Encephalocraniocutaneous lipomatosis
अंतिम अद्यतन 18 Aug 2020
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Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily affects the brain, eyes, and skin of the head and face. Most of this condition's signs and symptoms are present from birth, and they vary widely among affected individuals.
विवरण
Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily affects the brain, eyes, and skin of the head and face. Most of this condition's signs and symptoms are present from birth, and they vary widely among affected individuals.
A hallmark feature of ECCL is a noncancerous tumour under the scalp covered by a smooth, hairless patch of skin. This type of tumour, called a nevus psiloliparus, is made up of fatty tissue. Some people with ECCL also have noncancerous tumours under the skin elsewhere on the head or face. Many have small flaps of skin called skin tags on the eyelids and around the eyes. Hair loss (alopecia), thin or missing patches of skin on the scalp (dermal hypoplasia or aplasia), and changes in skin coloring (pigmentation) are also possible.
The most common eye abnormality in ECCL is a noncancerous growth called a choristoma. These growths can be present in one or both eyes and may affect vision.
About two-thirds of people with ECCL have noncancerous fatty tumours inside the brain or around the spinal cord. These tumours are called intracranial lipomas and intraspinal lipomas, respectively. Affected individuals also have an increased risk of developing a type of brain cancer called a glioma. The brain and spinal cord abnormalities associated with ECCL can cause seizures, abnormal tensing of the muscles, and intellectual disability ranging from mild to profound. However, about one-third of affected individuals have normal intelligence.
Other kinds of growths may also occur in people with ECCL, including noncancerous jaw tumours.
Inheritance patterns
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Other names
ECCL
Fishman syndrome (formerly)
Haberland syndrome (formerly)
अधिक पठन और संदर्भ
- Encephalocraniocutaneous lipomatosis; MedlinePlus, National Library of Medicine.
- Bennett JT, Tan TY, Alcantara D, Tetrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium; Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006.
- Hunter AG. Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes? Am J Med Genet A. 2006 Apr 1;140(7):709-26. doi: 10.1002/ajmg.a.31149.
- Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15;143A(24):2963-72. doi: 10.1002/ajmg.a.32074.
- Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet. 2009 Nov;46(11):721-9. doi: 10.1136/jmg.2009.066068. Epub 2009 Jul 1.
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