2021
DOI: 10.1016/j.jaad.2020.01.078
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Hypertrichotic patches as a mosaic manifestation of Proteus syndrome

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Cited by 5 publications
(6 citation statements)
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“…The accompanying hypertrichosis within some epidermal nevi and our recent finding of hypertrichotic patches in Proteus syndrome may represent the effects of AKT1 activation on hair follicles. 3 As anticipated, overgrowth of mucocutaneous tissues was common in this cohort, including overgrowth of epidermal (in epidermal nevi), dermal (in CTN), adipose (in lipomas), and vascular (in capillary and venous malformations) tissues. [7][8][9] We also observed hyperpigmented macules, and it remains to be determined whether these may represent increased numbers of melanocytes or increased production of pigment in Proteus syndrome.…”
Section: Discussionmentioning
confidence: 61%
See 1 more Smart Citation
“…The accompanying hypertrichosis within some epidermal nevi and our recent finding of hypertrichotic patches in Proteus syndrome may represent the effects of AKT1 activation on hair follicles. 3 As anticipated, overgrowth of mucocutaneous tissues was common in this cohort, including overgrowth of epidermal (in epidermal nevi), dermal (in CTN), adipose (in lipomas), and vascular (in capillary and venous malformations) tissues. [7][8][9] We also observed hyperpigmented macules, and it remains to be determined whether these may represent increased numbers of melanocytes or increased production of pigment in Proteus syndrome.…”
Section: Discussionmentioning
confidence: 61%
“…2 Some cutaneous findings, most notably epidermal nevus and hypertrichotic patches, may follow the lines of Blaschko, indicating mosaicism. 3 In recent years, molecular testing for an AKT1 activating variant has been increasingly used to confirm the diagnosis, 4 as other overgrowth disorders, such as PIK3CA-related segmental overgrowth and Klippel-Trénaunay syndrome, may present with similar constellations of clinical findings.…”
Section: Introductionmentioning
confidence: 99%
“…Hypertrichosis is also an androgen-mediated process and has been shown to follow the lines of Blaschko in Proteus syndrome. 4 The individual did report hypertrichosis and acne on the left side of his face relative to the right, but not on his back.…”
Section: Discussionmentioning
confidence: 95%
“…2,3 We recently documented individuals with Proteus syndrome who had hypertrichosis following the lines of Blaschko. 4 Herein, we report another mosaic skin manifestation of Proteus syndrome that involves the pilosebaceous unit.…”
Section: Introductionmentioning
confidence: 91%
“…Клиническими его проявлениями могут быть липомы, разрастания конечностей, дерматологические поражения и злокачественные новообразования [9][10][11]. Диагностика и лечение различных подтипов PHTS затруднены в связи с редкой встречаемостью заболевания…”
Section: Treatment Of a Patient With Local Gigantism Of The Upper Lim...unclassified