Encephalocraniocutaneous Lipomatosis - GeneReviews® - NCBI . . . ECCL comprises a spectrum of predominantly congenital anomalies In its typical form, ECCL is characterized by congenital skin, eye, and brain anomalies, in particular intracranial and spinal lipomas To a much lesser degree, the bones and the heart can be affected About 40% of affected individuals have bilateral abnormalities of the skin or
Encephalocraniocutaneous lipomatosis - MedlinePlus Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily affects the brain, eyes, and skin of the head and face Explore symptoms, inheritance, genetics of this condition
Encephalocraniocutaneous lipomatosis - Wikipedia Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the brain, eyes, and skin of the head and face [2] It is characterized by unilateral subcutaneous and intracranial lipomas, alopecia, unilateral porencephalic cysts, epibulbar choristoma and other ophthalmic abnormalities
Haberland Syndrome (Encephalocraniocutaneous Lipomatosis) Encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital, neurocutaneous disorder with unilateral lipomatous cutaneous neoplasms devoid of hair and ipsilateral ophthalmologic and
Encephalocraniocutaneous lipomatosis | About the Disease | GARD Encephalocraniocutaneous lipomatosis is caused by genetic mutations, also known as pathogenic variants Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing
Encephalocraniocutaneous lipomatosis: A rare congenital . . . Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome is a rare sporadic congenital neurocutaneous disorder characterized by unilateral lipomas of the cranium, face and neck, ipsilateral lipodermoids of the eye and ipsilateral brain anomalies
Encephalocraniocutaneous Lipomatosis - PubMed Clinical characteristics: Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies In its typical form, ECCL is characterized by congenital anomalies of the skin (nevus psiloliparus, patchy or streaky non-scarring alopecia, subcutaneous lipomas in the frontotemporal region, focal skin aplasia or