Encephalocraniocutaneous lipomatosis
| Encephalocraniocutaneous lipomatosis | |
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| Synonyms | Haberland syndrome,<ref>,
Encephalocraniocutaneous lipomatosis (haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature, Clinics, Vol. 63(Issue: 3), pp. 406–408, DOI: 10.1590/S1807-59322008000300020, PMID: 18568254, PMC: 2664244,</ref> |
| Pronounce | |
| Field | neurology |
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Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the brain, eyes, and skin of the head and face.<ref>
ECCL(link). Genetics Home Reference.
</ref> It is characterized by unilateral subcutaneous and intracranial lipomas, alopecia, unilateral porencephalic cysts, epibulbar choristoma and other ophthalmic abnormalities.
It was named after Haberland and Perou who first described it.<ref>,
Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis., Archives of Neurology, Vol. 22(Issue: 2), pp. 144–55, DOI: 10.1001/archneur.1970.00480200050005, PMID: 4902772,</ref>
History[edit]
This condition was first described in 1970.
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