Tuberous sclerosis in Infant/Neonate
A majority of TSC patients will have epilepsy, and more than half will have developmental delays collectively termed TSC-associated neuropsychiatric disorders (TAND). Brain lesions including glioneuronal hamartomas and periventricular giant cell astrocytomas are commonly identified in patients with TAND.
Establishing the diagnosis of TS can be challenging due to the wide variation in severity and age-related penetrance of clinical manifestations. In some cases, diagnosis may be delayed until adolescence or adulthood.
Q85.1 – Tuberous sclerosis
7199000 – Tuberous sclerosis
Differential Diagnosis & Pitfalls
- Hypomelanotic macules must be distinguished from nevus depigmentosus, halo nevi, pigmentary mosaicism (hypomelanosis of Ito), nevus anemicus, piebaldism, and vitiligo.
- Other diagnoses that may be confused with angiofibromas include keratosis pilaris and neonatal or infantile acne.
- Hemangiomas of early infancy may look similar to the forehead plaque or shagreen patch in infants. Rapid growth of the hemangioma over the ensuing days to weeks will distinguish between these lesions. Diverse other lesions may appear very similar to the shagreen patch, including the dermal nodules of Hunter syndrome, smooth muscle hamartomas, leiomyomas, plexiform neurofibromas, and lipomas. A biopsy may be necessary to distinguish between these entities when the rest of the clinical picture is uncertain.
- Multiple endocrine neoplasia type 1 (MEN1) shares many cutaneous lesions with TSC (angiofibromas, collagenomas, confetti-like hypopigmented macules, and gingival papules). Close follow-up and strict adherence to the established diagnostic criteria for TSC should allow one to distinguish between these entities.