Acrochordons on the neck; a remarkable clinical feature of tuberous sclerosis showing different patterns

Baykal, Can

doi:10.1111/jdv.14636

Cited by 3 publications

(2 citation statements)

References 4 publications

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“…In rare cases, dermatologic features that are considered distinctive for BHDS may occur in patients with TSC, and vice versa. FFs 5 and multiple acrochordons 6 are classic for patients with BHDS but have been reported in patients with TSC. Likewise, periungual fibromas 7 and intraoral papules 8 are classic for TSC but have been observed in patients with BHDS.…”

Section: Discussionmentioning

confidence: 99%

Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex

et al. 2019

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Section: Discussionmentioning

confidence: 99%

Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex

et al. 2019

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“…13,14 A remarkable proportion of individuals within this cohort had numerous acrochordons, a finding that is classically associated with insulin resistance and also observed in other genodermatoses that involve activation of the PI3K-Akt-mTOR pathway. Cutaneous tags are present in up to 28% of individuals with tuberous sclerosis complex 15 and are also a feature of Birt-Hogg-Dubé syndrome. 16 This may be a consequence of the regulation of the PI3K-Akt-mTOR signaling pathway by the insulin signaling pathway.…”

Section: Discussionmentioning

confidence: 99%

Dermatologic findings in individuals with genetically confirmed Proteus syndrome

Pithadia

Cartron

Biesecker

et al. 2021

Pediatric Dermatology

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Background/Objective: 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. Methods: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.Results: 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 observed features include nail changes (n = 28, 55%), hyperpigmented macules (n = 27, 53%), patchy dermal hypoplasia (n = 18, 35%), gingival/oral mucosal overgrowth (n = 17, 33%), hypopigmented macules (n = 16, 31%), dental enamel changes (n = 9, 18%), acrochordons (n = 6, 12%), and lingual overgrowth (n = 4, 8%). Conclusions:The range of mucocutaneous features occurring in Proteus syndrome is broader than previously considered. These observations may assist in earlier diagnosis and management and provide novel insights regarding the pathogenesis of the condition.

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More about molluscum pendulum/acrochordons in tuberous sclerosis complex

Lipsker

2017

Acad Dermatol Venereol

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Acrochordons on the neck; a remarkable clinical feature of tuberous sclerosis showing different patterns

Cited by 3 publications

References 4 publications

Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex

Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex

Dermatologic findings in individuals with genetically confirmed Proteus syndrome

More about molluscum pendulum/acrochordons in tuberous sclerosis complex

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