Phakomatosis Pigmentovascularis Type IIb Research Articles

Endovascular Treatment of Klippel-Trenaunay Syndrome

Endovascular Treatment of Klippel-Trenaunay Syndrome

A rare case of phakomatosis pigmentovascularis type IIb associated with inverse Klippel–Trenaunay syndrome and Sturge–Weber syndrome

A rare case of phakomatosis pigmentovascularis type IIb associated with inverse Klippel–Trenaunay syndrome and Sturge–Weber syndrome

Phakomatosis Pigmentovascularis Associated With Sturge–Weber Syndrome, Ota Nevus, and Congenital Glaucoma

Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis.We describe 3 cases of PPV combined with bilateral Sturge–Weber syndrome (SWS), Ota nevus, and congenital glaucoma.Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh. Bilateral triangular alopecia was found on the temporal scalp. The diagnosis of Ota nevus was made by the bilateral scleral malanocystosis. Increased intraocular pressure, enlarged cornea, and pathologic optic disc cupping supported the diagnoses of infantile bilateral glaucoma. Case 2 was a 4-year-old boy. Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography showed choroidal hemagioma. OCT scan showed increased choroidal thickness. The bilateral triangular alopecia on the child's temporal scalp was similar to that of Case 1. Cases 1 and 2 presented with port-wine stain patches that were consistent with the characteristic manifestation of PPV type IIb. However, the CMTC of Case 3 met the diagnostic criteria for PPV type Vb.Case 1 was treated with trabeculotomies in both eyes. For Cases 2 and 3, surgical interventions were not considered due to the high risks of antiglaucomatous operation complications. We prescribed them antiglaucoma indications.The simultaneously coexistence of PPV with SWS, Ota nevus, and congenital glaucoma is rare. In the clinic, additional detailed examinations and tests of PPV patients to exclude other ocular abnormalities or extraocular involvements are necessary.

Sturge-Weber syndrome in association with Klippel-Trenaunay syndrome and phakomatosis pigmentovascularis type IIb

Phakomatosis pigmentovascularis (PPV) is a rare combination of pigmentary and vascular components with or without systemic involvement. We report here a rare association of Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and PPV type IIb in a 15-year-old boy who had right upper limb monoparesis along with a history of recurrent convulsions.

Phakomatosis pigmentovascularis type IIb associated with Klippel–Trénaunay syndrome and congenital triangular alopecia

To the Editor: Phakomatosis pigmentovascularis (PPV) is a rare congenital condition that was first defined by Ota in 1947 as the association of a vascular malformation with extensive pigmented nevi. The abnormal migration of melanocytes and the aberrant development of blood vessels during embryogenesis are considered in the ethiopathogenesis.1 Another hypothesis is the loss of heterozygosity namely nonallelic twin spoting.2

Phakomatosis Pigmentovascularis Type IIb Associated with Sturge‐Weber Syndrome

We describe a 23-month-old child with phakomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome. Phakomatosis pigmentovascularis type IIb is a rare cutaneous malformation characterized by the simultaneous occurrence of nevus flammeus and melanocytic nevi. A brief review of the literature is presented and classification of this rare disease is discussed.

Phakomatosis Pigmentovascularis Type IIb With Iris Mammillations

Phakomatosis pigmentovascularis type IIb is a syndrome in which extensive nevus flammeus is associated with persistent aberrant mongolian spots. Herein, we describe a patient with phakomatosis pigmentovascularis who had numerous iris mammillations that were initially mistaken for the Lisch nodules of neurofibromatosis type I. A 5-year-old girl with phakomatosis pigmentovascularis type IIb was found to have bilateral melanosis oculi and numerous iris mammillations. The mammillations differed from Lisch nodules in their smaller size, stellate shape, darker color, increased number, and more regular distribution. Similar iris mammillations have been described in patients with melanosis oculi accompanying nevus of Ota. Patients with phakomatosis pigmentovascularis can present with the clinical manifestations of one or more of the following: Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and melanosis oculi; our patient had clinical features of all three of these entities. In addition, the presence of iris mammillations in this patient can be explained by their known association with melanosis oculi.