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]
N.B.: Controversies exist about whether Rud Syndrome is a distinct entity.
X-Linked (continuous gene syndrome) or
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
Consider interaction between
antiepileptic treatment and anesthetic drugs.
Larbrisseau A, Carpenter S: Rud syndrome: Congenital ichthyosis,
hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic
polyneuropathy. Neuropediatrics 13(2):95, 1982.
Munke M, Kruse K, Goos M, et al: Genetic heterogeneity of the ichthyosis,
hypogonadism, mental retardation, and epilepsy syndrome: Clinical and
biochemical investigations on two patients with Rud syndrome and review of
the literature. Eur J Pediatr
Stoll C, Eyer D: A syndrome of congenital ichthyosis, hypogonadism, small
stature, facial dysmorphism, scoliosis and myogenic dystrophy. Ann Genet 42(1):45,