Encephalocraniocutaneous Lipomatosis: A New Case Report and Review of the Literature

Abstract

Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by lipomatous hamartomas ranging in size from a few millimeters to several centimeters and affecting the head. Ocular anomalies and a variable degree of mental retardation with or without convulsions are usually observed. This disorder should be distinguished from other mosaic neurocutaneous phenotypes such as Proteus syndrome, oculocerebrocutaneous syndrome, and nevus sebaceous syndrome. We report the clinicopathologic findings of a 4-year-old Brazilian girl affected by this syndrome and review the literature. To our best knowledge, this is the first documented case of encephalocraniocutaneous lipomatosis occurring sporadically in South America.

Encephalocraniocutaneous lipomatosis: a case with unilateral odontomas and review of the literature

“…This information would be of utmost importance for genetic counselling of the affected family. [2], [3], [4], [5] a,b , [7], [8] a,b , [9], [10] a,b , [12], [13], [15], [16], [17], [18], [19], [20], [21], [22], [23], [25], [26], [27] a,b , [28], [29], [30], [31], [33], [34] PC Facial papules 19/33 [2], [5] a , [7], [8] b , [10] a,b , [12], [13], [15], [19], [23], [25], [26], [27] a , [28], [29], [31], [34] PC Lipomatous mass on the face 13/33 [2], [5] a,b , [12], [17], [18], …”

“…In 1978, Fishman et al [10] reported two further cases with only mild mental retardation and intracranial vascular malformations in one of them. Meanwhile, 29 additional cases of ECCL have been described and the clinical spectrum has been broadened considerably [2,3,4,5,6,7,8,9,10,12,13,15,16,17,18,19,20,21,22,23,25,26,27,28,29,30,31,32,33,34]. The only sign all patients uniformly showed was a unilateral hairless fatty tissue naevus of the scalp for which the term naevus psiloliparus was recently proposed [14].…”

Encephalocraniocutaneous Lipomatosis

“…The serial imaging studies demonstrated the progression of the central nervous system (CNS) abnormalities. 16 Neurologic symptoms do not seem to be related to the extent of neuroradiologic abnormalities. The majority of patients had extremely extensive cerebral abnormalities with only minimal symptomatology.…”

Encephalocraniocutaneous lipomatosis (ECCL): Neuroradiological findings in three patients and a new association with fibrous dysplasia

“…Central nervous system (CNS) anomalies include intracranial and spinal lipomas, congenital abnormalities of the meninges, asymmetric cerebral atrophy, dilated ventricles or hydrocephalus, porencephalic cysts, cortical dysplasia, parenchymal calcifications, and intracranial vessel anomalies. They are frequently confined to the same body side as the unilateral skin lesions [Fishman et al, 1978;Miyao et al, 1984;Happle and Steijlen, 1993;Hennekam, 1994;Legius et al, 1995;Ciatti et al, 1998;Parazzini et al, 1999;Romiti et al, 1999;Sant'Anna et al, 1999;Amor et al, 2000;Nowaczyk et al, 2000;Brown et al, 2003;Hauber et al, 2003;Lasierra et al, 2003;Donaire et al, 2005;Torrelo et al, 2005;Zieli nska-Ka zmierska et al, 2005;Sofiatti et al, 2006;L opez Sousa et al, 2007;Valladares et al, 2007;Moog et al, 2007a;Koishi et al, 2008;Stieler et al, 2008].…”