Ghosh Sudip Kumar, Bandyopadhyay Debabrata, Chatterjee Gobinda, Ghosh Arghyaprasun, Sarkar Sharmila, Sarkar Somenath
Departments of Dermatology, Venereology and Leprosy, R.G.Kar Medical College, Kolkata, India.
Indian J Dermatol. 2009 Jul;54(3):255-7. doi: 10.4103/0019-5154.55636.
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.
To review the prevalence and patterns of cutaneous manifestations in tuberous sclerosis, in a group of patients from eastern India.
Observational clinical study on twenty-seven consecutive patients of tuberous sclerosis collected during a period of four years.
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.
Prominent mucocutaneous changes are extremely common manifestation of TSC, which may provide crucial diagnostic clues for primary care physicians.
结节性硬化症（TSC）是一种常染色体显性遗传的神经皮肤疾病，会导致多种临床表现，主要影响皮肤和中枢神经系统。皮肤黏膜特征在该综合征的识别中起着非常重要的作用。
回顾印度东部一组结节性硬化症患者皮肤表现的患病率及模式。
对连续四年收集的27例结节性硬化症患者进行观察性临床研究。
大多数患者年龄在10至20岁之间；男女比例为2:1。三分之二的患者有家族史。仅9例（33.3%）患者出现结节性硬化症的典型三联征。皮脂腺瘤是最常见的皮肤表现（100%），其次是色素减退斑（92.6%）、结缔组织痣（66.6%）和科恩瘤（33.3%）。6例（22.22%）患者出现口腔黏膜纤维瘤。3例患者在前额和头皮出现纤维瘤性斑块。本研究的局限性在于研究样本量小。
明显的皮肤黏膜改变是结节性硬化症极为常见的表现，可为基层医疗医生提供关键的诊断线索。
