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Tuberous Sclerosis Complex Dermatologic Manifestations

Tuberous Sclerosis Complex (TSC): Dermatologic Manifestations De novo mutation of tumour suppressor genes (TSC1 (on chromosome 9q34) or TSC2 (on 16p13.3)) Encode hamartin & tuberin proteins that regulate cell division & growth Hamartin & tuberin proteins are mediated by mammalian target of rapamycin (mTOR) Mutations ↑ mTOR signalling Irregular, dysfunctional cell proliferation - often affecting embryonic cells Author: Jasmine Gill Reviewers: Maharshi Gandhi Elise Hansen Sunawer Aujla Shahab Marzoughi Jodi Hardin* * MD at time of publication Dysfunctional melanocytes that have an impaired ability to produce & transfer melanin Dysregulated melanocyte migration during embryogenesis Overgrowth of normal skin components (hamartomas) Clonal patches of melanocytes produce increased pigment Café-au-lait macules Facial angiofibromas and fibrous cephalic plaque (red, pink papules) Clonal patches of melanocytes are unable to produce sufficient pigment and/or there is impaired production and distribution of melanin Hypopigmented macules Affects dermal cells Shagreen patch (cobblestone, yellow plaques often over lumbosacral area) Affects epidermal cells Molluscum pendulum (soft papules) Affects epidermal & dermal cells Ungual fibromas (flesh coloured or red papules around nails) Insufficient melanin production by melanocytes leads to insufficient pigmentation Ash leaf spot (rounded at 1 end and tapered at the other) Overgrowth of dermis causes fibrous papules Guttate/ ”confetti” macules Epidermal layer Melanocytes in basal layer Fibroma expands and creates localized pressure and mass effect Distortion of nail bed Irregular, overgrowth of epidermal &/or dermal cells Facial disfigurement Dermal layer Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published Oct 4, 2024 on www.thecalgaryguide.com