Generalized birthmarks with glaucoma and lower extremity overgrowth.

Elaine Dong,Denise W Metry

Pediatric dermatology(2023)

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Pediatric DermatologyVolume 40, Issue 2 p. 373-375 PHOTOQUIZ Generalized birthmarks with glaucoma and lower extremity overgrowth Elaine Dong MBA, Corresponding Author Elaine Dong MBA [email protected] [email protected] orcid.org/0000-0001-7769-6016 Department of Dermatology at Baylor College of Medicine, Houston, Texas, USA Correspondence Elaine Dong, Department of Dermatology at Baylor College of Medicine, Houston, Texas, USA. Email: [email protected] or [email protected]Search for more papers by this authorDenise W. Metry MD, Denise W. Metry MD orcid.org/0000-0003-1991-1683 Departments of Dermatology and Pediatrics, Baylor College of Medicine, Houston, Texas, USA Departments of Dermatology and Pediatrics, Texas Children's Hospital, Houston, Texas, USASearch for more papers by this author Elaine Dong MBA, Corresponding Author Elaine Dong MBA [email protected] [email protected] orcid.org/0000-0001-7769-6016 Department of Dermatology at Baylor College of Medicine, Houston, Texas, USA Correspondence Elaine Dong, Department of Dermatology at Baylor College of Medicine, Houston, Texas, USA. Email: [email protected] or [email protected]Search for more papers by this authorDenise W. Metry MD, Denise W. Metry MD orcid.org/0000-0003-1991-1683 Departments of Dermatology and Pediatrics, Baylor College of Medicine, Houston, Texas, USA Departments of Dermatology and Pediatrics, Texas Children's Hospital, Houston, Texas, USASearch for more papers by this author First published: 29 March 2023 https://doi.org/10.1111/pde.15173Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. REFERENCES 1Dutta A, Ghosh SK, Bandyopadhyay D, Bhanja DB, Biswas SK. Phakomatosis Pigmentovascularis: a clinical profile of 11 Indian patients. Indian J Dermatol. 2019; 64(3): 217- 223. 2Krema H, Simpson R, McGowan H. Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. Can J Ophthalmol. 2013; 48: e41- e42. 3Chhajed M, Pandit S, Dhawan N, Jain A. Klippel-Trenaunay and Sturge-Weber overlap syndrome with phakomatosis pigmentovascularis. J Pediatr Neurosci. 2010; 5:138e40. 4Thomas AC, Zeng Z, Riviere JB, et al. Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. J Inv Dermatol. 2016; 136: 770- 778. 5de Wet J, Jordaan HF, Visser WI, Happle R. Phacomatosis Pigmentovascularis is not a twin-spot phenomenon. J Glaucoma. 2020; 29(2):e11. doi:10.1097/IJG.0000000000001418 6Lee MS, Liang MG, Mulliken JB. Diffuse capillary malformation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy. J Am Acad Dermatol. 2013; 69(4): 589- 594. 7Rozas-Munoz E, Frieden IJ, Roe E, Puig L, Baselga E. Vascular stains: proposal for a clinical classification to improve diagnosis and management. Ped Dermatol. 2016; 33(6): 570- 584. 8Mirzaa GM, Riviere J-B, Dobyns WB. Megalencephaly syndromes and activating mutations in the Pi3K-AKT pathway: MPPH and MCAP. Am J Med Genet Part C Semin Med Genet. 2013; 163C: 1220- 1130. 9Dompmartin A, van der Vleutin CJM, Dekeuleneer V, et al. GNA11-mutated Sturge-weber syndrome has distinct neurological and dermatological features. Eur J Neurol. 2022; 29(10): 3061- 3070. 10Jordan M, Carmignac V, Sorlin A, et al. Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical Spectrum with genotype-phenotype correlation. J Invest Dermatol. 2020; 140(5): 1106- 1110.e2. doi:10.1016/j.jid.2019.08.455 Volume40, Issue2March/April 2023Pages 373-375 ReferencesRelatedInformation
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genetic diseases/mechanisms,genodermatoses,pigmentary disorders,vascular malformation
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