Unusual case of phakomatosis pigmentovascularis in a Japanese female infant associated with three phakomatoses: Port‐wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita

Shimizu, Nami; Nakagawa, Kōichi; Taguchi, Mari; Okabayashi, Aya; Kishida, Masao; Kinoshita, Rie; Imanishi, Hiroyasu; Fukai, Kazuyoshi; Tsuruta, Daisuke

doi:10.1111/1346-8138.13000

Cited by 4 publications

(2 citation statements)

References 5 publications

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“…However, the classification can be challenging in certain cases that do not fulfill the criteria for any of the groups described by Happle or when there is overlapping between the different types. The combination of the three conditions, PWS, CMTC, and dermal melanocytosis, has been reported in six cases (Table ). Therefore, and as already claimed by some authors, it would be more judicious, through the accumulation of the cases, to consider these observations of PPV as a distinct entity with a specific name such as “phacomatosis cesio‐flammeo‐marmorata.”…”

Section: Discussionmentioning

confidence: 99%

New case of phacomatosis cesio‐flammeo‐marmorata: the time is right to review the classification for phacomatosis pigmentovascularis

Chehad¹

2019

Int J Dermatology

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Section: Discussionmentioning

confidence: 99%

New case of phacomatosis cesio‐flammeo‐marmorata: the time is right to review the classification for phacomatosis pigmentovascularis

Chehad¹

2019

Int J Dermatology

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“…For heuristic purposes, our patient's disorder should be listed, for the time being, within the group of unclassifiable PPV, together with some previous reports on phacomatosis cesioflammea overlapping with CMTC-like lesions[81011] and on other unusual phenotypes. [2] From a dermatological point of view, the present phenotype may represent a mixture of phacomatosis cesioflammea and phacomatosis cesiomarmorata.…”

Section: Discussionmentioning

confidence: 99%

Phacomatosis cesioflammea with cutis marmorata-like lesions and unusual extracutaneous abnormalities: Is it a distinct disorder?

Verma¹,

Desai

Shah³

et al. 2017

Indian J Dermatol

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A 2-month-old boy was presented with widespread lateralized blue macules (nevus cesius), an extensive nevus flammeus, and large patches of cutis marmorata telangiectatica congenita. Moreover, he had macrocephaly, a coarse facial appearance with depressed nasal bridge, retinal abnormalities, septal defects of the heart, and obliteration of the left brachiocephalic vein and major veins of the left arm with pronounced collateralization. The multisystem disorder of this boy cannot be categorized within the present classification of distinct types of phacomatosis pigmentovascularis. Although some similar complex cases have previously been reported, it seems too early to give them a specific name. Rather, the present case should be included, so far, into the group of unclassifiable types of phacomatosis pigmentovascularis.

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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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Unusual case of phakomatosis pigmentovascularis in a Japanese female infant associated with three phakomatoses: Port‐wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita

Cited by 4 publications

References 5 publications

New case of phacomatosis cesio‐flammeo‐marmorata: the time is right to review the classification for phacomatosis pigmentovascularis

New case of phacomatosis cesio‐flammeo‐marmorata: the time is right to review the classification for phacomatosis pigmentovascularis

Phacomatosis cesioflammea with cutis marmorata-like lesions and unusual extracutaneous abnormalities: Is it a distinct disorder?

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

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