Haberland Syndrome

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

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 60 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 alopecia A 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

Approximately 60 patients are reported in the literature. No epidemiological data on the frequency of the disorder are available.

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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