Two Unusual Neurocutaneous Disorders With Facial Cutaneous Signs

Skeletal involvement and follow-up in linear nevus sebaceous syndrome

“…Thoracolumbar dextroscoliosis, left coxa valga, and high-arched palate have been mentioned in a 21-month-old boy by Solomon et al [2]. Skeletal changes due to vitamin D-resistent osteomalacia secondary to renal tubular insufficiency have been described with associated lytic defects of the eighth, ninth and tenth ribs, and malformations of the clavicles by Sugarman and Reed [3].…”

“…Radiographic findings of the peripheral skeletal system were described in only few cases [2,3]. We present a follow-up study of a patient with linear nevus sebaceous syndrome and uncommon radiographic features of the skeletal system.…”

Extensive Linear Epidermal Nevus Associated with Hemangiomas of Bones and Vitamin-D-Resistant Rickets

“…The experience of a missing hereditary trait of epidemial nevus without granular degeneration led to the theory of lethal genes surviving by mosaicism [10], According to this con cept, affected cells can only survive in combination with unaffected ones. Both the phenotypic expression and gross extension of epidermal nevi depend on the time of mutation during embryogenesis [10], Vitamin-D-resistant rickets is a rare disorder with sexlinked transmission exhibiting incomplete penetrance [11], This disorder has also been reported in some patients with ENS [9,[11][12][13][14][15][16][17] or epidermal nevi [7], yet without inheri tance. In these patients hypophosphatémie osteomalacia is likely to be induced by hemangiomas and other tumors, possibly producing a substance that entails a renal phos phate loss [9], Removal of such growths (e.g.…”

Phacomatosis Pigmentokeratotica

“…Cases of an association between sebaceous nevus, multiple melanocytic nevi, and vitamin Dresistant rickets have been reported. [16][17][18] Whether these cases represent a variant of phacomatosis pigmentokeratotica or a distinct syndrome remains unclear. …”