Dermatologic findings in individuals with genetically confirmed Proteus syndrome.

Pediatric Dermatology
Deeti J PithadiaThomas N Darling

Abstract

Proteus syndrome, caused by a mosaic activating AKT1 variant, typically presents in toddlers with progressive, asymmetric overgrowth of the skin and bones. We aimed to define the spectrum of dermatologic disease in individuals with genetically confirmed Proteus syndrome. We conducted a retrospective review of records from dermatologic examinations of individuals evaluated at the NIH with a molecular diagnosis of Proteus syndrome. The types, prevalence, and localization of dermatologic findings were assessed. Fifty-one individuals (29 males, 22 females, mean age: 9 years) with clinical features of Proteus syndrome had the mosaic c.49G>A, p.Glu17Lys AKT1 variant. Fifty (98%) had at least one cutaneous feature constituting current clinical diagnostic criteria, including vascular malformations in 42 (82%), epidermal nevus in 41 (80%), volar cerebriform connective tissue nevi in 34 (67%), and adipose dysregulation in 30 (59%). Forty-nine (96%) had at least one dermatologic finding not included within the diagnostic criteria, including confluent volar skin-colored to hypopigmented papules or nodules (n = 33, 65%), papules or nodules on the digits or face (n = 27, 53%), and nonlinear epidermal nevi (n = 15, 29%). Other frequently obse...Continue Reading

References

Apr 23, 1999·American Journal of Medical Genetics·R Happle
Aug 18, 2004·Archives of Dermatology·Diem NguyenThomas N Darling
Jul 29, 2011·The New England Journal of Medicine·Marjorie J LindhurstLeslie G Biesecker
Sep 3, 2013·Clinical Genetics·M Michael Cohen
Nov 29, 2016·Dermatologic Clinics·Neera NathanThomas N Darling
Oct 13, 2017·Journal of the European Academy of Dermatology and Venereology : JEADV·C Baykal
Oct 19, 2017·Journal of the American Academy of Dermatology·Neera R NathanThomas N Darling
Feb 26, 2019·American Journal of Human Genetics·Kim M Keppler-NoreuilLeslie G Biesecker
Feb 10, 2020·Journal of the American Academy of Dermatology·Deeti J PithadiaThomas N Darling

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