eMedicine Specialties > Dermatology > Pediatric Diseases
Rud Syndrome: Treatment & Medication
Updated: Nov 30, 2007
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
Treatment
Medical Care
- Ichthyosis and acanthosis nigricans can be treated with alpha hydroxy acids (eg, ammonium lactate, glycolic acid) and urea to improve cosmetic appearance.
- Epileptic seizure treatment is the most difficult aspect of therapy.
Surgical Care
Surgical therapy of associated ophthalmologic problems may be indicated.
Consultations
- Consultation with a neurologist is needed for seizure management.
- Consultation with a developmental specialist is needed for mental retardation.
- Consultation with an endocrinologist is needed for possible pituitary hypogonadism.
- Consultation with an ophthalmologist is needed for possible retinitis pigmentosa, strabismus, ptosis, blepharospasm, cataract, and nystagmus.
- Consultation with a genetic counselor may be obtained as appropriate.
Medication
The goals of pharmacotherapy are to reduce morbidity and to prevent complications.
Keratolytics
These agents promote shedding of hyperkeratotic skin. They are modifiers of keratinocyte adhesion, differentiation, and proliferation.
Ammonium lactate lotion (AmLactin, Lac-Hydrin)
Contains lactic acid, an alpha hydroxy acid with keratolytic action. Comes in 12% and 5% strengths. The 12% concentration may cause irritation on the face. Causes disadhesion of corneocytes.
Adult
Apply topically to lesion or liberally to all affected areas bid for xerosis or other dry skin conditions
Pediatric
Apply as in adults
None reported
Documented hypersensitivity
Pregnancy
B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals
Precautions
May sting or cause pain if applied on broken skin; the 12% concentration may cause irritation with erythema, burning, and peeling if applied to the face
Glycolic acid
Alpha hydroxy acid with keratolytic action.
Adult
Apply to affected areas prn
Pediatric
Apply as in adults
None reported
Documented hypersensitivity
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
May sting or cause pain if applied on broken skin; for external use only
Urea (Ureaphil, Ureacin-40, Aquacare)
Promotes hydration and removal of excess keratin in conditions of hyperkeratosis. Available in 10-40% concentrations.
Adult
Apply to affected areas prn
Pediatric
Apply as in adults
May decrease effects of lithium
Documented hypersensitivity; severely impaired renal function; active intracranial bleeding; marked dehydration; frank liver failure; infusion into lower extremity veins in elderly patients may cause phlebitis and thrombosis
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Do not use if intracranial bleeding is present, unless prior to surgical intervention to control hemorrhage (reduction of brain edema by urea may result in reactivation of intracranial bleeding); may increase risk of venous thrombosis and hemoglobinuria in patients with hypothermia; caution in renal impairment
More on Rud Syndrome |
| Overview: Rud Syndrome |
| Differential Diagnoses & Workup: Rud Syndrome |
 Treatment & Medication: Rud Syndrome |
| Follow-up: Rud Syndrome |
| References |
| « Previous Page | Next Page » |
References
Andria G, Ballabio A, Parenti G, Di Maio S, Piccirillo A. Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'. J Inherit Metab Dis. 1984;7 Suppl 2:159-60. [Medline].
Kaufman LM. A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram. Ophthalmic Genet. Jun 1998;19(2):69-79. [Medline].
Larbrisseau A, Carpenter S. Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy. Neuropediatrics. May 1982;13(2):95-8. [Medline].
Maldonado RR, Tamayo L, Carnevale A. Neuroichthyosis with hypogonadism (Rud's syndrome). Int J Dermatol. Jun 1975;14(5):347-52. [Medline].
Marxmiller J, Trenkle I, Ashwal S. Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism. Dev Med Child Neurol. Jun 1985;27(3):335-43. [Medline].
Münke M, Kruse K, Goos M, Ropers HH, Tolksdorf M. 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. Oct 1983;141(1):8-13. [Medline].
Stoll C, Eyer D. A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy. Ann Genet. 1999;42(1):45-50. [Medline].
Sybert VP. Ichthyosis with hypogonadism. In: Genetic Skin Disorders. ed. New York, NY: Oxford University Press; 1997:114-5.
Tercedor J, García A. [Keratotic neurocutaneous syndromes]. Rev Neurol. Sep 1997;25 Suppl 3:S238-42. [Medline].
Kuniba H, Egashira M, Motomura H, Motomura K, Kondoh T. [Rud syndrome]. Nippon Rinsho. Sep 28 2006;Suppl 3:485-7. [Medline].
Further Reading
Keywords
ichthyosis with hypogonadism, neuroichthyosis, ichthyosis, hypogonadism, mental retardation, epilepsy, dwarfism
