Phakomatosis pigmentovascularis type IIb with a patent umbilical vein and inferior vena cava hypoplasia.

Abstract

Sir, Phakomatosis pigmentovascularis (PPV) was first described by Ota et al. in 1947,1 and is classified into four types. Type I consists of the association of naevus flammeus with naevus pigmentosus verrucosus; type II is characterized by the coexistence of naevus flammeus and dermal melanocytosis; type III is the combination of naevus flammeus with naevus spilus; and type IV is defined by the association of naevus flammeus, naevus spilus and dermal melanocytosis. Each type is further subdivided: (a) when only cutaneous involvement is present and (b) when cutaneous and systemic involvement is found. Naevus anaemicus can be an additional feature in types II, III and IV. Type II is the most common variant of PPV;2 we present a case of PPV type IIb with a patent umbilical vein and inferior vena cava (IVC) hypoplasia. To the best of our knowledge, this condition has never been described before. A 20‐year‐old man had naevus of Ota, aberrant Mongolian spots, bilateral temporal alopecia, tooth deformity and left ocular atrophy (Fig. 1). He had been born by normal delivery at full term and his siblings were unaffected. His parents were not consanguineous, but his mother had schizophrenia. In addition, an extensive port‐wine stain on the left side of the face and on the trunk with pigmentary mosacism was noted. The latter was manifested as an incomplete checkerboard pattern on the anterior trunk and a phylloid pattern on the back (Fig. 2). No naevus anaemicus was found. The patient had Sturge–Weber syndrome and had been taking anticonvulsant medication since infancy. One episode of seizure resulted in right hemiplegia at age 11 years. Computed tomography of the brain demonstrated left cerebral calcification and atrophy. He had pelvic obliquity and compensatory scoliosis. X‐ray of the lower limbs showed that his legs were of unequal length. Several angiomas, vascular malformations and hypoplasia of the deep venous system over the right leg were found on angiography of the bilateral lower limbs, and Klippel–Trenaunay syndrome was diagnosed. In addition, a few engorged veins crossing the abdomen, with the largest extending from the right pubic area to the submammary region, were noted (Fig. 2a). Against the hepatofugal venous flow on portal hypertension, the blood flow of the varices was hepatopetal on abdominal colour Doppler sonography. In addition, upper gastroenteric endoscopy showed no oesophageal varices. Ultrasonography and computed tomography of the abdomen showed a patent umbilical vein and hypoplasia of the infrarenal segment of the IVC. Inferior venacavography showed prominent collaterals that drained into umbilical and varicose veins on the anterior abdominal wall, and retrograde filling of the left portal vein was via the umbilical vein. All these imaging findings suggested hypoplasia of the infrarenal segment of the IVC.