Leopard syndrome medical therapy
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]
Overview
Medical management depend on the symptoms present. Drug therapy for cardiac abnormalities,endocrine, and dermatological issues is recommended.
Medical Therapy
Medical management is routine care as symptoms present
- For those with endocrine issues (low levels of thyrotopin [a pituitary hormone responsible for regulating thyroid hormones], follicle stimulating hormone) drug therapy is recommended.
- Retinoids decrease abnormal hyperproliferative keratinocytes and may reduce potential for malignant degeneration. So an alternative treatment with tretinoin or hydroquinone creams may help.
- Hydroquinone lightens hyperpigmented skin through inhibiting enzymatic oxidation of tyrosine and suppressing other melanocyte metabolic processes which will inhibit melanogenesis.
- Drug therapies for those with cardiac abnormalities, as those abnormalities become severe enough to warrant the use of these therapies, EKG's are mandatory prior to any surgical interventions, due to possible arrhythmia. patients with ventricular hypertrophy may follow familial Hypertrophic cardiomyopathy algorithms.[1]
- Genitourinary, musculoskeletal, neurological and orthodontic anomalies should be monitored and treated as for Noonan syndrome.[2]
- Treatment of hearing loss may include fitting with appropriate hearing aids, enrollment in an appropriate educational program for the hearing impaired, consideration for cochlear implantation, habilitation option for persons with profound deafness, recognition that the management and treatment of severe-to-profound congenital deafness involves primarily the social welfare and educational systems rather than the medical care system.[3]
Any developmental disability should be managed by early intervention programs and individualized education strategies.
References
- ↑ Elliott P, McKenna WJ (2004). "Hypertrophic cardiomyopathy". Lancet. 363 (9424): 1881–91. doi:10.1016/S0140-6736(04)16358-7. PMID 15183628.
- ↑ van der Burgt I (2007). "Noonan syndrome". Orphanet J Rare Dis. 2: 4. doi:10.1186/1750-1172-2-4. PMC 1781428. PMID 17222357.
- ↑ Smith RJ, Bale JF, White KR (2005). "Sensorineural hearing loss in children". Lancet. 365 (9462): 879–90. doi:10.1016/S0140-6736(05)71047-3. PMID 15752533.