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Haberland Syndrome Follow-up

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

Further Outpatient Care

Periodic neurologic and cardiologic assessment with echocardiography and electrocardiography may be indicated because of an anticipated progressive course.

Owing to reported midline low-grade gliomas in the suprasellar region in four encephalocraniocutaneous lipomatosis (ECCL) patients, some authors also recommend ophthalmologic and endocrinologic control in order to quickly discover any warning signs.

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Further Inpatient Care

No further inpatient care is needed except as indicated by associated abnormalities.

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Complications

Complications may arise because of associated abnormalities.

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Prognosis

The prognosis appears to correlate with the progression of neurologic lesions, either directly or secondary to complications from drug and surgical therapies. Many patients with Haberland syndrome lead normal lives. Complications usually are caused by intracerebral malformations.

In a study by Donaire et al, functional MRI revealed transfer of memory and language functions to the nonaffected hemisphere, providing evidence that functional reorganization and restoration of cognitive function may occur in persons with encephalocraniocutaneous lipomatosis.[26]

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Patient Education

Periodic outpatient visits are recommended.

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

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  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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