A rare keratodermal syndrome where nail dystrophies
are associated with axonal neuropathy and sometimes respiratory
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
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
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
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.
Powell FC, Venencie PY, Gordon H, et al: Keratoderma and spastic
paralysis. Br J Dermatol