Sir,

Naevus of Ota, originally described by Ota,1 is a hamartoma of dermal melanocytes. Naevi of Ota and Ito occur most frequently in Asian populations. Other ethnic groups with increased prevalence include Africans, African Americans, and East Indians. Women have a higher incidence than men. It is uncommon in Caucasians. Well-known associations include the Sturge–Weber syndrome, glaucoma, and rarely ocular melanoma. We describe a case of bilateral Naevus of Ota in association with Klippel–Trenaunay Syndrome.

Case report

A 25-year-old Caucasian women who was being investigated by the rheumatologists for multiple joint swelling and pain was noticed to have an unusual bilateral ocular discolouration. She was referred for ophthalmic review. On examination she had bilateral pigmentation affecting the anterior sclera bilaterally (Figure 1a). Both lateral lid margins were pigmented. All these had been present since birth. Her fundoscopy and intraocular pressure were normal on examination. A diagnosis of bilateral naevus of Ota was made.

Figure 1
figure 1

(a) Bilateral naevus of Ota with pigmentation also affecting both lid margins. (b) Left leg port-wine stain associated with local gigantism and varicose veins.

Full size image

Following review by the rheumatologists and vascular surgeons, she was noted to have multiple large areas of what the patient described as a birthmark over her scalp, neck, trunk, and leg. On her left leg she had a port-wine stain, extending over the whole lateral and posterior length of the leg associated with local gigantism and varicose veins (Figure 1b). A diagnosis of Klippel–Trenaunay Syndrome was made, for which conservative treatment was instituted.

Discussion

The clinical findings in this patient are characteristic of Phacomatosis Cesioflammea with Klippel–Trenaunay Syndrome. Phacomatosis Cesioflammea,2 was earlier called phacomatosis pigmentovascularis (PPV) Type II. PPV is a rare syndrome defined as an association of a widespread vascular naevus (port-wine stain) with an extensive pigmentary naevus,3 such as a naevus of ota or Mongolian spots.

Klippel–Trenaunay Syndrome manifests as a triad of capillary malformation, congenital varicose veins, and hypertrophy of underlying tissues, particularly skeletal overgrowth. Unilateral lower limbs are frequently involved.

This case report, in addition to only one other, that of Talwar et al,4 highlights that an association may exist between a bilateral Naevus of Ota, when phacomatosis cesioflammea exists in tandem with Klippel–Trenaunay Syndrome.