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Systemic dermatology

Genetic diseases diagnostic challenge

Match each picture with the correct diagnosis: Mix and match: [table] : Tuberous sclerosis || Ash leaf hypopigmented macules are an early and permanent sign of tuberous sclerosis.
© R Suhonen:Tuberous sclerosis || Angiofibromas increase in number during childhood and adolescence. They can be satisfactorily destroyed by vascular laser or electrosurgery. : Neurofibromatosis || More than 6 café au lait macules are diagnostic of Type 1 neurofibromatosis. Note the associated and characteristic freckling. : Pseudoxanthoma elasticum || Skin coloured or slightly yellow papules increase in number in flexural sites as elastic tissue degenerates in early adult life. Similar changes affect the elastic tissue walls of internal blood vessels. : Neurofibromatosis || This patient has numerous cutaneous neurofibromas. These are soft, skin-coloured and sometimes pedunculated, papules and nodules. The largest have been excised. He is at significant risk of spinal tumours.