Encephalocraniocutaneous lipomatosis: Neurologic manifestations

Journal of Child Neurology

Volumn 18, Issue 10, 2003, Pages 725-729

  Lasierra, Rafael ^a   Valencia, Ignacio ^b   Carapeto, Francisco J ^a   Ventura, Purificación ^a   Samper, M Pilar ^a   Rodríguez, Garardo ^a   Pérez González, José M ^a   Legido, Agustín ^b  

^a HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADIPOSE TISSUE; BRAIN; BRAIN VENTRICLE DILATATION; CALCIFICATION; CASE REPORT; CLINICAL FEATURE; ECTODERM; EYE; FEMALE; HUMAN; IDIOPATHIC DISEASE; LIPOMATOSIS; MENTAL DEFICIENCY; MESODERM; NEWBORN SCREENING; PHAKOMATOSIS; PONS ANGLE TUMOR; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SEIZURE; SKIN; SPINAL CORD TUMOR; SYMPTOMATOLOGY;

EID: 0242456115     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738030180100101     Document Type: Review

References (41)

1. Haberland C, Perou M: Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 1970;22:144-155.
2. Ahmed I, Tope WD, Young TL, et al: Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis. J Am Acad Dermatol 2002;47(Suppl):S196-S200.
3. Chittenden HB, Harman KE, Robinson F et al: A case of encephalocraniocutaneous lipomatosis. Br J Ophthalmol 2002;86:934-935.
4. Fitoz S, Atasoy C, Erden I, et al: Intracranial lipoma with extracranial extension through foramen ovale in a patient with encephalocraniocutaneous lipomatosis syndrome. Neuroradiology 2002;44. 175-178.
5. Cruz AA, Schirmbeck T, Pina-Neto JM, et al: Cicatricial upper eyelid retraction in encephalocraniocutaneous lipomatosis: A report of two cases and review of literature. Ophthal Plast Reconstr Surg 2002; 18:151-155.
6. Deda G, Caksen H, Yavuzer G, et al: Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: A case report. Brain Der 2001;23:355-358.
7. Amor DJ, Kornberg AJ, Smith LJ: Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome. J Paediatr Child Health 2000;36:603-605.
8. Nowaczyk MJ, Mernagh JR, Bourgeois JM, et al: Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. Am J Med Genet 2000;91:261-266.
9. Romiti R, Rengifo JA, Arnone M, et al: Encephalocraniocutaneous lipomatosis: A new case report and review of the literature. J Dermatol 1999;26:808-812.
10. Sant'Anna GD, Saffer M, Mauri M, et al: Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: A rare neurocutaneous syndrome. Int J Pediatr Otorhinolaryngol 1999;49:231-235.
11. Parazzini C, Triulzi F, Russo G, et al: Encephalocraniocutaneous lipomatosis: Complete neuroradiologic evaluation and follow-up of two cases. AJNR Am J Neuroradiol 1999;20:173-176.
12. Louvet S, Leaute-Labreze C, Labbe L, et al: Encephalocraniocutaneous lipomatosis. Ann Dermatol Venereol 1997; 124:549-551.
13. Ciatti S, Del Monaco M, Hyde P, et al: Encephalocraniocutaneous lipomatosis: A rare neurocutaneous syndrome. J Am Acad Dermatol 1998;38:102-104.
14. Roszkowski M, Dabrowski D: Encephalo-cranio-cutaneous lipomatosis (ECCL) - Haberland syndrome. A case report with review of the literature. Neurol Neurochir Pol 1997;31:607-613.
15. Narbay G, Meire F, Verloes A, et al: Ocular manifestations in Delleman syndrome (oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases. Bull Soc Belge Ophtalmol 1996;261:65-70.
16. Legius E, Wu R, Eyssen M, et al: Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet 1995;32:316-319.
17. Nosti-Martinez D, del Castillo V, Duran-Mckinster C, et al: Encephalocraniocutaneous lipomatosis: An uncommon neurocutaneous syndrome. J Am Acad Dermatol 1995;32:387-389.
18. MacLaren MJ, Kluijt I, Koole FD: Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis. Doc Ophthalmol 1995;90:87-98.
19. Kodsi SR, Bloom KE, Egbert JE, et al: Ocular and systemic manifestations of encephalocraniocutaneous lipomatosis. Am J Ophthalmol 1994;118:77-82.
20. Hennekam RC: Scalp lipomas and cerebral malformations: Overlap between encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. Clin Dysmorphol 1994;3:87-89.
21. Rizzo R, Pavone L, Micali G, et al: Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. Am J Med Genet 1993;47:653-655.
22. Grimalt R, Ermacora E, Mistura L, et al: Encephalocraniocutaneous lipomatosis: Case report and review of the literature. Pediatr Dermatol 1993;10:164-168.
23. Happle R, Steijlen PM: Encephalocraniocutaneous lipomatosis. A non-hereditary mosaic phenotype. Hautarzt 1993;44:19-22.
24. Loggers HE, Oosterwijk JC, Overweg-Plandsoen WC, et al: Encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. A differential diagnostic problem? Ophthalmic Paediatr Genet 1992;13:171-177.
25. Bamforth JS, Riccardi VM, Thisen P, et al: Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature. Neurofibromatosis 1989;2:166-173.
26. Al-Mefty O, Fox JL, Sakati N, et al: The multiple manifestations of the encephalocraniocutaneous lipomatosis syndrome. Childs Nerv Syst 1987; 3:132-134.
27. Alfonso I, Lopez PF, Cullen RF Jr, et al: Spinal cord involvement in encephalocraniocutaneous lipomatosis. Pediatr Neurol 1986;2:380-384.
28. Miyao M, Saito T, Yamamoto Y, et al: Encephalocraniocutaneous lipomatosis: A recently described neurocutaneous syndrome. Childs Brain 1984;11:280-284.
29. Sanchez NP, Rhodes AR, Mandell F, et al: Encephalocraniocutaneous lipomatosis: A new neurocutaneous syndrome. Br J Dermatol 1981;104:89-96.
30. Fishman MA, Chang CS, Miller JE: Encephalocraniocutaneous lipomatosis. Pediatrics 1978;61:580-582.
31. Fishman MA: Encephalocraniocutaneous lipomatosis. J Child Neurol 1987;2:186-193.
32. Schlack HG, Skopnik H: Encephalocraniocutaneous lipomatosis and linear naevus sebaceus. Monatsschr Kinderheilkd 1985;133:235-237.
33. Fryer AE: Scalp lipomas and cerebral malformations - Report of a case and review of the literature. Clin Dysmorphol 1992;1:99-102.
34. Venencie PY, Husson B, Lacroix C, et al: Encephalo-cranio-cutaneous lipomatosis: A case. Ann Dermatol Venereol 1993; 120:766-767.
35. Budka H: Intracranial lipomatous hamartomas (intracranial "lipomas"). A study of 13 cases including combinations with medulloblastoma, colloid and epidermoid cysts, angiomatosis and other malformations. Acta Neuropathol (Berl) 1974;28:205-222.
36. Moog U, de Die-Smulders C, Systermans JM, et al: Oculocerebrocutaneous syndrome: Report of three additional cases and aetiological considerations. Clin Genet 1997;52:219-225.
37. Biesecker LG, Happle R, Mulliken JB, et al: Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999;84:389-395.
38. Wiedemann HR, Burgio GR: Encephalocraniocutaneous lipomatosis and Proteus syndrome. Am J Med Genet 1986;25:403-404.
39. Happle R: Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987;16:899-906.
40. Hoo JJ, Kapp-Simon K, Rollnick B, et al: Oculocerebrocutaneous (Delleman) syndrome: A pleiotropic disorder affecting ectodermal tissues with unilateral predominance. Am J Med Genet 1991;40: 290-293.
41. McCall S, Ramzy MI, Cure JK, et al: Encephalocraniocutaneous lipomatosis and the Proteus syndrome: Distinct entities with overlapping manifestations. Am J Med Genet 1992;43:662-668.