Haberland Syndrome Treatment & Management
- Author: Sergiusz Jozwiak, MD, PhD; Chief Editor: Dirk M Elston, MD more...
Medical Care
Therapy of cutaneous and subcutaneous lesions, especially on the face and cranium, is challenging. Zielinska-Kazmierska et al reported mandibular reconstruction after resection of a large osteoma.[17]
Antiepileptic treatment is administered in patients with clinical epileptic fits.
Antiarrhythmic treatment may be required in patients with cardiac rhythm abnormalities.
Surgical Care
Surgical treatment may be necessary in patients with extensive skin lesions.[18]
Selected patients with drug-resistant epilepsy may benefit from neurosurgical intervention, as reported by Roszkowski et al.[19]
Consultations
Consultation with a neurosurgeon, neurologist, ophthalmologist, and cardiologist is warranted as determined by history and physical examination findings.
Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol. Feb 1970;22(2):144-55. [Medline].
Fishman MA, Chang CS, Miller JE. Encephalocraniocutaneous lipomatosis. Pediatrics. Apr 1978;61(4):580-2. [Medline].
Happle R, Steijlen PM. [Encephalocraniocutaneous lipomatosis. A non-hereditary mosaic phenotype]. Hautarzt. Jan 1993;44(1):19-22. [Medline].
Cultrera F, Guarnera F, Giardina MC. Overlap among neurocutaneous syndromes. Observations on encephalocraniocutaneous lipomatosis. Minerva Pediatr. Apr 2004;56(2):219-22. [Medline].
Legius E, Wu R, Eyssen M, Marynen P, Fryns JP, Cassiman JJ. Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet. Apr 1995;32(4):316-9. [Medline].
Ayer RE, Zouros A. Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. J Neurosurg Pediatr. Sep 2011;8(3):316-20. [Medline].
Hauber K, Warmuth-Metz M, Rose C, Brocker EB, Hamm H. Encephalocraniocutaneous lipomatosis: a case with unilateral odontomas and review of the literature. Eur J Pediatr. Sep 2003;162(9):589-93. [Medline].
Happle R, Horster S. Nevus psiloliparus: report of two nonsyndromic cases. Eur J Dermatol. Sep-Oct 2004;14(5):314-6. [Medline].
Gokhale NR, Mahajan PM, Belgaumkar VA, Pradhan SN, Uttarwar NS. Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. Indian J Dermatol Venereol Leprol. Jan-Feb 2007;73(1):40-2. [Medline].
Stieler KM, Astner S, Bohner G, Bartels NG, Proquitte H, Sterry W, et al. Encephalocraniocutaneous lipomatosis with didymosis aplasticopsilolipara. Arch Dermatol. Feb 2008;144(2):266-8. [Medline].
Almer Z, Vishnevskia-Dai V, Zadok D. Encephalocraniocutaneous lipomatosis: case report and review of the literature. Cornea. May 2003;22(4):389-90. [Medline].
Valladares MJ, Blanco MJ, Lopez-Lopez F, Gonzalez F. Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. Eur J Paediatr Neurol. Mar 2007;11(2):108-10. [Medline].
Fishman MA. Encephalocraniocutaneous lipomatosis. J Child Neurol. Jul 1987;2(3):186-93. [Medline].
Hunter AG. Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?. Am J Med Genet A. Apr 1 2006;140(7):709-26. [Medline].
Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. Dec 15 2007;143A(24):2963-72. [Medline].
Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, et al. Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?. Am J Med Genet A. Dec 15 2007;143A(24):2973-80. [Medline].
Zielinska-Kazmierska B, Grodecka J, Jablonska-Polakowska L, Arkuszewski P. Mandibular osteoma in the encephalocraniocutaneous lipomatosis. J Craniomaxillofac Surg. Aug 2005;33(4):286-9. [Medline].
Koishi GN, Yoshida M, Alonso N, Matushita H, Goldenberg D. Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature. Clinics. Jun 2008;63(3):406-8. [Medline].
Roszkowski M, Dabrowski D. [Encephalo-cranio-cutaneous lipomatosis (ECCL) -- Haberland syndrome. A case report with review of the literature]. Neurol Neurochir Pol. May-Jun 1997;31(3):607-13. [Medline].
Donaire A, Carreno M, Bargallo N, Setoaín X, Agudo R, Martin G, et al. Presurgical evaluation and cognitive functional reorganization in Fishman syndrome. Epilepsy Behav. May 2005;6(3):440-3. [Medline].
Al-Mefty O, Fox JL, Sakati N, Bashir R, Probst F. The multiple manifestations of the encephalocraniocutaneous lipomatosis syndrome. Childs Nerv Syst. 1987;3(2):132-4. [Medline].
Alfonso I, Lopez PF, Cullen RF Jr, Martin-Jimenez R, Bejar RL. Spinal cord involvement in encephalocraniocutaneous lipomatosis. Pediatr Neurol. Nov-Dec 1986;2(6):380-4. [Medline].
Andreadis DA, Rizos CB, Belazi M, Peneva M, Antoniades DZ. Encephalocraniocutaneous lipomatosis accompanied by maxillary compound odontoma and juvenile angiofibroma: report of a case. Birth Defects Res A Clin Mol Teratol. Nov 2004;70(11):889-91. [Medline].
Bamforth JS, Riccardi VM, Thisen P, Chitayat D, Friedman JM, Caruthers J, et al. Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature. Neurofibromatosis. 1989;2(3):166-73. [Medline].
Brown KE, Goldstein SM, Douglas RS, Katowitz JA. Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome. J AAPOS. Apr 2003;7(2):148-9. [Medline].
Brumback RA, Leech RW. Fishman's syndrome (encephalocraniocutaneous lipomatosis): a field defect of ectomesoderm. J Child Neurol. Jul 1987;2(3):168-9. [Medline].
Ciatti S, Del Monaco M, Hyde P, Bernstein EF. Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. J Am Acad Dermatol. Jan 1998;38(1):102-4. [Medline].
Gawel J, Schwartz RA, Jozwiak S. Encephalocraniocutaneous lipomatosis. J Cutan Med Surg. Jan-Feb 2003;7(1):61-5. [Medline].
Grimalt R, Ermacora E, Mistura L, Russo G, Tadini GL, Triulzi F, et al. Encephalocraniocutaneous lipomatosis: case report and review of the literature. Pediatr Dermatol. Jun 1993;10(2):164-8. [Medline].
Hamm H. Cutaneous mosaicism of lethal mutations. Am J Med Genet. Aug 6 1999;85(4):342-5. [Medline].
Jozwiak S, Gawel J, Kasprzyk-Obara J, et al. Encephalocraniocutaneous lipomatosis - case report. Pediatr Pol. 2001;76:53-6.
Kodsi SR, Bloom KE, Egbert JE, Holland EJ, Cameron JD. Ocular and systemic manifestations of encephalocraniocutaneous lipomatosis. Am J Ophthalmol. Jul 15 1994;118(1):77-82. [Medline].
Lasierra R, Valencia I, Carapeto FJ, Ventura P, Samper MP, Rodriguez G, et al. Encephalocraniocutaneous lipomatosis: neurologic manifestations. J Child Neurol. Oct 2003;18(10):725-9. [Medline].
Louvet S, Leaute-Labreze C, Labbe L, Chateil JF, Taieb A. [Encephalocraniocutaneous lipomatosis]. Ann Dermatol Venereol. 1997;124(8):549-51. [Medline].
MacLaren MJ, Kluijt I, Koole FD. Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis. Doc Ophthalmol. 1995;90(1):87-98. [Medline].
McCall S, Ramzy MI, Cure JK, Pai GS. Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. Am J Med Genet. Jul 1 1992;43(4):662-8. [Medline].
Miyao M, Saito T, Yamamoto Y, Kamoshita S. Encephalocraniocutaneous lipomatosis: a recently described neurocutaneous syndrome. Childs Brain. 1984;11(4):280-4. [Medline].
Moog U, Jones MC, Bird LM, Dobyns WB. Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet. Dec 2005;42(12):913-21. [Medline].
Narbay G, Meire F, Verloes A, Casteels I, Devos E. 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. [Medline].
Nosti-Martinez D, del Castillo V, Duran-Mckinster C, Tamayo-Sanchez L, Orozco-Covarrubias ML, Ruiz-Maldonado R. Encephalocraniocutaneous lipomatosis: an uncommon neurocutaneous syndrome. J Am Acad Dermatol. Feb 1995;32(2 Pt 2):387-9. [Medline].
Nowaczyk MJ, Mernagh JR, Bourgeois JM, Thompson PJ, Jurriaans E. Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. Am J Med Genet. Apr 10 2000;91(4):261-6. [Medline].
Parazzini C, Triulzi F, Russo G, Mastrangelo M, Scotti G. Encephalocraniocutaneous lipomatosis: complete neuroradiologic evaluation and follow-up of two cases. AJNR Am J Neuroradiol. Jan 1999;20(1):173-6. [Medline].
Rathoriya R, Shrivastava J. Encephalocraniocutaneous lipomatosis. Indian Pediatr. Mar 2006;43(3):262-3. [Medline].
Rizzo R, Pavone L, Micali G, Nigro F, Cohen MM Jr. Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. Am J Med Genet. Oct 1 1993;47(5):653-5. [Medline].
Romiti R, Rengifo JA, Arnone M, Sotto MN, Valente NY, Jansen T. Encephalocraniocutaneous lipomatosis: a new case report and review of the literature. J Dermatol. Dec 1999;26(12):808-12. [Medline].
Rubegni P, Risulo M, Sbano P, Buonocore G, Perrone S, Fimiani M. Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Clin Exp Dermatol. Jul 2003;28(4):387-90. [Medline].
Sanchez NP, Rhodes AR, Mandell F, Mihm MC. Encephalocraniocutaneous lipomatosis: a new neurocutaneous syndrome. Br J Dermatol. Jan 1981;104(1):89-96. [Medline].
Sant'Anna GD, Saffer M, Mauri M, Facco S, Raupp S. Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: a rare neurocutaneous syndrome. Int J Pediatr Otorhinolaryngol. Aug 20 1999;49(3):231-5. [Medline].
Savage MG, Heldt L, Dann JJ, Bump RL. Encephalocraniocutaneous lipomatosis and mixed odontogenic tumors. J Oral Maxillofac Surg. Aug 1985;43(8):617-20. [Medline].
Schlack HG, Skopnik H. [Encephalocraniocutaneous lipomatosis and linear naevus sebaceus]. Monatsschr Kinderheilkd. Apr 1985;133(4):235-7. [Medline].
Sofiatti A, Cirto AG, Arnone M, Romiti R, Santi C, Leite C, et al. Encephalocraniocutaneous lipomatosis: clinical spectrum of systemic involvement. Pediatr Dermatol. Jan-Feb 2006;23(1):27-30. [Medline].
Torrelo A, Boente Mdel C, Nieto O, Asial R, Colmenero I, Winik B, et al. Nevus psiloliparus and aplasia cutis: a further possible example of didymosis. Pediatr Dermatol. May-Jun 2005;22(3):206-9. [Medline].
Walbaum R, Van de Velde-Staquet MF, Bahon-Le Capon J, Boudiguet B, Dhellemmes P, Krivosic R, et al. [Neurolipomatosis with encephalo-oculo-cutaneous dysplasia]. Pediatrie. Oct-Nov 1979;34(7):717-23. [Medline].
Wiedemann HR, Burgio GR. Encephalocraniocutaneous lipomatosis and Proteus syndrome. Am J Med Genet. Oct 1986;25(2):403-4. [Medline].

