This is a follow-up report on a boy with
phacomatosis pigmentokeratotica. At the age of 10 years he had, in addition to a sebaceous
nevus and a speckled lentiginous
nevus, multiple lesions of a
collagen nevus localized on the chin and in the lumbar area. On the left shoulder, a small telangiectatic spot was present within the area of the speckled lentiginous
nevus. Moreover, hemiatrophy of the left-hand side of the body and
hyperhidrosis of the left lumbar area were noted. At the age of 16, the lesions of his
collagen nevus had considerably enlarged and showed an arrangement along Blaschko lines. Additional pinhead-sized vascular lesions were noted, with preponderance within the area of the speckled lentiginous
nevus in the left scapular region and on his left leg. Moreover, the boy had developed severe arterial
hypertension since the age of 13. Angiographic examination showed an
aortic stenosis that reached from the aortic arch down to the origin of the renal arteries, necessitating a surgical intervention. From this follow-up report we conclude that
phacomatosis pigmentokeratotica may be associated with other cutaneous abnormalities such as linear
connective tissue nevus of the
collagen type and multiple pinhead-sized
angioma-like lesions superimposed on the speckled lentiginous
nevus. The associated defects of the large vessels may belong to the component of
Schimmelpenning syndrome representing one "half" of
phacomatosis pigmentokeratotica, rather than being part of the speckled lentiginous syndrome that forms the other "half" of this twin-spot phenotype.