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Year : 2019  |  Volume : 57  |  Issue : 2  |  Page : 163-166

Encephalocraniocutaneous lipomatosis: A rare neurocutaneous disorder

Department of Pediatric Ophthalmology, Joseph Eye Hospital, Institute of Ophthalmology, Trichy, Tamil Nadu, India

Date of Web Publication10-Sep-2019

Correspondence Address:
Dr. Antony Arokiadass Baskaran
Department of Pediatric Ophthalmology, Joseph Eye Hospital, Trichy, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/tjosr.tjosr_38_19

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A 5-year-old boy presented with the left eye epibulbar choristomas, upper lid coloboma, small periocular papules, and lipomatous swelling in the frontoparietal area with patchy alopecia on the left parietal side of the scalp. Neuroimaging showed left-sided cerebral hemiatrophy and ex vacuo dilation of the ventricle. The case was diagnosed as a case of encephalocraniocutaneolipomatosis based on the Moog's criteria. On follow-up after 4 years, the clinical features remained the same with no other systemic issues.

Keywords: Dermoid with alopecia, encephalocraniocutaneous lipomatosis, Goldenhar syndrome, Haberland's syndrome

How to cite this article:
Baskaran AA, Britto T. Encephalocraniocutaneous lipomatosis: A rare neurocutaneous disorder. TNOA J Ophthalmic Sci Res 2019;57:163-6

How to cite this URL:
Baskaran AA, Britto T. Encephalocraniocutaneous lipomatosis: A rare neurocutaneous disorder. TNOA J Ophthalmic Sci Res [serial online] 2019 [cited 2020 Aug 14];57:163-6. Available from: http://www.tnoajosr.com/text.asp?2019/57/2/163/266392

  Introduction Top

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous disorder of sporadic nature with varied ocular, dermatological, and neurological abnormalities. First reported by Haberland and Perou in 1970, it is also called “Haberland's syndrome” and “Fishman's syndrome.” It presents with ocular abnormalities such as choristomas and subcutaneous papules, dermatological abnormalities such as subcutaneous lipomas and auricular tags, and neurological abnormalities such as porencephalic cysts and intracranial lipomas which are usually unilateral. About 60 cases of ECCL have been reported in the literature.[1] The diagnosis of this syndrome may be challenging because of the close similarity of the clinical features with those occurring in Goldenhar syndrome and in other neurocutaneous disorders such as oculocutaneous syndrome (OCS) and sebaceous nevus syndrome. We report here the occurrence of ECCL in a 5-year-old boy who was followed up after 4 years.

  Case Report Top

A 5-year-old boy was brought by his parents for the evaluation of a growth that he had in his left eye (LE) since birth. This was not increasing in size, and the child was otherwise asymptomatic. His birth history was uneventful, and his developmental milestones were normal. There was no history of seizures in the past.

His visual acuity using Lea symbol matching cards was 6/6 in each eye. Examination revealed a diffuse yellowish-red growth on both the nasal and temporal portions of the bulbar conjunctiva of the LE, and this was clinically suggestive of lipodermoid. The upper lid margin of the LE had a notch at the junction of the medial one-third and lateral two-third suggestive of an upper lid coloboma. There were small papular lesions (about four in number) present in the periocular area near the canthus and along the upper lid margin [Figure 1]. The LE also showed a tilted enlarged disc with peripapillary stippling. The right eye (RE) was clinically normal.
Figure 1: Left eye: conjunctival lipodermoid, upper lid coloboma, small periocular papules, computerisedcomputerized tomography imaging of the brain showing left cerebral hemiatrophy with ex vacuo dilation of the left lateral ventricle. (Taken during the intial visit)

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There was a diffuse subcutaneous swelling in the frontotemporal area on the left side and soft in consistency with slippery margins; the skin over the swelling was normal and pinchable. The clinical features of the swelling were consistent with those of a lipomatous subcutaneous swelling [Figure 2]. A skin tag was found in the left ear, just behind the tragus [Figure 2]. The boy also was found to have a tongue-shaped area of alopecia extending from the forehead in the left parietal area of the scalp [Figure 2].
Figure 2: Auricular tag behind the ipsilateral tragus, nonscarring patchy alopecia on the left side of the head, and lipomatous swelling in the left frontotemporal area (curved white arrow) (taken during the initial visit)

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A computerized tomography of the brain revealed left cerebral hemiatrophy with ex vacuo dilation of the left lateral ventricle with compensatory cerebrospinal fluid enlargement [Figure 1]. A complete physical examination for cardiac and neurological deficits was clinically normal.

Based on the clinical data obtained from 54 cases, Moog[2] modified the criteria already published by Hunter to define cases of definite and probable ECCL [Table 1].[2] Our patient had one major eye criterion (epibulbar choristoma), one major skin criterion (three minor criteria-alopecia, lipomatous swelling in the frontotemporal region, and auricular tags), and one major central nervous system (CNS) criterion (two minor criteria – parietal cerebral hemiatrophy and dilation of ventricles). Based on these findings, the patient was diagnosed as a definite case of ECCL.
Table 1: Modified Moog's criteria for diagnosis of encephalocraniocutaneous lipomatosis

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The boy came to us follow-up after 4 years [Figure 3]. His vision was 6/6 in each eye using the Snellen chart. The anterior [Figure 4] and posterior segment findings [Figure 5] were the same as in the initial presentation. The intraocular pressure by noncontact tonometer was 15 mmHg in the RE and 14 mmHg in the LE. Dermatological findings [Figure 6] too were similar. There was no history of any neurological or cardiac impediment in the intervening years. He was doing well in school and did not have any other complaints.
Figure 3: During follow- up visit (now 9-year-old), lipomatous swelling in the left frontotemporal area causing an asymmetry to the appearance when compared with the right frontotemporal area. Notch in the left upper eyelid margin suggestive of the left upper lid coloboma, and epibulbar choristomas seen. Pupils pharmacologically dilated

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Figure 4: The left eye anterior segment picture showing diffuse interpalpebral subconjunctival masses extending to both temporal and nasal limbus with overlying pigmentation

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Figure 5: Fundus photograph of both eyes: left eye showing tilted disc with peripapillary stippling

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Figure 6: Tongue- shaped alopecia on the left side of the head. Auricular tag behind tragus, two papules at the lateral canthus of the left eye seen in this picture

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  Discussion Top

ECCL is a rare neurocutaneous disorder reported as early as 1970 by Haberland and Perou. Its exact molecular etiology is as yet unknown. Along with the OCS, ECCL has recently been suggested to be a mosaic rat sarcoma gene (RAS) opathy, which are a group of developmental syndromes caused by germline mutations in the RAS subfamily – mitogen-activated protein kinase pathway, with the tissue distribution and the genotype determining the variety of phenotypical and functional features of the disease.[3] Mutations in the gene encoding fibroblast growth factor receptor 1 have also been reported.[4]

ECCL has been found to present with ocular, dermatological, neurological, and rarely, cardiac and other systemic abnormalities. Ocular abnormalities are almost always present in patients with ECCL. Epibulbar choristomas and small periocular skin tags are the most common ocular findings in ECCL.[5] Other findings include eyelid colobomas, disrupted eyebrows,[2] severe myopia, optic nerve pallor, calcification of the globe, epicanthus inversus and hypertelorism, cicatricial ectropion of the upper eyelid, low-grade gliomas of the optic pathway, and proptosis due to fatty infiltration of the orbit with mechanical ptosis.[6] Cases of bilateral ocular abnormalities such as the absence of eyelashes, epibulbar dermoids, aniridia,[5] and optic disc colobomata have also been reported.[2]

Dermatological manifestations include subcutaneous lipomas, especially under an area of alopecia which is called nevus psiloliparius (a hairless, fatty tissue nevus), which is a very characteristic but not a pathognomonic sign of ECCL;[7] nonscarring alopecia; lipomas in the neck, lumbar region;[5] axillary and lumbosacral regions; and hypoplastic skin lesions.[6] Periocular papules have been shown by histopathological examination to be found to be fibromas, fibrolipomas, choristomas, or fibrolipomas.[2]

CNS abnormalities, such as intracranial lipomas, more often in the cerebellopontine angle; intraspinal lipomas, enlargement of the lateral ventricle, intracranial cysts, hydrocephalus, atrophy of the cerebral hemispheres, and multiple high-flow cerebral arteriovenous fistulas have been reported in ECCL.[2],[8] A wide spectrum of neurological involvement, from apparently normal children with normal intellect to children with severe developmental delay and seizures, has also been described.[2] Interestingly, improvement in motor milestones following partial excision of intramedullary lipomas has been described.[9] Our patient had cerebral hemiatrophy with ex vacuo dilation of the ventricle with no other neurological problems.

Ophthalmologists should be aware of this syndrome as a possible cause of epibulbar dermoids, especially if associated with alopecia or other suggestive features. There have been reports where ECCL was diagnosed as Goldenhar syndrome until neurological problems prompted a neuroimaging.[9] Early identification of this condition will enable the practitioner to rule out coexisting systemic abnormalities and aid in genetic counseling. There are very less reports of follow-up of patients with ECCL. This patient shows that those with ECCL can have a milder spectrum of the disease, enabling them to lead a near-normal day-to-day life. In conclusion, ECCL is a rare neurocutaneous disorder which has to be considered when managing patients with alopecia and epibulbar dermoids.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Bieser S, Reis M, Guzman M, Gauvain K, Elbabaa S, Braddock SR, et al. Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): Case report and literature review of low grade gliomas in ECCL. Am J Med Genet A 2015;167A: 878-81.  Back to cited text no. 1
Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet 2009;46:721-9.  Back to cited text no. 2
Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, et al. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clin Genet 2016;90:334-42.  Back to cited text no. 3
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, et al. Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis. Am J Hum Genet 2016;98:579-87.  Back to cited text no. 4
Parazzini C, Triulzi F, Russo G, Mastrangelo M, Scotti G. Encephalocraniocutaneous lipomatosis: Complete neuroradiologic evaluation and follow-up of two cases. AJNR Am J Neuroradiol 1999;20:173-6.  Back to cited text no. 5
Chandravanshi SL. Encephalocraniocutaneous lipomatosis: A case report and review of the literature. Indian J Ophthalmol 2014;62:622-7.  Back to cited text no. 6
[PUBMED]  [Full text]  
Happle R, Horster S. Nevus psiloliparus: Report of two nonsyndromic cases. Eur J Dermatol 2004;14:314-6.  Back to cited text no. 7
Batista LL, Mahadevan J, Sachet M, Husson B, Rasmussen J, Alvarez H, et al. Encephalocraniocutaneous lipomatosis syndrome in a child: Association with multiple high flow cerebral arteriovenous fistulae. Case report and review. Interv Neuroradiol 2002;8:273-83.  Back to cited text no. 8
Almer Z, Vishnevskia-Dai V, Zadok D. Encephalocraniocutaneous lipomatosis: Case report and review of the literature. Cornea 2003;22:389-90.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]

  [Table 1]


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