Phakomatosis pigmentovascularis type II b with bilateral hearing impairment

Onsun, Nahide; Inandirici, A; Kural, Yasemin Balsever; Teker, C; Atilganoğlu, Ulviye

doi:10.1111/j.1468-3083.2006.01880.x

Cited by 4 publications

(1 citation statement)

References 6 publications

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“…To put forward best practices for management, we identified the articles in our literature review that included recommendations for management of phacomatosis cesioflammea and cesiomarmorata. Twenty‐two articles were identified with recommendations (Ajith, Narang, & Kanwar, ; Byrom, Surjana, Yoong, & Zappala, ; Carvalho, Batista, Bornemann, Acioly, & Tatagiba, ; Castori et al, ; Chiu, Chen, Wu, Ke, & Cheng, ; Finklea, Mohr, Warthan, Darrow, & Williams, ; Fischer & Trautinger, ; Gilliam, Ragge, Perez, & Bolognia, ; Goyal & Varshney, ; Hall, Cadle, Morrill‐Cornelius, & Bay, ; Henry, Hodapp, Hess, Blieden, & Berrocal, ; Jun, Kim, Cho, Lee, & Kim, ; Nanda et al, ; Onsun, Inandirici, Kural, Teker, & Atilganoglu, ; Shields et al, , ; Smith, Moore, & Stetson, ; Toelle, Weibel, Schiegl, & Boltshauser, ; Wobser, Goebeler, & Hamm, ; Yang et al, ; Zhou, et al, ). Recommendations varied substantially between reports and no specific recommendation was included in the majority of the articles reviewed.…”

Section: Resultsmentioning

confidence: 96%

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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