Congenital vascular malformation associated with multiple cranial, vertebral and upper limb skeletal abnormalities

Abstract

The association between congenital vascular malformations and altered bone growth, the so-called vascular bone syndrome, is well documented. Various eponymous syndromes each with their individual traits, such as Klippel–Trenaunay, Parkes–Weber and Servelle–Martorell syndrome have been described, along with variations. We report on a previously undescribed case of congenital vascular malformation associated with multiple skeletal abnormalities affecting the skull, vertebrae and right upper limb, and discuss the literature.

The association between congenital vascular malformations and altered bone growth is well documented.¹ So-called vascular bone syndrome is a pathological enhancement or reduction in long bone growth related to congenital abnormal circulation. Various eponymous syndromes have been described, each with individual traits. Klippel–Trenaunay syndrome was originally defined as a triad of cutaneous capillary malformation (port-wine stain), varicose veins and hypertrophy of the affected limb. Parkes–Weber syndrome refers to limb hypertrophy with clinical signs of arteriovenous fistula. Servelle–Martorell syndrome is characterised by venous malformations and limb hypertrophy associated with bony hypoplasia. In all such syndromes, the skeletal abnormality is confined to a particular limb. We report on a previously undescribed case of congenital vascular malformation associated with multiple skeletal abnormalities affecting the skull, vertebrae and right upper limb.

Case history

An 18-year-old Saudi man was referred with a large naevus overlying the right side of his face, neck and shoulder region (Fig. 1). This was associated with multiple skeletal abnormalities, some only identifiable radiologically. The naevus, present since birth, was dark red/brown in colour. It had a thickened texture in comparison to the normal skin and extended to, but did not cross, the anterior chest in the midline. This was a large single cutaneous defect, with no other skin lesions present. There was an obvious bony prominence at the right sternoclavicular joint and, similarly, at the lateral aspect of the right elbow on flexion. The right arm was normal, but the forearm was bowed and the hand hypoplastic. Pronation, supination, movements at the wrist and grip strength, were all normal. The remaining limbs were normal and eye examination was unremarkable. There was no mental retardation or neurological abnormalities. The patient’s family history was unremarkable; his parents, three brothers and two sisters displaying no obvious abnormalities. There was no history of maternal diabetes.

Figure 1.

Large naevus overlying the right side of his face, neck and shoulder region, with obvious bony prominence over medial clavicle and lateral elbow on the right.

Radiological investigation revealed the following abnormalities. The left orbit was small in comparison to the right and the sella turcica exhibited a j-shaped deformity. There was partial fusion of the anterior aspects of the C2 and C3 vertebrae. The medial head of the right clavicle was dislocated and there was resorption of its distal third. The right radius was bowed and dislocated at the humerus, with resorption of the mid and distal ulna (Fig. 2). There was marked abnormality of the right carpus, with absence of the triquetral, pisiform and hamate bones. The trapezoid was smaller than would be expected.

Figure 2.

Lateral (left) and anteroposterior (right) radiographs of the right forearm. The right radius is bowed and dislocated at the humerus, with resorption of the mid and distal ulna.

Discussion

This case represents a unique collection of skeletal abnormalities associated with a congenital vascular malformation. It contains features of various syndromes that have previously been described but does not fall within any one diagnosis. Perhaps the most striking feature is the large port-wine stain affecting the right side of the face, neck and upper chest.

Port-wine stain is the most common type of vascular malformation and is a congenital defect of the superficial dermal blood vessels. It is a feature in common with Klippel–Trenaunay syndrome and Sturge–Weber syndrome. Unlike Sturge–Weber syndrome, the naevus in this case did not have a trigeminal distribution and there was no evidence of mental retardation or seizures. Nor were there the varicose veins or limb hypertrophy associated with Klippel–Trenaunay syndrome. Indeed, a notable feature of this case is bone hypotrophy, with resorption of both the distal clavicle and the distal ulna. Interestingly, Yoon et al.² recently reported on a 12-year-old Korean girl with Klippel–Trenaunay syndrome and hypotrophy of the affected arm. Radiographs of the limb showed decreased bone length and diameter. However, the affected bones (i.e. the humerus, radius and ulnar) were completely ossified and no other skeletal abnormalities were noted.

Servelle–Martorell syndrome is characterised by venous or, rarely, arterial malformations that may result in limb hypertrophy and bony hypoplasia. It is thought that intra-osseous vascular malformations may lead to hypoplasia of the bone resulting in shortening and hypoplasia of the limb.³ However, Servelle–Martorell syndrome is typically associated with multiple soft tissue swellings, venous ectasia and multiple phleboliths. Our patient had no soft tissue swelling or limb hypertrophy.

Multiple congenital defects associated with port-wine stain are a feature of the autosomal recessive disorder Mulibrey nanisn. In a study of 85 affected patients by Karlberg et al.,⁴ 60% had a port-wine stain. A quarter displayed fibrous dysplasia of long bones. Ninety-five percent had prenatal onset growth failure and 90% displayed characteristic facial features including scaphocephaly, facial triangularity, high and broad forehead, and low nasal bridge. Clearly, this is at odds with our patient, who did not suffer from growth failure and displayed no such facial stigmata.

Various syndromes involve dysplasia of the forearm bones. Alagille syndrome is an autosomal dominant disorder with highly variable expressivity. It is associated with abnormalities of the liver, eye and skeleton and a characteristic facial appearance. The most common skeletal abnormality encountered is butterfly vertebrae with incomplete fusion of the anterior arch. Abnormalities of the appendicular skeleton are much less frequently observed; in a review of 37 cases, five (13%) displayed ulnar shortening.⁵

Neurofibromatosis, although not a congenital vascular anomaly, is a heterogeneous multisystemic neurocutaneous disorder, which can display similar pathology to our reported case. The most common feature associated with this condition is multiple cutaneous neurofibromas, and intracranial lesions such as gliomas and schwannomas. Other features associated with neurofibromatosis include skull defects including orbital anomalies, hyper/hypoplasia of long bones and dislocation of the radius and ulna. Although some of these features are in keeping with our case, there was no clinical evidence of multiple cutaneous lesions, other than the single port-wine stain, no neurological deficit and no evidence of any family history. Our patient did not fulfil any of the diagnostic criteria for neurofibromatosis.⁶

As an isolated finding, ulnar longitudinal dysplasia is an uncommon anomaly. First described by Goller in 1698, the deformity was originally classified by Swanson and again, more recently by Bayne.⁷ The clinical findings associated with ulnar longitudinal dysplasia vary widely with deficiencies ranging from absence or hypoplasia of the ulna, to carpal hypoplasia or coalition, to hypoplasia or absence of digits, humerus, or shoulder girdle. Our patient, with partial ulna aplasia, bowing of the radius, posterolateral dislocation of the radius and carpal deficiencies, would be classified as Bayne type II. However, the association with a port-wine stain, vertebral and cranial abnormalities, has not been described.

Conclusions

This case represents a previously undescribed collection of vascular and bony abnormalities. It probably falls within the broadly defined term ‘congenital vascular bone syndrome’, i.e. an alteration in limb growth caused by congenital vascular malformations in childhood.