Tufted angioma in a case of neurofibromatosis type I

Introduction

Neurofibromatosis type I is inherited in an autosomal dominant manner. Tufted angioma, rare benign tumor with a characteristic histopathological appearance, is reported here in a case of neurofibro-matosis type-1 probably for the first time.

Case Report

A 19-year- old female patient presented to the Dermatology O.P with multiple nodules all over the body of 6 years duration. They were completely asymptomatic and she had come purely for the cos-metic disfigurement. Examination revealed 50 to 60 soft papules and nodules varying in size from 0.2 cms x 0.2 cms to about 4x3 cms. Button hole sign was seen in the nodules. In addition, she had 9 cafe-au-fait macules varying in size from 2 x 5 cms to 5x4 cms, distributed mainly over the trunk. Slit lamp examination showed multiple Lisch nodules in the iris. A diagnosis of von Recklinghausens disease was made. On further examination, she had an erythema-tous, dull red macule measuring about 4x 3 cms. on the right side of the abdomen, superolateral to the umbilicus. On probing into the history, it was found that this lesion was present from the age of 4, had grown in size for 6 years and then remained static thereafter. It was soft in consistency and showed [Figure - 1] 4 papules on its surface. A tentative diagnosis of haemangioma was made.

Routine investigations were within normal lim-its. X rays of the chest, lumbosacral spine, thoracic spine, tibia and skull were normal. Two biopsies were taken, one from a nodule of neurofibromatosis and another from the angioma. The former showed fea-tures of a typical neurofibroma. The latter showed circumscribed angiomatous aggregate [Figure - 2], some of which were small and elongated, scattered through the dermis. These aggregates were closely packed blood capillaries composed of both endothelial cells and pericytes [Figure - 3]. A diagnosis of tufted angioma was made.

Discussion

Tufted angiomas are rare benign tumours first reported by Nakagawa in the Japanese literature as angioblastoma of the skin.[1] It was termed acquired tufted angioma by Wilson Jones in 1978 on the basis of its unique histological appearance.[2]

These lesions usually appear before adoles-cence and in more than half the cases, are seen in the first 5 years of life. They enlarge for several years before stabilizing.[3],[4] In our patient, the lesion first appeared at the age of 4, gradually increased in size over the next 6 years and has subsequently re-mained stable.

Only a few of the tufted angiomas showed a bright red color. This is understandable as the angio, affects the lower more than the upper dermis and vascular clefts are relatively bloodless.[2] They usually range in size from 2 to 5 cm. and the neck, back and trunk are the most frequent sites affected. Rarely, these tumors can be painful.[5] Our patient had 4 papules on the angioma. This finding has already been reported in association with tufted angioma.[6]

Histologically, the striking feature is the focal arrangement of tightly packed capillary vessels at various levels in the dermis. Generally, the vessels occur in discrete rounded or ovoid tufts are com-posed of hypertrophied endothelial cells so packed together that lumens of capillaries are difficult to define. Our case showed all these features.

The occurrence of angiomas in neurofibro-matosis has already been reported.[6] They usually develop in early and middle adulthood, in the latter instances being indistinguishable from common Mor-gan angiomas. It has been postulated that large ves-sel and small vessel vascular defects may be crucial aspects of neurofibromatosis path ogenesiS.[7],[8] How-ever, the occurrence of tufted angioma in neurofi-bromatosis has hitherto not been reported. Careful surveillance is needed to detect this association in all newly diagnosed cases of neurofibromatosis.