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Encephalocraniocutaneous lipomatosis(ECCL)

MedGen UID:
140807
Concept ID:
C0406612
Congenital Abnormality
Synonym: ECCL
SNOMED CT: Encephalocraniocutaneous lipomatosis (238905009); ECCL - encephalocraniocutaneous lipomatosis (238905009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): FGFR1 (8p11.23)
 
Monarch Initiative: MONDO:0013074
OMIM®: 613001
Orphanet: ORPHA2396

Disease characteristics

Excerpted from the GeneReview: Encephalocraniocutaneous Lipomatosis
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 hypoplasia on the scalp, and/or small nodular skin tags on the eyelids or between the outer canthus and tragus), eye (choristoma), and brain (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 the eyes. About one third of affected individuals have normal cognitive development, another one third have mild developmental delay (DD) or intellectual disability (ID), and the final one third have severe or unspecified DD/ID. Half of individuals have seizures. Affected individuals are at an increased (i.e., above the general population) risk of developing brain tumors, particularly low-grade gliomas such as pilocytic astrocytomas. There is evidence that oculoectodermal syndrome (OES) may constitute a clinical spectrum with ECCL, with OES on the mild end and ECCL on the more severe end of the spectrum. [from GeneReviews]
Authors:
Ute Moog  |  William B Dobyns   view full author information

Additional descriptions

From OMIM
Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007). The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, nonscarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).  http://www.omim.org/entry/613001
From MedlinePlus Genetics
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 tumor under the scalp covered by a smooth, hairless patch of skin. This type of tumor, called a nevus psiloliparus, is made up of fatty tissue. Some people with ECCL also have noncancerous tumors 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 tumors inside the brain or around the spinal cord. These tumors 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 tumors.  https://medlineplus.gov/genetics/condition/encephalocraniocutaneous-lipomatosis

Clinical features

From HPO
Lipoma
MedGen UID:
44173
Concept ID:
C0023798
Neoplastic Process
Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.
Subcutaneous lipoma
MedGen UID:
234674
Concept ID:
C1403035
Neoplastic Process
The presence of subcutaneous lipoma.
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Pelvic kidney
MedGen UID:
67446
Concept ID:
C0221209
Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Subvalvular aortic stenosis
MedGen UID:
90950
Concept ID:
C0340375
Disease or Syndrome
A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.
Peripheral pulmonary artery stenosis
MedGen UID:
138014
Concept ID:
C0345030
Finding
Stenosis of a peripheral branch of the pulmonary artery.
Astrocytoma
MedGen UID:
438
Concept ID:
C0004114
Neoplastic Process
Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Arachnoid cyst
MedGen UID:
86860
Concept ID:
C0078981
Disease or Syndrome
An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Cortical dysplasia
MedGen UID:
98129
Concept ID:
C0431380
Congenital Abnormality
The presence of developmental dysplasia of the cerebral cortex.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Multiple central nervous system lipomas
MedGen UID:
867789
Concept ID:
C4022180
Neoplastic Process
The presence of multiple lipomas located in the central nervous system.
Porencephalic cyst
MedGen UID:
906044
Concept ID:
C4082172
Disease or Syndrome
A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Eyelid coloboma
MedGen UID:
141737
Concept ID:
C0521573
Congenital Abnormality
A short discontinuity of the margin of the lower or upper eyelid.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Linear hyperpigmentation
MedGen UID:
480288
Concept ID:
C3278658
Finding
Nevus psiloliparus
MedGen UID:
1841866
Concept ID:
C5826500
Neoplastic Process
Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Hypoplasia of the iris
MedGen UID:
91029
Concept ID:
C0344539
Congenital Abnormality
Congenital underdevelopment of the iris.
Sclerocornea
MedGen UID:
344000
Concept ID:
C1853235
Disease or Syndrome
A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.
Limbal dermoid
MedGen UID:
401267
Concept ID:
C1867616
Neoplastic Process
A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEncephalocraniocutaneous lipomatosis
Follow this link to review classifications for Encephalocraniocutaneous lipomatosis in Orphanet.

Professional guidelines

PubMed

Lehalle D, Bruel AL, Vitobello A, Denommé-Pichon AS, Duffourd Y, Assoum M, Amiel J, Baujat G, Bessieres B, Bigoni S, Burglen L, Captier G, Dard R, Edery P, Fortunato F, Geneviève D, Goldenberg A, Guibaud L, Héron D, Holder-Espinasse M, Lederer D, Lopez Grondona F, Grotto S, Marlin S, Nadeau G, Picard A, Rossi M, Roume J, Sanlaville D, Saugier-Veber P, Triau S, Valenzuela Palafoll MI, Vanlerberghe C, Van Maldergem L, Vezain M, Vincent-Delorme C, Zivi E, Thevenon J, Vabres P, Thauvin-Robinet C, Callier P, Faivre L
Am J Med Genet A 2022 Jul;188(7):2036-2047. Epub 2022 Apr 21 doi: 10.1002/ajmg.a.62739. PMID: 35445792

Recent clinical studies

Etiology

Zaworski E, Gruber E, Regent-Smith A, Jones KL, Chalhoub MS, Lin K
Ann Plast Surg 2024 Apr 1;92(4):e29-e31. doi: 10.1097/SAP.0000000000003814. PMID: 38527346
Pavanello M, Piro L, Roggero A, Rossi A, Cataldi M, Piatelli G
Childs Nerv Syst 2024 Apr;40(4):1251-1258. Epub 2024 Jan 13 doi: 10.1007/s00381-024-06279-x. PMID: 38217730Free PMC Article
Jafry M, Sidbury R
Clin Dermatol 2020 Jul-Aug;38(4):455-461. Epub 2020 Apr 1 doi: 10.1016/j.clindermatol.2020.03.010. PMID: 32972603
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Ruggieri M, Praticò AD
Semin Pediatr Neurol 2015 Dec;22(4):207-33. Epub 2015 Nov 12 doi: 10.1016/j.spen.2015.11.001. PMID: 26706010

Diagnosis

Jafry M, Sidbury R
Clin Dermatol 2020 Jul-Aug;38(4):455-461. Epub 2020 Apr 1 doi: 10.1016/j.clindermatol.2020.03.010. PMID: 32972603
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Levy ML, Massey C
Handb Clin Neurol 2015;132:265-9. doi: 10.1016/B978-0-444-62702-5.00019-6. PMID: 26564086
Moog U
J Med Genet 2009 Nov;46(11):721-9. Epub 2009 Jul 1 doi: 10.1136/jmg.2009.066068. PMID: 19574261
Gawel J, Schwartz RA, Józwiak S
J Cutan Med Surg 2003 Jan-Feb;7(1):61-5. Epub 2002 Oct 9 doi: 10.1007/s10227-002-1142-x. PMID: 12362260

Therapy

Saxena P, Pradhan D, Verma R, Kumar SN, Deval R, Kumar Jain A
J Matern Fetal Neonatal Med 2020 May;33(10):1732-1743. Epub 2018 Nov 14 doi: 10.1080/14767058.2018.1529164. PMID: 30428736
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Siddiqui S, Naaz S, Ahmad M, Khan ZA, Wahab S, Rashid BA
Neuroradiol J 2017 Dec;30(6):578-582. Epub 2017 Jul 14 doi: 10.1177/1971400917693638. PMID: 28707961Free PMC Article

Prognosis

Zaworski E, Gruber E, Regent-Smith A, Jones KL, Chalhoub MS, Lin K
Ann Plast Surg 2024 Apr 1;92(4):e29-e31. doi: 10.1097/SAP.0000000000003814. PMID: 38527346
Ayer RE, Zouros A
J Neurosurg Pediatr 2011 Sep;8(3):316-20. doi: 10.3171/2011.6.PEDS11138. PMID: 21882925
Hunter AG
Am J Med Genet A 2006 Apr 1;140(7):709-26. doi: 10.1002/ajmg.a.31149. PMID: 16523517
Gawel J, Schwartz RA, Józwiak S
J Cutan Med Surg 2003 Jan-Feb;7(1):61-5. Epub 2002 Oct 9 doi: 10.1007/s10227-002-1142-x. PMID: 12362260
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Ophthalmic Paediatr Genet 1992 Sep;13(3):171-7. doi: 10.3109/13816819209046486. PMID: 1484695

Clinical prediction guides

Saxena P, Pradhan D, Verma R, Kumar SN, Deval R, Kumar Jain A
J Matern Fetal Neonatal Med 2020 May;33(10):1732-1743. Epub 2018 Nov 14 doi: 10.1080/14767058.2018.1529164. PMID: 30428736
Ahmed I, Tope WD, Young TL, Miller DM, Bloom KE
J Am Acad Dermatol 2002 Aug;47(2 Suppl):S196-200. doi: 10.1067/mjd.2002.110073. PMID: 12140461
Deda G, Caksen H, Yavuzer G, Arasil T
Brain Dev 2001 Aug;23(5):355-8. doi: 10.1016/s0387-7604(01)00219-4. PMID: 11504608
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J Dermatol 1999 Dec;26(12):808-12. doi: 10.1111/j.1346-8138.1999.tb02097.x. PMID: 10659502
Happle R, Küster W
Dermatology 1998;197(1):6-10. doi: 10.1159/000017968. PMID: 9693178

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