Two Reports of Phacomatosis Pigmentovascularis Type Iib, One in Association with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

Abstract

We present two rare cases of phacomatosis pigmentovascularis type IIb, with one patient demonstrating concurrent Sturge-Weber syndrome and Klippel-Trenaunay syndrome. To the best of our knowledge, this is the second infantile case meeting diagnostic criteria for systemic phacomatosis pigmentovascularis type IIb, Sturge-Weber syndrome and Klippel-Trenaunay syndrome in the English language literature.

Phacomatosis pigmentovascularis type IIa - case report

“…The most common association with extra cutaneous presentations is with the Sturge-Weber syndrome and with the Klippel-Trénauney syndrome, individually or combined. 7 …”

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

“…These interesting combinations of clinical and radiological findings have been extremely rarely reported in the literature. [14][15][16] Phakomatosis pigmentovascularis has also been reported to be associated with temporal alopecia, malignant colon polyposis, scoliosis and leg length discrepancy, hypoplastic larynx and subglottic stenosis, multiple granular cell tumor, selective IgA deficiency, iris hamartomas, and generalized vitiligo. [17][18][19][20][21][22] However, our patient did not have any such abnormalities.…”

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

“…The anomalous venous network present in KTS may be associated with a chronic intravascular coagulopathy and patients are at risk of developing a thromboembolic event 15. Therefore, the evaluation of a patient with PPV should include an appropriate screening for systemic involvement which greatly determines the prognosis of the disease 16. In fact, evolution and prognosis of PPV depend on extracutaneous manifestations, since patients without systemic involvement have a benign course and do not require treatment 17.…”