Rud Syndrome: Differential Diagnoses & Workup

References

1. 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].

2. 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].

3. Larbrisseau A, Carpenter S. Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy. Neuropediatrics. May 1982;13(2):95-8. [Medline].

4. Maldonado RR, Tamayo L, Carnevale A. Neuroichthyosis with hypogonadism (Rud's syndrome). Int J Dermatol. Jun 1975;14(5):347-52. [Medline].

5. 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].

6. 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].

7. 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].

8. Sybert VP. Ichthyosis with hypogonadism. In: Genetic Skin Disorders. ed. New York, NY: Oxford University Press; 1997:114-5.

9. Tercedor J, García A. [Keratotic neurocutaneous syndromes]. Rev Neurol. Sep 1997;25 Suppl 3:S238-42. [Medline].

10. 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

Contributor Information and Disclosures

Author

Suguru Imaeda, MD, Chief of Dermatology, Yale University Health Services; Chief of Dermatology, West Haven Veterans Affairs Medical Center; Assistant Professor, Department of Dermatology, Yale University School of Medicine
Suguru Imaeda, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Connecticut State Medical Society, Sigma Xi, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Mark A Crowe, MD, Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine
Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other