Rud Syndrome

At a glance

A poorly described neurocutaneous disorder characterized by ichthyosis, mental retardation with seizures, short stature, retinitis pigmentosa, polyneuropathy, and secondary hypogonadism.

Synonyms

Dwarfism-Ichthyosiform Erythroderma-Mental Deficiency Syndrome; Ichthyosis and Male Hypogonadism Syndrome.

History

First described in 1927 by Einar Rud, a Danish physician.

Genetic inheritance

Autosomal recessive or X-Linked (unclear).

Incidence

About 30 cases have been described with a ratio female: male of 1:2. Controversies exist about whether Rud Syndrome is a distinct entity.

Pathophysiology

Unknown; however, defects in the steroid sulfatase and the Kallmann loci on the X chromosome have been identified.

Diagnosis

Congenital or neonatal ichthyosis of the skin. The presence of poorly developed secondary sexual characteristics, associated with mental retardation and polyneuropathy completes the clinical presentation.

Clinical aspects

Features can involve skin (ichthyosis, acanthosis nigricans, and alopecia), skeleton (short stature, arachnodactyly, hypoplastic or absent teeth, and structural abnormalities of the hands and the feet), CNS (seizures, anosmia, and hypertrophic polyneuropathy), and genitourinary (hypogonadism, primary or hypogonadotrophic in origin). Cerebral atrophy may be seen, and in some cases, is associated with steroid sulfatase deficiency. Hyperchromic macrocytic anemia and low pituitary gonadotropic hormones are frequent.

Precautions before anesthesia

It is very important to check the level of anemia. During the very exudative and inflammatory phase of ichthyosis, the patient’s heat and water losses may be considerable. Evaluate for significant intravascular hypovolemia. Evaluate neurological function (clinical, EEG, CT).

Anesthetic considerations

Particular attention should be given to proper preoperative padding and protection against heat loss. Hydration is also very important. According to the degree of anemia and the surgical procedure involved, availability of blood cross-matched is essential. The anemia should be corrected.

Pharmacological implications

Consider interaction between antiepileptic treatment and anesthetic drugs.

Other condition to be considered

• ☞Ichthyosis Vulgaris: Characterized by fine grayish scales on the trunk and the face of extension of the limbs with accentuation of the palmar creases appearing after a few months. Sometimes associated with eczema but no itching. It improves in summer.

References