Mucocutaneous changes in tuberous sclerosis complex: a clinical profile of 27 Indian patients.

BACKGROUND

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease resulting in a wide array of clinical manifestations, primarily affecting the skin and central nervous system. Mucocutaneous features play a very important role in the recognition of this syndrome.

AIMS

To review the prevalence and patterns of cutaneous manifestations in tuberous sclerosis, in a group of patients from eastern India.

METHODS

Observational clinical study on twenty-seven consecutive patients of tuberous sclerosis collected during a period of four years.

RESULTS

Most were between 10-20 years of age; the male to female ratio was 2:1. Family history was found in two-thirds. The classical triad of tuberous sclerosis was present in only nine (33.3%) patients. Adenoma sebaceum was the most common cutaneous feature (100%), followed by hypomelanotic macules (92.6%), connective tissue nevi (66.6%), and Koenen's tumors (33.3%). Oral mucosal fibromas were seen in six (22.22%) patients. Fibromatous plaque over forehead and scalp was seen in three patients. Limitation of the study was small size of study sample.

CONCLUSION

Prominent mucocutaneous changes are extremely common manifestation of TSC, which may provide crucial diagnostic clues for primary care physicians.