Rud Syndrome
Overview
A condition characterized by ichthyosis, epilepsy, short stature, hypogonadism and severe mental retardation.
Symptoms
* Erythroderma ichthyosiform * Dwarfism * Mental deficiency * Reduced hormone production by testes * Reduced hormone production by ovaries * Epilepsy * Chronic anemia * Muscular atrophy * Arachnodactyly * Megaloblastic anemia
Causes
* Genetic mutations are the cause; both autosomal recessive inheritance and X-linked recessive inheritance have been reported. * A genetic defect may be a cause. Although unknown, the genetic defect is suspected to involve a deletion of the steroid sulfatase locus. * The heterogeneity of the genetic abnormalities may account for the presence of X-linked ichthyosis–like skin changes in male and female patients.
Diagnosis
Begin the history by asking how long the patient has had scaly skin and whether he has had it before. Where did it first appear? Did a lesion or skin eruption, such as erythema, precede it? Has the patient used a new or different topical skin product recently? How often does he bathe? Has he had recent joint pain, illness, or malaise? Ask the patient about work exposure to chemicals, use of prescribed drugs, and a family history of skin disorders. Find out what kinds of soap, cosmetics, skin lotion, and hair preparations he uses. Next, examine the entire skin surface. Is it dry, oily, moist, or greasy? Observe the general pattern of skin lesions, and record their location. Note their color, shape, and size. Are they thick or fine? Do they itch? Does the patient have other lesions besides scaly skin? Examine the mucous membranes of his mouth, lips, and nose, and inspect his ears, hair, and nails.
Treatment
Generally, treatment of epilepsy consists of anticonvulsant therapy to reduce the number of future seizures. The most commonly prescribed drugs include phenytoin, carbamazepine, phenobarbital, gabapentin, or primidone administered individually for generalized tonic-clonic seizures and complex partial seizures. Valproic acid, clonazepam, and ethosuximide are commonly prescribed for absence seizures. Gabapentin and felbamate are also anticonvulsant drugs. A patient taking anticonvulsant medications requires monitoring for toxic signs: nystagmus, ataxia, lethargy, dizziness, drowsiness, slurred speech, irritability, nausea, and vomiting. If drug therapy fails, treatment may include surgical removal of a demonstrated focal lesion to attempt to stop seizures. Emergency treatment of status epilepticus usually consists of diazepam (or lorazepam), phenytoin, or phenobarbital; dextrose 50% I.V. (when seizures are secondary to hypoglycemia); and thiamine I.V. (in chronic alcoholism or withdrawal).