Phakomatosis pigmentovascularis type II b associated with Sturge-Weber syndrome

Conflict of interest: none. Phakomatosis pigmentovascularis (PPV) is characterized by the presence of both vascular and melanocytic naevi and associated defects of various organs, especially the eyes and nervous system. PPV is categorized into five types, (I–V), depending on the dermatological appearance. Each is again subclassified according to absence (type a) or presence (type b) of systemic involvement. We report the first instance of a case of PPV type IIb associated with Sturge–Weber syndrome (SWS) in an Indian child. A 6‐month‐old boy born to nonconsanguinous parents presented with extensive pigmentation of the skin that had been present since birth. He had a 1‐month history of right‐sided focal seizures. Examination revealed multiple, large, irregular areas of slate‐grey pigmentation involving the whole of trunk and extremities with areas of normal skin in between. A large naevus flammeus involved the face and extended onto the trunk and upper limbs (Fig. 1a). There was no hyperplasia of any part of the body. Patchy bluish‐grey discolouration was present on both sclerae. Ophthalmological examination showed normal corneal diameter and normal intraocular pressure in both eyes. There was no evidence of iris hamartomas or episcleral vascular malformations. The fundus was normal, except for generalized pigmentation. Cranial computed tomographic scan showed linear and serpiginous calcification suggestive of vascular malformations in the left parieto‐occipital and temporal regions (Fig. 1b), and vascular enhancement of the same regions after contrast agent administration. Brain magnetic resonance imaging (MRI) showed atrophy with gyriform enhancement over the left cerebral hemisphere suggestive of SWS. The patient's haemogram, biochemical parameters, chest X‐rays, abdominal ultrasonogram and electroencephalogram were all within normal limits. He was diagnosed as having PPV type IIb associated with SWS and started on oral phenytoin 25 mg once daily, which resulted in control of seizures.