírez Egas, Karla Gissel Ipiales Iles, Daniela Monserrath Moreano Carrascal, Martha Elizabeth Sarmiento Crespo (Autor/a)
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