61 - Neurofibromatose e Esclerrose Tuberosa

Question 1

Manifestação pigmentar mais específica de ET?

Answer 1

Although guttate hipopigmented macules occur in <5% of affected infants, they are probably the most specific pigmentary manifestation of TSC102

Question 2

Manifestações CUTÂNEAS majores de ET?

Answer 2

• Facial angiofibromas (~80%) and fibrous plaque of the forehead (~20%)
• Hypomelanotic macules (90–100%) – polygonal; lance-ovate (ash leaf); confetti
• Shagreen patch (40–50%)
• Ungual fibromas (30–60%)
• Molluscum pendulum
• Café-au-lait macules

Question 3

Manifestações OCULARES majores de ET?

Answer 3

• Retinal hamartomas (~40%)
• Achromatic retinal patches (~40%)
• Retinal astrocytoma

Question 4

Manifestações ESQUELÉTICAS majores de ET?

Answer 4

•Cystic areas of bone rarefaction, especially phalanges

Question 5

Manifestações DENTÁRIAS majores de ET?

Answer 5

• Pitted enamel (>90%)

* Gingival fibromas (up to 70%)

Question 6

Manifestações PULMONAR major de ET?

Answer 6

•Lymphangioleiomyomatosis (≥30–40% of women)

Question 7

Manifestações RENAIS majores de ET?

Answer 7

• Multiple bilateral angiomyolipomas (75–90%)
• Cysts
• Carcinoma

Question 8

Manifestações ENDÓCRINAS majores de ET?

Answer 8

• Precocious puberty

* Hypothyroidism

Question 9

Manifestações NEUROLÓGICAS majores de ET?

Answer 9

• Cortical tubers (>90%)
• Subependymal nodules* (>80%)
• Subependymal giant cell astrocytoma† (5–15%)
• Seizures (70–95%), including infantile spasms (~60%)
• Intellectual impairment (>50%)

Question 10

Manifestações CARDIOVASCULARES majores de ET?

Answer 10

• Myocardial rhabdomyoma‡ (80% of infants)

* Wolff–Parkinson–White syndrome