ArticleAmerican journal of medical genetics. Part A2014
Skin findings in Williams syndrome.
Article in American journal of medical genetics. Part A, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 50 citations in OpenAlex.
- Dermatologic manifestations in an adult with Williams syndrome.JAAD case reports · 2026Article
- Williams Syndrome Associated With Facial Port-Wine Stain and Phacomatosis Pigmentovascularis: A Case Report.Clinical case reports · 2025Article
- Phenotypic findings associated with variation in elastin.HGG advances · 2025Article
- Role of elastic fiber degradation in disease pathogenesis.Biochimica et biophysica acta. Molecular basis of disease · 2023Review
- Effect of hyperbaric oxygen treatment on skin elasticity in irradiated patients.Diving and hyperbaric medicine · 2022Article
- Emerging mechanisms of elastin transcriptional regulation.American journal of physiology. Cell physiology · 2022Review
- Airflow Obstruction in Adults with Williams Syndrome and Mice with Elastin Insufficiency.Diagnostics (Basel, Switzerland) · 2022Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells.Scientific data · 2019Article
- Williams Syndrome, Human Self-Domestication, and Language Evolution.Frontiers in psychology · 2019Article
- Elastin-driven genetic diseases.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Preliminary study on the development of an antistretch marks water-in-oil cream: ultrasound assessment, texture analysis, and sensory analysis.Clinical, cosmetic and investigational dermatology · 2016Article
- Biomechanical properties of the skin in cutis laxa.The Journal of investigative dermatology · 2014Article
- Elastin Regulates Vascular Smooth Muscle Cell Behavior During Development and in Diseases.Pediatrics international : official journal of the Japan Pediatric SocietyReview
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Previous examination in a small number of individuals with Williams syndrome (also referred to as Williams-Beuren syndrome) has shown subtly softer skin and reduced deposition of elastin, an elastic matrix protein important in tissue recoil. No quantitative information about skin elasticity in individuals with Williams syndrome is available; nor has there been a complete report of dermatologic findings in this population. To fill this knowledge gap, 94 patients with Williams syndrome aged 7-50 years were recruited as part of the skin and vascular elasticity (WS-SAVE) study. They underwent either a clinical dermatologic assessment by trained dermatologists (2010 WSA family meeting) or measurement of biomechanical properties of the skin with the DermaLab™ suction cup (2012 WSA family meeting). Clinical assessment confirmed that soft skin is common in this population (83%), as is premature graying of the hair (80% of those 20 years or older), while wrinkles (92%), and abnormal scarring (33%) were detected in larger than expected proportions. Biomechanical studies detected statistically significant differences in dP (the pressure required to lift the skin), dT (the time required to raise the skin through a prescribed gradient), VE (viscoelasticity), and E (Young's modulus) relative to matched controls. The RT (retraction time) also trended longer but was not significant. The biomechanical differences noted in these patients did not correlate with the presence of vascular defects also attributable to elastin insufficiency (vascular stiffness, hypertension, and arterial stenosis) suggesting the presence of tissue specific modifiers that modulate the impact of elastin insufficiency in each tissue.
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Registered trials
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.