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Haberland Syndrome Treatment & Management

  • Author: Sergiusz Jozwiak, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Feb 23, 2016
 

Approach Considerations

There are no effective treatment modalities for encephalocraniocutaneous lipomatosis (ECCL).

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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.[22]

Antiepileptic treatment is administered in patients with clinical epileptic fits.

Antiarrhythmic treatment may be required in patients with cardiac rhythm abnormalities.

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Surgical Care

Surgical treatment may be necessary in patients with extensive skin lesions.[23]

Selected patients with drug-resistant epilepsy may benefit from neurosurgical intervention, as reported by Roszkowski et al.[24]

Most spinal lipomas are asymptomatic, and surgery is usually not required. However, in some cases they may be causing neurological deficits and require surgical removal.[25] Surgical treatment may also be necessary if low-grade gliomas develop.

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Consultations

Consultation with a neurosurgeon, neurologist, ophthalmologist, and cardiologist is warranted as determined by history and physical examination findings.

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Activity

No special activity limitations are required for most patients.

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Contributor Information and Disclosures
Author

Sergiusz Jozwiak, MD, PhD Professor and Head of Pediatric Neurology, Warsaw Medical University, Poland

Sergiusz Jozwiak, MD, PhD is a member of the following medical societies: Sigma Xi

Disclosure: Received honoraria from Novartis for speaking and teaching.

Coauthor(s)

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Monika Slowinska The Medical University of Warsaw, Poland

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgements

Mark A Crowe, MD Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

References
  1. Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol. 1970 Feb. 22(2):144-55. [Medline].

  2. Fishman MA, Chang CS, Miller JE. Encephalocraniocutaneous lipomatosis. Pediatrics. 1978 Apr. 61(4):580-2. [Medline].

  3. Happle R, Steijlen PM. [Encephalocraniocutaneous lipomatosis. A non-hereditary mosaic phenotype]. Hautarzt. 1993 Jan. 44(1):19-22. [Medline].

  4. Cultrera F, Guarnera F, Giardina MC. Overlap among neurocutaneous syndromes. Observations on encephalocraniocutaneous lipomatosis. Minerva Pediatr. 2004 Apr. 56(2):219-22. [Medline].

  5. Legius E, Wu R, Eyssen M, Marynen P, Fryns JP, Cassiman JJ. Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet. 1995 Apr. 32(4):316-9. [Medline].

  6. Ayer RE, Zouros A. Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. J Neurosurg Pediatr. 2011 Sep. 8(3):316-20. [Medline].

  7. 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. 2003 Sep. 162(9):589-93. [Medline].

  8. Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet. 2009 Nov. 46 (11):721-9. [Medline].

  9. Happle R, Horster S. Nevus psiloliparus: report of two nonsyndromic cases. Eur J Dermatol. 2004 Sep-Oct. 14(5):314-6. [Medline].

  10. Gokhale NR, Mahajan PM, Belgaumkar VA, Pradhan SN, Uttarwar NS. Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. Indian J Dermatol Venereol Leprol. 2007 Jan-Feb. 73(1):40-2. [Medline].

  11. Stieler KM, Astner S, Bohner G, Bartels NG, Proquitte H, Sterry W, et al. Encephalocraniocutaneous lipomatosis with didymosis aplasticopsilolipara. Arch Dermatol. 2008 Feb. 144(2):266-8. [Medline].

  12. Almer Z, Vishnevskia-Dai V, Zadok D. Encephalocraniocutaneous lipomatosis: case report and review of the literature. Cornea. 2003 May. 22(4):389-90. [Medline].

  13. Valladares MJ, Blanco MJ, Lopez-Lopez F, Gonzalez F. Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. Eur J Paediatr Neurol. 2007 Mar. 11(2):108-10. [Medline].

  14. Fishman MA. Encephalocraniocutaneous lipomatosis. J Child Neurol. 1987 Jul. 2(3):186-93. [Medline].

  15. Thakur S, Thakur V, Sood RG, Thakur CS, Khanna S. Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature. Indian J Radiol Imaging. 2013 Oct. 23(4):333-6. [Medline]. [Full Text].

  16. Pregowska K, Jurkiewicz E, Miszczak-Knecht M, Turska-Kmiec A, Bieganowska K. Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report. Eur J Pediatr. 2013 Aug 14. [Medline].

  17. Hunter AG. Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?. Am J Med Genet A. 2006 Apr 1. 140(7):709-26. [Medline].

  18. Habib F, Elsaid MF, Salem KY, Ibrahim KO, Mohamed K. Oculo-ectodermal syndrome: A case report and further delineation of the syndrome. Qatar Med J. 2014. 2014 (2):114-22. [Medline].

  19. Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15. 143A(24):2963-72. [Medline].

  20. Bieser S, Reis M, Guzman M, Gauvain K, Elbabaa S, Braddock SR, et al. Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL. Am J Med Genet A. 2015 Apr. 167A (4):878-81. [Medline].

  21. 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. 2007 Dec 15. 143A(24):2973-80. [Medline].

  22. Zielinska-Kazmierska B, Grodecka J, Jablonska-Polakowska L, Arkuszewski P. Mandibular osteoma in the encephalocraniocutaneous lipomatosis. J Craniomaxillofac Surg. 2005 Aug. 33(4):286-9. [Medline].

  23. 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. 2008 Jun. 63(3):406-8. [Medline].

  24. Roszkowski M, Dabrowski D. [Encephalo-cranio-cutaneous lipomatosis (ECCL) -- Haberland syndrome. A case report with review of the literature]. Neurol Neurochir Pol. 1997 May-Jun. 31(3):607-13. [Medline].

  25. Chiang CC, Lin SC, Wu HM, Wang JC, Yang TF, Chen HH, et al. Clinical manifestation and neurosurgical intervention of encephalocraniocutaneous lipomatosis--a case report and review of the literature. Childs Nerv Syst. 2014 Jan. 30 (1):13-7. [Medline].

  26. 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. 2005 May. 6(3):440-3. [Medline].

  27. Gawel J, Schwartz RA, Jozwiak S. Encephalocraniocutaneous lipomatosis. J Cutan Med Surg. 2003 Jan-Feb. 7(1):61-5. [Medline].

  28. Jozwiak S, Gawel J, Kasprzyk-Obara J, et al. Encephalocraniocutaneous lipomatosis - case report. Pediatr Pol. 2001. 76:53-6.

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A child with Haberland syndrome. Apparent alopecia and small cutaneous soft lipomas on the face and eyelid.
CT scan shows an enlargement of the left lateral ventricle in a child with Haberland syndrome. Note an asymmetry of the hemispheres and calcifications in the midline.
Table. Revised Diagnostic Criteria for Encephalocraniocutaneous Lipomatosis[8]
EyeSkinCentral Nervous SystemOther
Major criteriaMajor criteriaMajor criteriaMajor criteria
Choristoma, with or without associated anomaliesProven nevus psiloliparis (NP)Intracranial lipomaJaw tumor (osteoma, odontoma, or ossifying fibroma)
Possible NP and >1 of minor criteria 2-5Inraspinal lipomaMultiple bone cysts
 >2 of minor criteria 2–5>2 of minor criteriaAortic coarctation
Minor criteriaMinor criteriaMinor criteria 
Corneal and other anterior chamber anomaliesPossible NPAbnormal intracranial vessels (eg, angioma, excessive vessels) 
Ocular or eyelid colobomaPatchy or streaky nonscarring alopecia (without fatty nevus)Arachnoid cyst or other abnormality of meninges 
Calcification of globeSubcutaneous lipoma(s) in frontotemporal regionComplete or partial atrophy of a hemisphere 
 Focal skin aplasia/hypoplasia on scalpPorencephalic cyst(s) 
 Small nodular skin tags on eyelids or between outer and tragus canthusAsymmetrically dilated ventricles or hydrocephalus 
  Calcification (not basal ganglia) 
Application of the Criteria to the Diagnosis of Encephalocraniocutaneous Lipomatosis
Definite case
Three systems involved, major criteria in >2, or
Three systems involved, proven NP or possible NP + >1 of minor skin criteria 2–5
Two systems involved with major criteria, one of which is proven NP or possible NP >1 of minor skin criteria 2-5
    
Probable case
Two systems involved, major criteria in both
Two systems involved, proven or possible NP
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