Haberland Syndrome Workup

  • Author: Sergiusz Jozwiak, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 25, 2012
 

Laboratory Studies

Laboratory test results usually are within the reference range.

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Imaging Studies

Perform neuroimaging studies in all patients with encephalocraniocutaneous lipomatosis.

Enlargement of the lateral ventricle, the intracranial cysts, and atrophy of the cerebral hemisphere ipsilateral to the cutaneous lipomatous hamartomas were the most common findings on CT scan or MRI of the head. In a comprehensive review of 52 patients from the literature, Moog et al found 33 (64%) who showed intracranial lipomas, frequently of cerebellopontine location.[15] See the image below.

CT scan shows an enlargement of the left lateral vCT 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.

Other alterations, including pontocerebellar atrophy, endocranial hypertension, porencephaly, perimedullary lipomas, and partial agenesis of the corpus callosum, also have been reported. Cortical calcifications and areas of cortical dysplasia have been documented in several patients. The serial imaging studies demonstrated the progression of CNS abnormalities.

Due to the possible presence of extradural spinal cord lipomatous lesions, some authors suggest screening for spinal abnormalities in asymptomatic patients. Spinal lipomas have been documented in 12 of 13 patients who had imaging studies of the spine.[15] Some patients may develop multiple cystic bone lesions Moog et al.[16]

Neurologic symptoms do not appear to be related to the extent of neuroradiologic abnormalities. Most patients had extremely extensive cerebral abnormalities with only minimal symptomatology.

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Other Tests

Perform an electrocardiogram to exclude conduction abnormalities in children with lipomatous infiltration in the atrial myocardium.

Ophthalmologic fundus examination may reveal papilledema or optic nerve pallor.

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Histologic Findings

Skin-colored papules predominantly affecting the eyelids, forehead, and cheeks represent fibrolipomas, angiofibromas, papillomas, connective tissue nevi, or hamartomatous tissue consisting of cartilage, fat, and connective tissue. Biopsy specimens taken from the alopecic area of the scalp reveal focal dermal fibrosis associated with increased amounts of subcutaneous fat extending into the upper reticular dermis. The cutaneous and ocular findings are limited to 1 hemicranium and are ipsilateral to the developmental defects of the brain.

The histologic examination of the brain performed in a case reported by Haberland and Perou revealed a defective lamination of the cerebrum, polymicrogyria, and calcification in the outer cerebral cortex overlying the porencephalic cyst.[1]

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Contributor Information and Disclosures
Author

Sergiusz Jozwiak, MD, PhD  Head, Professor, Department of Child Neurology, The Children's Memorial Health Institute of Warsaw, Poland

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

Disclosure: Novartis Honoraria Speaking and teaching

Coauthor(s)

Camila K Janniger, MD  Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

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

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

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

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

Disclosure: Nothing to disclose.

Glen H Crawford, MD  Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital

Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

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

Disclosure: Nothing to disclose.

References

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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.
 
 
 
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