Encephalocraniocutaneous lipomatosis and the Proteus syndrome: Distinct entities with overlapping manifestations

Abstract

We have studied three children with cutaneous (epidermal nevi), subcutaneous (lipomas, plantar skin thickening), vascular (hemangioma, lymphangioma), skeletal (osteoma, exostosis, localized hypertrophy), and neurological (hydrocephaly, lissencephaly, partial agenesis of the corpus callosum) developmental defects associated with the Proteus syndrome and related hamartoneoplastic conditions. We compared our findings in these three patients with those of 50 others with Proteus syndrome and nine with encephalocraniocutaneous lipomatosis (ECCL) reported in the literature. We found that Proteus syndrome and ECCL have distinct identities even though some clinical manifestations are shared by both and a few patients have manifestations of both conditions.

Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism

“…We support the suggestion of Wiedemann and Burgio 119861 that ECCL represents a more localized form of Proteus syndrome. Further comparison of other cases [Fishman et al, 1978;Haberland and Perou, 1970;McCall et al, 1992;Schlack and Skopnik, 19851 demonstrates a con- showing diffuse su~utaneous areas in frontal and orbital regions consistent with lipomatous tissue. tinuum, not 2 distinct entities that share common manifestations.…”

“…A number of patients have been reported [Al-Mefty et al, 1987;Bamforth et al, 1988;1989;Bitoun et al, 1982;Fishman et al, 1978;Haberland and Perou, 1970;McCall et al, 1992;Sanchez et al, 1981;Schlack and Skopnik, 1985;ZuntoBa, 19831 and, to date, all cases have been sporadic. Because some patients have had hyperostoses of the skull, cutaneous lipomas outside the skull, and visceral lipomatosis, Wiedemann and Burgio C19861 suggested that ECCL might represent a more localized form of Proteus syndrome.…”

Proteus syndrome: An update

“…Wiedemann and Burgio [1986] suggested that encephalocraniocutaneous lipomatosis (ECCL) might represent a more localized form of Proteus syndrome. Comparison of individual cases of ECCL [Al-Mefty et al, 1987;McCall et al, 1992;Rizzo et al, 1993] shows a continuum rather than two distinct entities. For example, in ECCL, cutaneous, craniofacial, and meningeal lipomas occur, but cutaneous lipomas below the head and neck and visceral involvement have been found in some cases.…”

Proteus syndrome: Clinical evidence for somatic mosaicism and selective review

“…Wiedemann and Burgio [ 19861 were the first to realize this when they suggested that encephalocraniocutaneous lipomatosis (ECCL) might possibly represent a more localized form of Proteus syndrome. Further comparison of individual cases of the former [Gorlin et al, 1990;McCall et al, 1992; Al-Mefty et al, 19871 demonstrates a continuum, not 2 distinct entities that share common manifestations. For example, in ECCL, cutaneous craniofacial and meningeal lipomatosis, usually unilateral, occurs, but cutaneous lipomas below the head and neck and visceral involvement have been found in some cases.…”