Phakomatosis pigmentovascularis with cavernous transformation of the portal vein

Dear Editor,

Phakomatosis pigmentovascularis (PPV) is a rare genetic condition characterised by the coexistence of capillary malformations and pigmentary lesions.¹ PPV was initially classified from type I to type IV.¹ Type I comprises naevus flammeus and linear epidermal naevus. Type II includes naevus flammeus and dermal melanocytosis. Naevus flammeus and naevus spilus are seen in type III, while type III, along with dermal melanocytosis, constitutes type IV. Type V, which includes cutis marmorata telangiectatica congenita and dermal melanocytosis, was introduced later.² Each type is further subclassified into (a) only cutaneous manifestation and (b) systemic involvement.³

Non-allelic twin spotting was previously suggested as the genetic explanation for the development of vascular and pigmentary lesions in PPV.³ The twin spotting theory has been disproven, and the genetic foundation of PPV is understood to be a postzygotic somatic gain-of-function mutation in GNA11 and GNAQ.⁴ Sturge-Weber syndrome and Klippel-Trenaunay syndrome were also found to be associated with PPV in some case reports. Here, we present, for the first time, a case of phakomatosis pigmentovascularis (PPV) with cavernous transformation of the portal vein (CTPV).

A 32-year-old male presented with asymptomatic, reddish lesions over the right side of his trunk since birth. They were gradually getting darker and increasing in size. He also had dark discolouration over the right side of his face and right eye since birth. He had been experiencing blurred vision for the past 3 months. Dermatological examination revealed multiple discrete and confluent hyperpigmented macules on the background of an ill-defined greyish patch involving the right cheek, temporal region, and periorbital area, suggestive of naevus of Ota [Figure 1]. Greyish black discolouration of the right conjunctiva was present. Multiple well-defined erythematous patches and plaques with geographic borders of varying sizes were present over the right shoulder, chest, abdomen, axilla, upper limb, forearm, and both sides in the back [Figure 2]. Axillary freckling was noted on the left side. The right palm showed faint erythema and hypertrophy compared to the left side. Facial asymmetry was noted. Dermoscopy revealed linear irregular vessels, red dots, and globules in capillary malformation and brownish structureless areas in the Naevus of Ota. Ophthalmic examination by Goniolens showed primary open-angle glaucoma with amblyopia. Systemic examination revealed mild hepatomegaly and splenomegaly of 6 cm below the left costal margin. Baseline blood investigations were normal. Electrocardiogram, X-ray chest, and echocardiogram were normal. Ultrasonogram and magnetic resonance cholangiopancreatography revealed splenomegaly and cavernous malformation of the portal vein (CTPV). Balanced Turbo Field Echo (BTFE) coronal MRI sequence of the abdomen revealed CTPV at the porta hepatis [Figure 3]. Fibroscan of the liver was normal. CT brain, MRI brain, and MR Angiography brain were normal. Genetic analysis could not be done as the patient did not consent. Thus, PPV type IIb/Phakomatosis cesioflammea was diagnosed.

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Figure 1:

Naevus of Ota with ocular involvement and asymmetry of the face.

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Figure 2:

Naevus flammeus on the back.

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Figure 3:

Balanced turbo field echo (BTFE) coronal MRI SEQUENCE of the abdomen showing cavernous transformation of the portal vein at the porta hepatis (red arrow).

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PPV is a mosaic disorder with simultaneous expression of vascular lesions and pigmentary lesions. Happle reclassified PPV into phakomatosis cesioflammea (type II), phakomatosis spilorosea (type III), phakomatosis cesiomarmorata (type V), and unclassifiable forms (including type IV).⁵ Happle’s classification excluded type I since linear epidermal naevus does not develop from melanocytes.³ Clinical distinction based on cutaneous and extracutaneous features was eliminated.⁵ Common extracutaneous features reported include ocular melanocytosis, glaucoma, neurological abnormalities (seizures, developmental delay, central nervous system structural anomalies), iris abnormalities, choroidal melanoma, and asymmetric overgrowth of face and limbs, often ipsilateral to vascular malformations.⁴ This highlights the need for systemic examination and examination of underlying structures for signs of overgrowth. Our patient had primary open-angle glaucoma, mild facial asymmetry, and splenomegaly with CTPV. CTPV was an incidental finding while evaluating hepatosplenomegaly, and the patient was asymptomatic. CTPV may lead to portal hypertension-related complications. The patient is currently under regular follow-up in the medicine department to monitor for signs of portal hypertension, such as variceal bleeding or ascites. CTPV refers to the development of collateral venous channels around or within a stenosed or occluded portal vein. The aetiology of CTPV is thought to involve one of three possible mechanisms: congenital malformation, portal vein haemangioma, or recanalization following portal vein thrombosis.⁶ Hypoplastic iliac and portal veins leading to oesophageal varices and atrophy of the right hepatic lobe have been reported by Kaise et al.⁷ Only two cases of hepatosplenomegaly in patients with PPV have been reported in the literature so far. It is possible that similar genetic mutations result in PPV and CTPV; further studies are required to assess this. Patients of PPV need to be monitored for hepatosplenomegaly and CTPV. If CTPV is detected, patients should be on follow-up to detect the development of portal hypertension

Thus, we report a unique case of phakomatosis cesioflammea with rare manifestations like hepatosplenomegaly and CPTV.