Rud Syndrome

A syndrome characterized by ichthyosis, mental retardation with seizures, short stature, retinitis pigmentosa, polyneuropathy, and hypogonadism.

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

Belongs to the neuroichthyosis group with a difficult differential diagnosis among all medical conditions involved: (CHIME [Coloboma, Heart Defects, Ichthyosiform Dermatosis, Mental Retardation, Ear Defects] Syndrome, Refsum Disease, Sjögren-Larsson Syndrome, Netherton Syndrome, KID [Keratitis, Ichthyosis, and Deafness] Syndrome, and IBIDS [Ichthyosis, Brittle Hair, Impaired Intelligence, Decreased Fertility, and Short Stature] Syndrome).

N.B.: Controversies exist about whether Rud Syndrome is a distinct entity.

X-Linked (continuous gene syndrome) or recessive.

About 30 cases have been described with a ratio female:male of 1:2.

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

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.

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.

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).

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, proper blood cross-matched is essential. The anemia should be corrected.

Consider interaction between antiepileptic treatment and anesthetic drugs.