Dermatologic and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements

Abstract

Skin and dental findings comprise 4 of 11 major features and 3 of 6 minor features in the diagnostic criteria. A definite diagnosis of TSC is defined as the presence of at least 2 major features or 1 major and 2 or more minor features; in addition, a pathological mutation in TSC1 or TSC2 is diagnostic. Skin and oral examinations should be performed annually and every 3 to 6 months, respectively. Intervention may be indicated for TSC skin or oral lesions that are bleeding, symptomatic, disfiguring, or negatively affecting function. Options presented include surgical excision, laser(s), or use of a mammalian target of rapamycin inhibitor.

Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role

“…7 13 In patients with growing SEGA, angiomyolipoma or LAM, treatment with systemic mTOR inhibitors, which address the underlying pathophysiology of the disease, might be indicated and is also likely to result in simultaneous improvement of skin lesions. [13][14][15][16] However, systemic mTOR inhibitors can contribute to surgical complications and delayed wound healing; [17][18][19] therefore, elective procedures (eg, cutaneous surgery, laser treatment) might best be avoided while on systemic therapy. In patients not receiving systemic treatment, topical mTOR inhibitors or surgical procedures may be indicated.…”

“…Erythematous lesions may respond well to pulsed-dye laser treatment, which may be enhanced by the addition of 5-aminolevulinic acid. 13 45 46 Additionally, use of ablative lasers can be helpful for fibrotic lesions, and surgical excision can be appropriate for large symptomatic lesions. 13 A range of surgical approaches has been used to treat facial angiofibromas, including dermabrasion, cryosurgery, curettage, shave excision and chemical peels.…”

“…13 45 46 Additionally, use of ablative lasers can be helpful for fibrotic lesions, and surgical excision can be appropriate for large symptomatic lesions. 13 A range of surgical approaches has been used to treat facial angiofibromas, including dermabrasion, cryosurgery, curettage, shave excision and chemical peels. 9 13 47 48 In patients with symptomatic or large periungual fibromas, the use of ablative lasers or surgical excision are reasonable options.…”

Tuberous Sclerosis with Severe Cutaneous Manifestation and Multiples Facial Angiofibromas

“…These macules frequently present within the first few years of life, tend to increase in number and size throughout life, but are less prominent in adults, as they become more pigmented, and may even disappear [5,7]. Therefore, in the present case was not observed hypochromic macules, probably because of the patient being adult.…”

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

“…Facial angiofibromas are also described in multiple endocrine neoplasia 1 and Birt-Hogg-Dubé syndrome but are less prominent features. Fibrous plaques are common and are usually unilateral forehead lesions but can occur in other areas of the face and scalp [16,19]. Multiple 1-2 mm flesh coloured mucosal fibromas occur on the oral mucosa particularly the gingivae [20].…”