Encephalocraniocutaneous lipomatosis

Encephalocraniocutaneous lipomatosis

“…The first case was reported in 1970 by Haberland and Perou 1. They also coined the term encephalocraniocutaneous lipomatosis, which refers to the major features and was generally adopted despite the intervening name of Fishman’s syndrome after the publication by Fishman et al 2 in 1978. The majority of cases have been reported with the term encephalocraniocutaneous lipomatosis, although publications using other terms from the ophthalmological literature, as well as terms resulting from misdiagnoses, are known.…”

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

“…In most ECCL cases, the choristomata clinically resembled lipodermoids as in our patient. In a few patients, mixed or complex choristomata were described consisting of tissues derived from different embryonal layers [10,17].…”

“…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

“…Two additional cases with similar cutaneous, ophthalmologic, and cerebral malformations, but with milder mental retardation, were subsequently reported by others. 2 One of these patients had a neurofibroma and multiple connective tissue nevi. In 1981, manifestations of the syndrome were further broadened to include the female sex and bilateral cutaneous lipomas on the face and scalp.…”