Sturge-Weber Syndrome

Pascual-Castroviejo, I; Konez, Orhan; Rocco, Concezio Di; Ruggieri, Martino

doi:10.1007/978-3-211-69500-5_10

Cited by 3 publications

(2 citation statements)

References 82 publications

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“…The characteristic cutaneous manifestation is the multiple whorl-like or linear hypopigmentation along Blaschko's line. The pigmentary lesions are recognized at birth or within few years, and do not require special treatment in most cases 12 13 14 . Some patients also have extracutaneous involvements including neurological, musculoskeletal, ocular, and other systemic abnormalities ( Table 1 ) 8 12 14 15 16 .…”

Section: Discussionmentioning

confidence: 99%

Hypomelanosis of Ito with Multiple Congenital Anomalies

Kwon

Kim

2019

Ann Dermatol

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Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.

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Section: Discussionmentioning

confidence: 99%

Hypomelanosis of Ito with Multiple Congenital Anomalies

Kwon

Kim

2019

Ann Dermatol

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“…1 Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis is a sporadic congenital vascular disorder involving the skin typically along the trigeminal nerve distribution (port wine stain), ipsilateral leptomeninges/ brain, and the eye. 2 Oculodermal melanocytosis or nevus of Ota which is a hamartomatous lesion of melanocytes, is characterized by unilateral or bilateral hyperpigmentation of eye, facial skin, and mucous membrane. Its distribution corresponds to the branches of the trigeminal nerve.…”

Section: Introductionmentioning

confidence: 99%

Phacomatosis pigmentovascularis with sturge-weber syndrome and congenital glaucoma: A rare case report

Manavalan

Kaliaperumal

Subramanian

et al. 2021

European Journal of Ophthalmology

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Phacomatosis pigmentovascularis (PPV) is a rare congenital disease characterized by the co-existence of cutaneous vascular malformation and pigmentary nevi with or without extracutaneous systemic involvement. Here, we present a 2-month old child diagnosed with phacomatosis cesioflammea type of PPV with Sturge-Weber syndrome and secondary congenital glaucoma of the left eye. She underwent combined trabeculotomy and trabeculectomy in the left eye for glaucoma and was started on anti-epileptics for seizure control following pediatric evaluation. Early screening and treatment initiation can prevent blindness and other systemic complications associated with PPV.

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A Rare Case of Retinal Detachment With Choroidal Haemangioma Associated With Sturge–weber Syndrome Mimicking Schwartz Syndrome

Satyawali¹,

Govindsinghtitiyal²,

Sharma³

et al. 2013

jemds

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ABSTRACT:The objective of present study was to compare the results of endonasal endoscopic dacryocystorhinostomy and external dacryocystorhinostomy. It was a prospective study. Forty two consecutive patients having complaints of epiphora, swelling near medial canthus, angular conjunctival congestion, with naso lacrimal duct obstruction were selected for the study. Selection of type of operation was left to the patient's choice. All patients had preoperative counseling and both the procedures were explained in detail with their advantages and disadvantages. Twenty two patients underwent endonasal dacryocystorhinostomy and twenty had external dacryocystorhinostomy. The follow-up was done at 7 th , 21 st , & 3 months after surgery. The patency of lacrimal passage was confirmed by syringing and patients were questioned about their symptoms. There was no significant difference in the results of both surgeries. The complication rate in both groups was almost equal. Thus we came to the conclusion that these two different dacryocystorhinostomy techniques are acceptable alternative. Success of external DCR & endonasal DCR based on patency of passage on 3 rd month was 85% & 81.8% respectively.

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Sturge-Weber Syndrome

Cited by 3 publications

References 82 publications

Hypomelanosis of Ito with Multiple Congenital Anomalies

Hypomelanosis of Ito with Multiple Congenital Anomalies

Phacomatosis pigmentovascularis with sturge-weber syndrome and congenital glaucoma: A rare case report

A Rare Case of Retinal Detachment With Choroidal Haemangioma Associated With Sturge–weber Syndrome Mimicking Schwartz Syndrome

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