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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease angioosteohypertrophic syndrome
Comorbidity C0235752|port-wine stain
Sentences 9
PubMedID- 26064732 [11] reported a case with port-wine stain, nevus of ota, sturge-weber syndrome, and klippel-trénaunay syndrome.
PubMedID- 25657402 Hereby, we report a case where our patient presented with port-wine stain, nevus of ota, sturge-weber syndrome, and klippel-trenaunay syndrome; which has made it a rare combination.
PubMedID- 21906147 Sturge-weber syndrome in patients with facial port-wine stain.
PubMedID- 25619539 Results: benign pathological conditions: squamous metaplasia, duplicated ureteral orifice, ureterocele, hutch diverticulum, bladder trabeculation, urachal cyst, interstitial cystitis with and without hunner's lesion, endometriosis in the bladder, port-wine stain due to klippel-trenaunay-weber syndrome, nephrogenic (mesonephric) metaplasia, and cystitis glandularis (intestinal metaplasia).
PubMedID- 24808722 Sturge–weber syndrome typically presents with a port-wine stain involving the trigeminal region, glaucoma, and leptomeningeal angiomatosis, which is frequently unilateral and predominant posteriorly.
PubMedID- 25592619 A prospective study of risk for sturge-weber syndrome in children with upper facial port-wine stain.
PubMedID- 22132016 port-wine stain of sturge-weber syndrome and café- au- lait pigmentation of neurofibromatosis are the major differential diagnoses for nevus of ota.1213 the various treatment modalities available for nevus of ota involving the skin includes dermabrasion, epidermal peeling and argon laser.
PubMedID- 24207015 port-wine stains in patients with sturge-weber syndrome often distribute in the facial areas innervated by the first (v1) and second (v2) branches of trigeminal nerve, while the third (v3) branch and contralateral face can also be involved in some cases.
PubMedID- 23445899 Case presentations: in the first of two cases reported here, a 2-week-old japanese baby girl was given a diagnosis of phacomatosis pigmentovascularis type ii and klippel-trenaunay syndrome because of port-wine stains, cutis marmorata telangiectatica congenita, and aberrant mongolian spots over her trunk and limbs.

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