In tuberous sclerosis, the earliest cutaneous sign is an ash leaf spot. These lesions are often present at birth and are usually multiple; however, detection may require Wood's lamp examination, especially in fair-skinned individuals. The pigment within them is reduced but not absent. The average size is 1–3 cm, and the common shapes are polygonal and lance-ovate. Examination of the patient for additional cutaneous signs such as multiple angiofibromas of the face (adenoma sebaceum), ungual and gingival fibromas, fibrous plaques of the forehead, and connective tissue nevi (shagreen patches) is recommended. It is important to remember that an ash. | Chapter 054. Skin Manifestations of Internal Disease Part 10 In tuberous sclerosis the earliest cutaneous sign is an ash leaf spot. These lesions are often present at birth and are usually multiple however detection may require Wood s lamp examination especially in fair-skinned individuals. The pigment within them is reduced but not absent. The average size is 1-3 cm and the common shapes are polygonal and lance-ovate. Examination of the patient for additional cutaneous signs such as multiple angiofibromas of the face adenoma sebaceum ungual and gingival fibromas fibrous plaques of the forehead and connective tissue nevi shagreen patches is recommended. It is important to remember that an ash leaf spot on the scalp will result in poliosis which is a circumscribed patch of gray-white hair. Internal manifestations include seizures mental retardation central nervous system CNS and retinal hamartomas renal angiomyolipomas and cardiac rhabdomyomas. The latter can be detected in up to 60 of children 18 years with tuberous sclerosis by echocardiography. Nevus depigmentosus is a stable well-circumscribed hypomelanosis that is present at birth. There is usually a single oval or rectangular lesion but occasionally the nevus has a segmental or whorled pattern also referred to as linear nevoid hypopigmentation . It is important to distinguish this more common entity from ash leaf spots of tuberous sclerosis especially when there are multiple lesions. In hypomelanosis of Ito swirls and streaks of hypopigmentation run parallel to one another in a pattern that resembles a marble cake. Lesions may progress or regress with time and in up to a third of patients associated abnormalities are found involving the musculoskeletal system asymmetry the CNS seizures and mental retardation and the eyes strabismus and hypertelorism . Chromosomal mosaicism has been detected in these patients lending support to the hypothesis that the pattern is the result of the migration of two clones of .
