Tuberous sclerosis complex

Abstract

Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner. The dermatologist plays an essential role in the history of the disease, since skin manifestations represent the most prevalent clinical features, enabling early diagnosis and intervention in its natural course. This article aims to inform the scientific community about advances made in the study of genetics and molecular biology. Recent findings regarding stimulation of tumor growth have been changing the history of this condition, making therapeutic trials with topical and systemic drugs possible. Knowledge of these topics enables better management of the patients affected, since tissue replacement by tumors can result in significant morbidity and mortality. Keywords: Dermatology; Diagnosis; Neurology; Sirolimus; Tuberous sclerosis Resumo:A Esclerose Tuberosa, também conhecida como Epilóia ou Facomatose de Pringle-Bourneville, é uma síndrome neurocutânea de caráter autossômico dominante com expressões clínicas variadas. É uma doença multissistêmica que pode cursar com hamartomas em diversos órgãos, de forma imprevisível. O dermatologista tem papel essencial na história da doença, uma vez que as afecções cutâneas representam as mais prevalentes apresentações clínicas, possibilitando assim o diagnóstico precoce da sín-drome e intervenção na sua evolução natural. O presente artigo tem o objetivo de atualizar a comunidade científica sobre avanços alcançados no estudo genético e biologia molecular. Recentes descobertas sobre o estímulo do crescimento tumoral vêm mudando a evolução desta patologia, possibilitando ensaios terapêuticos com drogas tópicas e sistêmicas. O conhecimento destes aspectos possibilita melhor condução dos pacientes acometidos, dado que a substituição tumoral dos diversos tecidos pode resultar em relevante morbidade e mortalidade.

Tuberous Sclerosis with Severe Cutaneous Manifestation and Multiples Facial Angiofibromas

“…These macules frequently present within the first few years of life, tend to increase in number and size throughout life, but are less prominent in adults, as they become more pigmented, and may even disappear [5,7]. Therefore, in the present case was not observed hypochromic macules, probably because of the patient being adult.…”

“…It most often affects the skin and central nervous system [5]. In the present study, the patient had severe neurological impairment and unable to communicate by oral language.…”

“…In some cases, there is only a longitudinal depression in the nail, corresponding to the fibroma still in the nail matrix or to the remnant of the tumor, after being excised by the patient himself [5]. The patient here described presented only longitudinal depressions in the fingernails.…”

“…They are popular lesions that primarily affect the nasolabial folds, cheeks and chin, bilaterally and symmetrically or unilaterally and mosaic [5]. The patient here described presented multiple lesions bilaterally around the nasolabial region affecting almost the entire face.…”

“…They are present in approximately 20-54 % of patients and are rare during infancy, tending to increase in size and number with age [1,5,6]. In this case, the patient had large plaques with lumpy surfaces on the right side of the lower back, causing great discomfort.…”