Abstract and Introduction Clinical Features of Tuberous Sclerosis Complex Genetics ... are not pathognomonic for either condition. The shagreen patch (see Figure 1) is most commonly found on ...

In 1975 the proband (III-5) (Fig. 1) presented at the age of 8 years with a shagreen patch, toenail fibroma, and facial angiofibromas. The proband's father (II-2) also exhibited signs of TSC ...

The complex process of human brain development plays an overlooked role in the manifestation of tuberous sclerosis, which leads to multiple noncancerous growths, previously thought to be solely due to ...

These skin findings, together with pulmonary lymphangioleiomyomatosis, pointed to the diagnosis of tuberous sclerosis complex ... retinal phakomas, shagreen patches (connective tissue nevus ...

Tuberous sclerosis is a broad condition involving benign tumors that may present in various parts of the body. As a result, the symptoms of this condition can vary greatly, thus making it ...

Physicians and patients can also gain useful information from the Tuberous Sclerosis Alliance Web site (www.tsalliance.org). In patients with lymphangiomyomatosis, annual pulmonary-function ...