Haberland Syndrome 

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

Background

Encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital, neurocutaneous disorder with unilateral lipomatous cutaneous neoplasms devoid of hair and ipsilateral ophthalmologic and neurologic malformations. Haberland and Perou first described the disorder in 1970 in the clinical and necropsy findings of a 51-year-old man who has epilepsy and mental retardation.[1] They suggested that the man had a previously unreported neurocutaneous syndrome, which they termed encephalocraniocutaneous lipomatosis. In reports, the reporting authors termed the syndrome Haberland syndrome, from the names of the original authors. Approximately 45 cases have been delineated since 1970. Encephalocraniocutaneous lipomatosis has also become known under the term Fishman syndrome.[2]

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.
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Pathophysiology

The pathogenesis of Haberland syndrome remains unknown. Dysgenesia of the cephalic neural crest and the anterior neural tube is a most widely accepted theory of the pathogenesis of Haberland syndrome. Haberland and Perou speculated as to whether the ectodermal malformations are caused by the same basic defect responsible for the mesenchymal malformations or whether they were secondary to the mesodermal dysgenesis.[1] No evidence exists as yet of genetic transmission or chromosomal abnormality.

Happle and Steijlen suggested that the origin of this nonhereditary genodermatosis could be a lethal autosomal mutation that survives in a mosaic state.[3]

In 2004, Cultrera et al described a female infant that showed significant overlap of encephalocraniocutaneous lipomatosis with oculocerebrocutaneous Delleman syndrome.[4] According to these authors, such overlap may support the theory of somatic mosaicism.

Legius et al reported a unique case of a child having clinical findings of Haberland syndrome and features of neurofibromatosis type 1 (NF-1), in whom a de novo mutation of the NF1 gene was detected; however, because of the relatively high incidence of NF-1 in the general population, a coincidental occurrence of both disorders in the same patient cannot be excluded.[5]

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Epidemiology

Frequency

International

Approximately 45 patients are reported in the literature. No epidemiological data on the frequency of the disorder are available.

Mortality/Morbidity

Many patients with Haberland syndrome lead normal lives. Complications usually are caused by intracerebral malformations.

Race

No clear racial predilection exists.

Sex

So far, the syndrome has been found in an almost equal number of girls and boys (5:6).

Age

Skin manifestations usually are evident at birth. Seizures may develop at any age, but they may be responsible for intellectual impairment when they appear in young children.

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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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