Haberland Syndrome Clinical Presentation

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

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
  • 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]
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Physical

The characteristic cutaneous neoplasm, named nevus psiloliparus (Greek for hairless fatty nevus), has been noted so far only in patients with encephalocraniocutaneous lipomatosis. In 2004, Happle and Horster reported nevus psiloliparus in 2 otherwise healthy girls, suggesting that the skin lesion may be a nonsyndromic skin disorder.[8] Large, slightly protuberant, soft tissue masses of the scalp are located on 1 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.[9]

Cutaneous abnormalities usually involve only the head and face; however, they may be documented soon after birth.[10]

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 alopeciaA 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. Note the following:

  • 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.[11] Valladares et al described a patient (a full-term newborn) with bilateral conjunctival tumors.[12]

Neurological manifestations occur to variable degrees. Note the following:

  • 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.[13]

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.

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.[14]

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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.

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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.

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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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