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. 2022 Jul;87(1):162-164.
doi: 10.1016/j.jaad.2021.06.877. Epub 2021 Jul 6.

Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies

Olivia M T Davies  1 , Maria C Garzon  2 , Ilona J Frieden  3 , Catherine E Cottrell  4 , Karen W Gripp  5 , Russell P Saneto  6 , Tor Shwayder  7 , Ghayda M Mirzaa  8 , Beth A Drolet  9
Affiliations

Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies

Olivia M T Davies et al. J Am Acad Dermatol. 2022 Jul.
No abstract available

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Conflict of interest statement

Conflicts of interest Dr Garzon is an investigator for NCT02913612 Pediatric Trials Network-NIH Efficacy, Safety and Pharmacokinetics of Topical Timolol in Infants with Infantile Hemangioma (IH) (TIM01). Dr Frieden is a member of the Venthera Clinical Advisory Board, Pfizer (Data Safety Monitoring Board), and Novartis (consultant) and an investigator for NCT02913612 Pediatric Trials Network-NIH Efficacy, Safety and Pharmacokinetics of Topical Timolol in Infants with Infantile Hemangioma (IH) (TIM01). Dr Saneto is an investigator for 5R01 NS092772-02. Dr Drolet reports an investigator-initiated trial funded by Pierre Fabre, Venthera consultant and Clinical Advisory Board member, she is the founder of Peds Derm Development, LLC, and is an investigator for NCT02913612 Pediatric Trials Network-NIH Efficacy, Safety and Pharmacokinetics of Topical Timolol in Infants with Infantile Hemangioma (IH) (TIM01). Drs Cottrell, Gripp, Shwayder, Mirzaa, and Davies have no conflicts of interest to declare.

Figures

Figure 1:
Figure 1:. Representative Patient Phenotype
Patient #1: Photo taken at 2 months, male with deep red purple, coarsely reticulate and linear vascular anomaly with underlying skin atrophy. Proposed diagnosis of AKT3-associated capillary malformation.
See this image and copyright information in PMC

References

    1. Jansen LA, Mirzaa GM, Ishak GE et al. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain 2015; 138: 1613–28. - PMC - PubMed
    1. Alcantara D, Timms AE, Gripp K et al. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain 2017; 140: 2610–22. - PMC - PubMed
    1. Wright DR, Frieden IJ, Orlow SJ et al. The Misnomer “Macrocephaly—Cutis Marmorata Telangiectatica Congenita Syndrome”: Report of 12 New Cases and Support for Revising the Name to Macrocephaly—Capillary Malformations. JAMA Dermatol 2009; 145: 287–93. - PubMed
    1. Rivière JB, Mirzaa GM, O'Roak BJ et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012; 44: 934–40. - PMC - PubMed
    1. McNulty SN, Evenson MJ, Corliss MM et al. Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort. Am J Hum Genet 2019; 105: 734–46. - PMC - PubMed

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