Phacomatosis pigmentovascularis of cesioflammea type

Villarreal, Delky Johanna Villarreal; Leal, Fabiano

doi:10.1590/abd1806-4841.20164516

Cited by 5 publications

(1 citation statement)

References 9 publications

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“…This is thought to result from dysplasia of the vasomotor nerve cells and melanin cells, both of which are derived from the embryonic neural crest 3. Another theory is a genetic phenomenon characterised by loss of heterozygosity, called twin spotting, that is a specific mechanism of somatic mosaicism 4. Twin spots consist of paired patches of mutant tissue that is genetically different from each other and from the heterozygous background tissue 5.…”

Section: Discussionmentioning

confidence: 99%

Port-wine stain as a clue for two rare coexisting entities

Almeida¹,

Caldas

Duarte

et al. 2018

BMJ Case Reports

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Phakomatosis pigmentovascularis (PPV) is an uncommon dermatosis characterised by the presence of both pigmentary and vascular abnormalities. Its pathogenesis is not elucidated, and the prognosis is mainly determined by the presence of extracutaneous manifestations, such as Klippel-Trenaunay syndrome (KTS), that is defined by the triad of a port-wine stain (PWS), anomalous veins and progressive overgrowth of the affected extremity. Herein, we report a case of an adult patient, who presented with a large PWS, nevus of Ota, ocular melanosis, and limb hypertrophy and varicosities. These findings represented a rare association of PPV type IIb and KTS.

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Section: Discussionmentioning

confidence: 99%

Port-wine stain as a clue for two rare coexisting entities

Almeida¹,

Caldas

Duarte

et al. 2018

BMJ Case Reports

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Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

Kumar

Zastrow

Kravets

et al. 2019

American J of Med Genetics Pt A

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Phacomatosis pigmentovascularis (PPV) comprises a family of rare conditions that feature vascular abnormalities and melanocytic lesions that can be solely cutaneous or multisystem in nature.Recently published work has demonstrated that both vascular and melanocytic abnormalities in PPV of the cesioflammea and cesiomarmorata subtypes can result from identical somatic mosaic activating mutations in the genes GNAQ and GNA11. Here, we present three new cases of PPV with features of the cesioflammea and/or cesiomarmorata subtypes and mosaic mutations in GNAQ or GNA11. To better understand the risk of potentially occult complications faced by such patients we additionally reviewed 176 cases published in the literature. We report the frequency of clinical findings, their patterns of co-occurrence as well as published recommendations for surveillance after diagnosis. Features assessed include: capillary malformation; dermal and ocular melanocytosis; glaucoma; limb asymmetry; venous malformations; and central nervous system (CNS) anomalies, such as ventriculomegaly and calcifications. We found that ocular findings are common in patients with phacomatosis cesioflammea and cesiomarmorata. Facial vascular

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