Tuberous sclerosis in Infant/Neonate
Diagnosis can be challenging due to the wide variation in severity and age-related penetrance of individual manifestations. In some cases, it is not diagnosed until adulthood.
Diagnostic criteria have been developed. Diagnosis can be made when 2 major OR 1 major and 2 or more minor features are observed. See Best Tests.
For more information on tuberous sclerosis 1, see OMIM.
For more information on tuberous sclerosis 2, see OMIM.
Q85.1 – Tuberous sclerosis
7199000 – Tuberous sclerosis
- 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 them.