Epidermal naevus and segmental hypermelanosis associated with an intraspinal mass: overlap between different mosaic neuroectodermal syndromes

Abstract

we recommend evaluation of all patients with large epidermal naevi, especially in the head and neck region, for the presence of central nervous system abnormalities or neoplasms.

Mandibular osteoma in the encephalocraniocutaneous lipomatosis

“…ECCL shows considerable overlap with the Proteus Syndrome (Legius et al, 1995). El-Shanti et al (1992) and Zakrzewski et al (2001) have shown that ECCL, Proteus syndrome, and the epidermal naevus syndrome represent a phenotypic continuum, which in turn suggests a common pathogenesis. Legius et al (1995), reported that, at least in some patients, the ECCL phenotype might result from a mutation in the neurofibromatosis type 1 (NF1) gene, alone or in combination with another genetic or nongenetic event, whereas in other subjects with ECCL the aetiology might be different.…”

Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum

“…Further, we had considered epidermal nevus syndrome (ENS) as a differential diagnosis. However, the severity and the localization of central nervous system anomalies in ENS [Zakrzewski et al, ; Booth and Rollins, ] differ from the lesions observed in this patient. Finally, the presence in this patient of aplasia cutis congenita and epibulbar dermoids, which are the consistent findings in OES, is much more supportive of a diagnosis of OES than of the overlapping syndromes.…”

“…They often follow the pattern on the skin known as Blaschko's lines. Epidermal nevus may be seen as an isolated lesion on the skin or in association with cerebral and other anomalies, a clinical entity designated as epidermal nevus syndrome [Solomon et al, ; Mall et al, ; Zakrzewski et al, ; Booth and Rollins, ]. The patient described here also had a hyperkeratotic papule, which was reported previously in only one patient [Gardner and Viljoen, ], and hypopigmented areas, which were not observed previously in OES.…”