Phakomatosis pigmentovascularis type <scp>II</scp>b: A case with Klippel–Trenáunay syndrome and extensive dermal melanocytosis as nevus of Ota, nevus of Ito and ectopic Mongolian spots

Namiki, Takeshi; Takahashi, Michio; Nojima, Kohei; Ueno, Makiko; Hanafusa, Takaaki; Tokoro, Shown; Yokozeki, Hiroo

doi:10.1111/1346-8138.13505

Cited by 9 publications

(6 citation statements)

References 5 publications

(4 reference statements)

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“…c) and extremities and designated as extensive (generalized) MS. Several cases of extensive MS appearing on scalp, face (mandibular area, temporal area) in addition to lumbosacral area have been reported. Lesions located solely on atypical sites such as the extremities, head and neck region, instead of classical locations, are called as ectopic MS …”

Section: Classical Variants Of Dermal Melanocytosesmentioning

confidence: 99%

“…4c) and extremities 52 and designated as extensive (generalized) MS. Several cases of extensive MS appearing on scalp, 62 face (mandibular area, 63 temporal area 64 ) in addition to lumbosacral area have been reported. Lesions located solely on atypical sites such as the extremities, head and neck region, instead of classical locations, are called as ectopic MS. 60,65 Generally, MS is accepted as an isolated lesion without any associated systemic disorder. 53 Nevertheless, it might also be seen with spinal dysraphism, cleft lip/palate and in the context of phacomatosis pigmentovascularis, accompanying vascular malformations and several forms of epidermal and other dermal melanocytic proliferations.…”

Section: Mongolian Spotmentioning

confidence: 99%

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The spectrum of benign dermal dendritic melanocytic proliferations

Baykal

Yılmaz

Sun

et al. 2019

Acad Dermatol Venereol

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Dermal melanocytoses (DMs) comprise a heterogeneous group of benign lesions, located on skin and mucous membranes, characterized by dendritic melanocytes in the dermis. Although they share common histopathological features, some variants may present only as bluish or grey patches, some only as papules/nodules/plaques and others may show combination of all of these lesions. Despite the fact that blue naevus (BN) is typically characterized with papulonodular lesions, its variants may show all of the aforementioned presentations. Mongolian spot, naevus of Ota and naevus of Ito are patchy DMs distinguished by their specific localizations. Apart from these classical forms, many atypical variants without unique clinicopathological characteristics have been described in the literature making the nomenclature of DMs more complicated. However, congenital dermal melanocytosis and acquired dermal melanocytosis seem to be crucial umbrella terms that encompass all patchy DMs in atypical locations. Papules or subcutaneous nodules on patchy lesions and association of epidermal pigmentation presenting as brownish patches may be encountered as rare features of DMs. On the other hand, delayed‐onset subcutaneous nodules may be typical presentations of melanoma in patchy DMs; therefore, they deserve special attention. Large plaque‐type BN with subcutaneous cellular nodules is a newly described entity, harbouring clinical features of various DMs together and has a high risk of melanoma. The whole spectrum of dermal dendritic melanocytic proliferations is discussed including novelties and controversial issues.

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Section: Classical Variants Of Dermal Melanocytosesmentioning

confidence: 99%

Section: Mongolian Spotmentioning

confidence: 99%

The spectrum of benign dermal dendritic melanocytic proliferations

Baykal

Yılmaz

Sun

et al. 2019

Acad Dermatol Venereol

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“…In all groups of PPV, it is estimated that half of the patients have systemic manifestations associated, besides skin lesions, the majority of which are ocular, vascular, musculoskeletal and neurological 11. Ophthalmic alterations in PPV include hyperpigmentation of the corneal stroma, conjunctiva, sclera, episclera, iris, trabecular meshwork and choroid.…”

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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“…Glaucoma is normally ipsilateral to the pigmentation and occurs in 10% of patients with ODM and periodic follow-up is highly recommended [29]. Glaucoma can also develop when ODM is associated with other neuro-oculocutaneous diseases, such as the Sturge-Weber syndrome, Klippel-Trenáunay syndrome, and phakomatosis pigmentovascularis [30][31][32][33][34].…”

Section: Glaucomamentioning

confidence: 99%

An update on ophthalmological perspectives in oculodermal melanocytosis (Nevus of Ota)

Abdolrahimzadeh

Pugi

Manni

et al. 2022

Graefes Arch Clin Exp Ophthalmol

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Purpose To provide a review of the literature on oculodermal melanocytosis (ODM) with a focus on the diagnostic and therapeutic implications of multimodal imaging techniques in the management of ophthalmic complications. Methods The authors carried out a literature search on PubMed, Medline, and Scopus of English language articles published on ODM through August 2021. This review presents traditional and novel diagnostic methods in the diagnosis and follow-up of patients with particular emphasis on addressing the role of imaging in the management of the ophthalmic complications of the condition towards improving current practice patterns. Results ODM is a rare, prevalently unilateral, congenital condition that presents with brown or blue/gray flat asymptomatic lesions of the skin, mucosae, episclera/sclera, and uvea localized within the territory of distribution of the ophthalmic and mandibular branches of the trigeminal nerve. Glaucoma and predisposition to uveal melanoma are the main ophthalmic complications. Diagnosis and management are through comprehensive opthalmological examination and traditional imaging methods such as ultrasonography and fluorescein/indocyanine green angiography as pigmentation of the fundus can conceal subtle retinal and choroidal alterations. Anterior segment optical coherence tomography and ultrasound biomicroscopy are used to evaluate the anterior segment and the ciliary body in the presence of glaucoma or melanoma of the anterior uveal tract. Fundus autofluorescence and retinal pigment epithelium (RPE) alterations are of aid in the differential diagnosis between choroidal nevi and melanoma. Enhanced depth imaging spectral domain optical coherence tomography offers outstanding in vivo evaluation of the dimensions and details of tumors or nevi and surrounding choroidal tissues and small choroidal melanomas may show distortions of the retinal and sub-retinal profile, presence of intra and sub-retinal fluid, abnormalities of the RPE, and compression of the choriocapillaris. Conclusions Novel multimodal imaging techniques are significant in the diagnosis and management of the ophthalmic complications of ODM. Fundus autofluorescence and enhanced depth spectral domain optical coherence tomography have adjunctive value in the detection of early-stage melanoma and differential diagnosis between nevi and melanoma. Awareness of current and emerging imaging techniques can propagate improved standardized definition and assessment of the complications of ODM.

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Phakomatosis pigmentovascularis type IIb: A case with Klippel–Trenáunay syndrome and extensive dermal melanocytosis as nevus of Ota, nevus of Ito and ectopic Mongolian spots

Abstract: A 53-year-old man presented with a diffuse bluish gray pigmentation on his left cheek, right back and shoulder, and diffuse red-purple aggregated patches on his upper and lower limbs (Fig. 1a,b). There was no familial history of PPV or other

Cited by 9 publications

References 5 publications

The spectrum of benign dermal dendritic melanocytic proliferations

The spectrum of benign dermal dendritic melanocytic proliferations

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

An update on ophthalmological perspectives in oculodermal melanocytosis (Nevus of Ota)

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