Neurofibromatosis

Piebaldism And Poliosis

Figure 1.158. In partial albinism (poliosis circumscripta; piebaldism) there are hypopigmented areas of the scalp. Depigmented areas may also occur on the torso or the extremities with the exception of the back, hands, and feet. Decreased hair pigmentation (poliosis) is most often seen close to the anterior hairline either centrally or to one side of the midline. This condition (piebaldism) is seen in normal individuals and may follow an autosomal dominant inheritance.

Figure 1.157. Mother and infant with tyrosinase-positive oculocutaneous albinism. Melanocytes or melanosomes are present in the affected skin and hair in normal numbers but, although they are tyrosine positive, fail to produce normal amounts of melanin in the areas of leukoderma or poliosis. There are many variants of oculocutaneous albinism but tyrosinase-posi-tive or tyrosinase-negative are the most common. These are so designated on the basis of pigment production in plucked hair incubated in tyrosine.

Figure 1.158. In partial albinism (poliosis circumscripta; piebaldism) there are hypopigmented areas of the scalp. Depigmented areas may also occur on the torso or the extremities with the exception of the back, hands, and feet. Decreased hair pigmentation (poliosis) is most often seen close to the anterior hairline either centrally or to one side of the midline. This condition (piebaldism) is seen in normal individuals and may follow an autosomal dominant inheritance.

Figure 1.159. In Waardenburg's syndrome, an autosomal dominant condition, a white forelock is characteristic. It is a form of partial albinism (poliosis). In addition to the white forelock, there is dystopia canthorum (lateral displacement of the medial canthi and lacrimal puncta of the lower eyelids), synophrys, heterochromia iridis, broad nasal root, and congenital deafness. If the inner canthal distance divided by the interpupillary distance is greater than 0.6, this lateral displacement of the inner canthi may help confirm the diagnosis.

Figure 1.160. Another example of Waardenburg's syndrome. Note the white forelock and the dystopia canthorum.

Figure 1.161. Cafe-au-lait spots, present in this twin infant with neurofibromatosis, are skin lesions caused by hyperpigmenta-tion of the basal epidermal cells. They may be seen in healthy children, as well as those with neurofibromatosis, tuberous sclerosis, and the Russell-Silver syndrome. They range in size from a few millimeters to several centimeters in diameter and have a color slightly darker than that of the surrounding skin. The most common type have edges that are fairly smooth and quite clearly demarcated ("coast of California"). A second type of cafe-au-lait spot has a much more jagged, irregular border ("coast of Maine") and is usually larger and solitary. Such lesions are seen in McCune-Albright polyostotic dysplasia.

Neurofibromatosis Caf Lait Images

Figure 1.162. In this infant with neurofibromatosis note the multiple café-au-lait spots. About 5% of white infants and almost 15% of black infants have one such spot. Café-au-lait spots are somewhat darker in color in black infants than in caucasian infants. Neurofibromatosis is an autosomal dominant condition in which the presence of 5 or more café-au-lait spots greater than 0.5 cm in diameter in young infants is diagnostic of the disorder.

Figure 1.162. In this infant with neurofibromatosis note the multiple café-au-lait spots. About 5% of white infants and almost 15% of black infants have one such spot. Café-au-lait spots are somewhat darker in color in black infants than in caucasian infants. Neurofibromatosis is an autosomal dominant condition in which the presence of 5 or more café-au-lait spots greater than 0.5 cm in diameter in young infants is diagnostic of the disorder.

Infant Heterochromia

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