Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Haberland Syndrome Clinical Presentation

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

History

The clinical picture of Haberland syndrome may vary from patient to patient; however, a set of clinical features is regarded as characteristic for the disorder.[6] The primary clinical features noted for almost all cases are as follows:

  • A unilateral porencephalic cysts with cortical atrophy
  • Intracranial lipomas, often located in the cerebellopontine angle
  • Ipsilateral connective tissue usually lipomatous hamartomas of the scalp, eyelid, and outer globe of the eye
  • Cranial asymmetry
  • Marked developmental delay and mental retardation
  • Seizures
  • Spasticity of the contralateral limbs
  • Unilateral odontomas (one report) [7]

The diagnosis of encephalocraniocutaneous lipomatosis (ECCL) is mainly based on history, clinical examination, and imaging studies. Original diagnostic criteria were published by Hunter in 2006. In 2009 Moog has analyzed 54 patients with encephalocraniocutaneous lipomatosis and proposed revised diagnostic criteria.[8]

Table. Revised Diagnostic Criteria for Encephalocraniocutaneous Lipomatosis[8] (Open Table in a new window)

Eye Skin Central Nervous System Other
Major criteria Major criteria Major criteria Major criteria
Choristoma, with or without associated anomalies Proven nevus psiloliparis (NP) Intracranial lipoma Jaw tumor (osteoma, odontoma, or ossifying fibroma)
Possible NP and >1 of minor criteria 2-5 Inraspinal lipoma Multiple bone cysts
  >2 of minor criteria 2–5 >2 of minor criteria Aortic coarctation
Minor criteria Minor criteria Minor criteria  
Corneal and other anterior chamber anomalies Possible NP Abnormal intracranial vessels (eg, angioma, excessive vessels)  
Ocular or eyelid coloboma Patchy or streaky nonscarring alopecia (without fatty nevus) Arachnoid cyst or other abnormality of meninges  
Calcification of globe Subcutaneous lipoma(s) in frontotemporal region Complete or partial atrophy of a hemisphere  
  Focal skin aplasia/hypoplasia on scalp Porencephalic cyst(s)  
  Small nodular skin tags on eyelids or between outer and tragus canthus Asymmetrically 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
Next

Physical

The characteristic cutaneous neoplasm, named nevus psiloliparus (Greek for hairless fatty nevus), has been noted so far only in patients with encephalocraniocutaneous lipomatosis (ECCL). In 2004, Happle and Horster reported nevus psiloliparus in 2 otherwise healthy girls, suggesting that the skin lesion may be a nonsyndromic skin disorder[9] ; however, it still remains a characteristic change for encephalocraniocutaneous lipomatosis. Large, slightly protuberant, soft tissue masses of the scalp are located on one side of the scalp and usually do not cross the midline, but bilateral involvement also has been reported. These cutaneous soft tumors, often lipomas, have overlying skin devoid of hair.

Alopecia is a constant finding.[10]

Cutaneous abnormalities usually involve only the head and face; however, they may be documented soon after birth.[11]

Some patients have ill-defined bony protuberances on the skull (associated with the scalp), subcutaneous lipomatous nodules, and tumors. Note the image below.

A child with Haberland syndrome. Apparent alopecia A child with Haberland syndrome. Apparent alopecia and small cutaneous soft lipomas on the face and eyelid.

Skin-colored papular or polypoid cutaneous nodules may be observed on the face and eyelid in a unilateral distribution on the same side as the scalp lesions. These may represent small angiolipomas, fibrolipomas, connective tissue nevi, or mixed hamartomas of cartilage, fat, and connective tissue. Mandibular osteomas have also been reported.

Pigmented melanocytic nevi are another skin abnormality found in some patients with encephalocraniocutaneous lipomatosis.

Ocular involvements appear to be a uniform feature of Haberland syndrome. The most common ocular abnormalities include epibulbar choristomas, small papules around the eyelids, and desmoid tumors of the scleral limb. Persistent hyaloid vessels, dislocation of the lens capsule, clouding of the cornea, iris dysplasia, colobomas, microphthalmia, ocular calcifications, and optic nerve pallor also have been reported. Ocular manifestations may be bilateral. Almer et al reported a case of encephalocraniocutaneous lipomatosis with bilateral aniridia.[12] Valladares et al described a patient (a full-term newborn) with bilateral conjunctival tumors.[13]

Neurological manifestations occur to variable degrees. Mental status of the reported cases varies from totally normal to severe mental retardation. Seizures also are not a constant feature and may become evident in some patients in the first year of life, leading to mental retardation (only in adolescence in others). In most patients, testing of intellectual function revealed IQ scores ranging from 65-75. Spasticity, hemiplegia, and facial paresis also have been described in patients with encephalocraniocutaneous lipomatosis. One patient, delineated by Fishman in 1987, developed a subarachnoid hemorrhage, presumably related to leakage of blood from an aneurysmal-type vascular malformation.[14]

Other abnormalities found on physical examination of patients with encephalocraniocutaneous lipomatosis include vertebral abnormalities, extradural spinal cord lipomatous lesions, or leg, arm, or chest asymmetry. Thakur et al present a case of a patient with a large temporal exostosis.[15] Pregowska et al report an infant with multifocal atrial tachycardia.[16]  Moog also found congenital heart malformations in five of 54 analyzed patients, in particular aortic coarctation (4 of 5).[8]

Some authors have recognized similarities in the clinical picture of encephalocraniocutaneous lipomatosis and oculocerebrocutaneous lipomatosis (Delleman syndrome). Hunter compared the clinical picture of both syndromes (40 patients with Delleman syndrome and 44 with encephalocraniocutaneous lipomatosis) but the correlation remains unclear.[17]

Some authors also propose oculoectodermal syndrome as a milder variant of encephalocraniocutaneous lipomatosis, without intracranial lipomatosis.[18]

Previous
Next

Causes

All reported cases of encephalocraniocutaneous lipomatosis are sporadic. A nonhereditary, autosomal mutation that may survive only in a mosaic state may be a cause of the clinical picture of encephalocraniocutaneous lipomatosis.

Previous
 
 
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.

 
Previous
Next
 
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]
Eye Skin Central Nervous System Other
Major criteria Major criteria Major criteria Major criteria
Choristoma, with or without associated anomalies Proven nevus psiloliparis (NP) Intracranial lipoma Jaw tumor (osteoma, odontoma, or ossifying fibroma)
Possible NP and >1 of minor criteria 2-5 Inraspinal lipoma Multiple bone cysts
  >2 of minor criteria 2–5 >2 of minor criteria Aortic coarctation
Minor criteria Minor criteria Minor criteria  
Corneal and other anterior chamber anomalies Possible NP Abnormal intracranial vessels (eg, angioma, excessive vessels)  
Ocular or eyelid coloboma Patchy or streaky nonscarring alopecia (without fatty nevus) Arachnoid cyst or other abnormality of meninges  
Calcification of globe Subcutaneous lipoma(s) in frontotemporal region Complete or partial atrophy of a hemisphere  
  Focal skin aplasia/hypoplasia on scalp Porencephalic cyst(s)  
  Small nodular skin tags on eyelids or between outer and tragus canthus Asymmetrically 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
Previous
Next
 
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.