Ruzicka Goerz Anton syndrome
| Ruzicka Goerz Anton syndrome | |
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| Patient with Ichthyosis |
Ruzicka Goerz Anton syndrome is a rare genetic disease described by Ruzicka et al. in 1981. It is characterized by icthyosis (rough, scaly skin), deafness, intellectual disability, and skeletal anomalies.[1][2]
It is also known as "Ichthyosis deafness intellectual disability skeletal anomalies".[3]
Symptoms
[edit]The primary symptoms of Ruzicka Goerz Anton syndrome include ichthyosis, deafness, oligophrenia, and skeletal deformities.[1]
Diagnosis
[edit]![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (August 2017) |
Treatment
[edit]Therapy with Ro 10-9359, a retinoid derivative, results in improvement of the ichthyosis portion of the syndrome.[4][5]
History
[edit]In 1981, a case was studied by Ruzicka et al. of a 15-year-old girl. The patient had ichthyosis congenita as well as deafness and retarded mental development. Further studies showed several skeletal deformities including brachydactyly, clinodactyly, and extra ribs. One year earlier, the patient had developed thyroid carcinoma, but whether or not this is due to the syndrome is unknown. The patient was treated with an oral retinoid, which greatly improved the patient's ichthyosis.[4]
See also
[edit]References
[edit]- ^ a b "Ruzicka Goerz Anton syndrome". Check Orphan. Retrieved 2011-09-02.
- ^ "Ruzicka-Goerz-Anton syndrome" (in Finnish). Mental Retardation Service Database. Archived from the original on 2012-09-13. Retrieved 2011-09-01.
- ^ "Ruzicka Goerz Anton syndrome". National Library of Medicine. 2010-08-25. Retrieved 2011-09-02.
- ^ a b Ruzicka T, Goerz G, Anton-Lamprecht I (1981). "Syndrome of ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and carcinoma of the thyroid". Dermatologica. 162 (2): 124–36. doi:10.1159/000250259. PMID 7250456.
- ^ Tamayo, L.; Ruiz-Maldonado, R. (1980). "Oral retinoid (Ro 10-9359) in children with lamellar ichthyosis, epidermolytic hyperkeratosis and symmetrical progressive erythrokeratoderma". Dermatologica. 161 (5): 305–314. doi:10.1159/000250382. PMID 6449393.
External links
[edit]- Ruzicka Goerz Anton syndrome at the Genetic and Rare Diseases Information Center