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Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
Nearly 50% of post-puberty individuals with tuberous sclerosis have KTs. [11] (Tuberous sclerosis is also associated with a second type of angiofibroma, adenoma sebaceum, also termed facial angiofibroma, in ~75% of cases. [14]) Individuals presenting with KTs that do not have tuberous sclerosis commonly present with a single lesion in a nail ...
Adenoma sebaceum presence represents one of the major diagnostic criteria to confirm the diagnosis of tuberous sclerosis. [5] When adenoma sebaceum presents with seizures and mental retardation (Vogt's triad), it indicates that cranial imaging is necessary, other differential diagnoses for this disorder include acne vulgaris, rhinophyma, and sebaceous hyperplasia.
These lesions present as multiple nodules or tumors under multiple finger and/or toe nails of individuals with tuberous sclerosis [4] or in one case the Birt-Hogg-Dube syndrome. [15] Periungual angiofibromas have also been reported to occur in individuals that do not have these genetic diseases. [16]
The term "adenoma sebaceum" is a misnomer for facial angiofibromas associated with tuberous sclerosis complex. [5] [a] [b] See also. Sebaceous carcinoma;
The presence of several should alert to seeking for other signs of tuberous sclerosis. [1] Usually no treatment is necessary. Treatments for cosmetic reasons include shave excision [2] and electrosurgery. [3] Following treatment, recurrence is rare. [1]
A case of tuberous sclerosis showing facial angiofibromas in characteristic butterfly pattern. Herbert L. Fred, MD and Hendrik A. van Dijk Symptoms and signs of tuberous sclerosis Tuberous sclerosis complex (TSC) is a multisystemic disorder due to autosomal dominant mutations in either TSC1 or TSC2 which results in the impaired inhibition of ...
The majority of reports are of random lesions, but there are some familial cases, indicating autosomal dominant transmission. [4] [5] Furthermore, connective tissue nevus can present as solitary lesions or be a component of systemic illnesses like tuberous sclerosis, which features shagreen's patches, another form of collagenoma, as an associated feature, or Buschke–Ollendorff syndrome ...