Powell Venencie Gordon Syndrome

A rare keratodermal syndrome where nail dystrophies are associated with axonal neuropathy and sometimes respiratory insufficiency.

Palmoplantar Keratoderma with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy Syndrome; Axonal Neuropathy with Palmoplantar Keratoderma; Charcot-Marie-Tooth Disease with Palmoplantar Keratoderma and Nail Dystrophy Syndrome.

First described by J.L. Thonie in 1988.

Very rare; unknown precisely.

Autosomal dominant heterogeneous.

The cause remains unknown. The concurrence of the lesions can be interpreted to mean either that the keratoderma and the paraplegia are the pleiotropic effects of the same mutant gene or, less likely, that they are the manifestations of two different autosomal mutations.

Must be evoked by association of signs. No certitude.

Nail dystrophy affects both toes and fingers; it can be present at birth or developed during early childhood. Palmoplantar keratoderma becomes apparent in later childhood. Clinical (abnormal gait, hypertonia, spasticity, rigidity, paraparesis, quadriparesis) or electrophysiological evidence of axonal neuropathy with muscular atrophia are observed. Muscle histological lesions can be present. Respiratory insufficiency can occur.

Evaluate severity of the neurological and muscular lesions (clinical, electromyography, somatosensory, and motor evoked potentials). Evaluate respiratory function (chest radiograph, pulmonary function test, arterial blood gas analysis).

Intraoperative positioning must be careful. Pulse oximetry signal can be difficult to obtain because of nail dystrophy and its reliability has to be evaluated. Perioperative respiratory function survey if necessary.

Muscles relaxants are not contraindicated but have to be used with caution and with a monitoring device. Succinylcholine must be avoided in case of acute exacerbation of the neurological signs (risk of hyperkaliemia). Opioids could be used with caution in spontaneously breathing patients. Regional anesthetic techniques, when applicable, might be preferable even though there are no data in this pathology.

Venencie Powell Winkelmann Syndrome: In this syndrome multiple orthopedic malformations are associated including scoliosis and brachydactyly. A particular face is observed (narrow nose, prematurely aged face).

Fitzsimmons Syndrome: Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis. The spasticity affects all four limbs (spastic paraplegia), pes cavus deformity with abnormal gait, and skin changes. It was described in four brothers in 1983 by J.B. Fitzsimmons, a British physician.