Kozin V.M., Azad Al-Кhalil, Kozina Y.V.
Tuberous sclerosis: some cases of late diagnosis
Abstract.
The aim of this study was to investigate the characteristic features of clinical manifestations, course of tuberous sclerosis using as an example cases from our own practice revealed in two female patients (aged 32 and 38 years).
Tuberous sclerosis (Bourneville’s-Pringle’s disease) is a rare genetic condition characterized by skin, nervous system, internal organs, organs of vision, bone and neuroendocrine system lesions.
Two patients at the age of 32 and 38 years, respectively, who were observed by dermatologists because of rosacea and papillomatosis of nail walls have been presented.
Multiple facial and distal phalanges angiofibromas have been revealed in these patients, one of them has also single angiofibromas on the trunk and the scalp.
No hypopigmented spots, «shagreen» plaques on the integument have been found.
Both female patients suffer from epilepsy, and the patient G. (32 years old) from behavioral mental disorders as well.
The right kidney of the patient S. (38 years old) has been removed due to hamartomas and multiple angiomyolipomas have been revealed in her left kidney.
The presented 2 cases of late diagnosis of tuberous sclerosis are in many respects associated with the underestimation of the syndromic manifestations observed in tuberous sclerosis by dermatologists, cosmetologists and physicians of other specialities.
Key words: tuberous sclerosis, diagnosis, clinical cases.
References
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