Generic selectors
Exact matches only
Search in title
Search in content
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Studies
Study Letter
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF
Case Report
2007:73:1;40-42
doi: 10.4103/0378-6323.30651
PMID: 17314447

Encephalocraniocutaneous lipomatosis: A rare neurocutaneous syndrome

NR Gokhale, PM Mahajan, VA Belgaumkar, SN Pradhan, NS Uttarwar
 Department of Dermatology, B. J. Medical College and Sassoon General Hospitals, Pune, Maharashtra, India

Correspondence Address:
N R Gokhale
39/30, Smruti Lane 9, Prabhat Road, Pune - 411 004
India
How to cite this article:
Gokhale N R, Mahajan P M, Belgaumkar V A, Pradhan S N, Uttarwar N S. Encephalocraniocutaneous lipomatosis: A rare neurocutaneous syndrome. Indian J Dermatol Venereol Leprol 2007;73:40-42
Copyright: (C)2007 Indian Journal of Dermatology, Venereology, and Leprology

Abstract

Encephalocraniocutaneous lipomatosis is a congenital hamartomatous disorder with unique ocular, cutaneous and neurological features. A 13-year-old boy presented with history of mental retardation and delayed developmental milestones. Bulbar conjunctiva of left eye showed hypertrophy with a soft reddish limbal nodule encroaching on the cornea. Dermatological examination showed multiple patches of alopecia, soft papules in the left perioral and periorbital areas, soft masses over the right axilla, trunk and in the lumbosacral region suggestive of lipomas. The CT scan of the brain revealed well-defined, hypodense lesions in both the cerebellar hemispheres suggestive of lipomas. The constellation of these findings led us to a diagnosis of encephalocraniocutaneous lipomatosis.
Keywords: Cutaneous, Cranial, Lipomas

Introduction

Encephalocraniocutaneous lipomatosis (ECCL) is an uncommon neurocutaneous syndrome, first described by Haberland and Perou in 1970.[1] This condition is also known as Fishman syndrome.[2] It is characterized by unilateral eye lesions in the form of choristomas and skin lesions like lipomas, connective tissue nevi and alopecia, in association with ipsilateral cerebral malformations and porencephalic cysts, seizures, mental retardation. Visceral lipomas, nevus sebaceous and other organoid nevi can also be seen.[1],[2] Since it′s first description in 1970, not more than 20 cases have been reported in the literature. To the best of our knowledge, this is probably the first case of its kind to be reported from the Indian subcontinent.

Case report

A 13-year-old boy was admitted with complaints of fever, vomiting and convulsions since ten days. He had a history of a ventriculo-peritoneal shunt done at the age of six months which was removed after a year due to infection. He had a history of mental retardation, delayed developmental milestones, mass in left eye, localized patches of alopecia on the scalp and frequent admissions.

The patient′s general examination revealed normal vital parameters. He was conscious, irritable and moving all four limbs. No neck stiffness or papilloedema were found. Cardiovascular and respiratory systems were within normal limits. Epigastric hernia was noted on per abdominal examination. Bulbar conjunctiva of left eye showed hypertrophy with a soft reddish limbal nodule encroaching on the cornea. Genital examination revealed left undescended testis with inguinal hernia and hydrocele of right spermatic cord. Dermatological examination showed multiple patches of smooth, hairless skin with normal markings but absent hair follicles on the scalp, three to four soft skin-colored papules in the left perioral and periorbital areas, soft masses over the right axilla and trunk and a transverse soft mass crossing the midline in the lumbosacral region suggestive of lipoma. Teeth, nails and mucosa were normal.

No abnormality could be detected on hematological and cerebrospinal fluid examination. The computerized tomography (CT) scan of the brain revealed well-defined, hypodense lesions in both the cerebellar hemispheres suggestive of lipomas. Scattered areas of calcification were noted in the right occipital and frontoparietal regions. Right porencephalic cyst was observed communicating with and distorting the right lateral ventricle, third ventricle and fourth ventricle. No other systemic abnormality was noted after investigations.

Histopathological examination of superior bulbar conjunctival mass showed adipose tissue in the submucosa, thick walled blood vessels and islands of cartilage typical of choristoma. On biopsy, the soft lumbosacral mass and perioral nodules showed excessive adipose tissue in the dermis suggestive of lipoma while periorbital nodules revealed connective tissue nevi.

Discussion

ECCL or Fishman syndrome is a rare neurocutaneous syndrome of unknown cause. The genetic mechanism underlying these complex birth defects has been hypothesized to result from the action of lethal autosomal dominant genes surviving by mosaicism.[3],[4] Although the exact embryologic defect responsible for ECCL is yet to be determined, the embryonic origin of the segmental choristomas and hamartomas is thought to be neural crest-derived mesectoderm.[5],[6] The hypothesis of the causal role of anomalous neural crest morphogenesis and migration in the development of these abnormalities is supported by a rare case report of neurocutaneous melanosis in association with ECCL.[7] Several other hypotheses like maternal viral infection during pregnancy, dysgenesis of cephalic neural crest and anterior neural tube have been proposed by previous authors.[8],[9],[10]

Although a spectrum of clinical features exists in the cases of ECCL reported so far, certain neurocutaneous findings appear in almost every patient. The abnormalities tend to be unilateral and only four cases with bilateral involvement have been encountered.[8],[10],[11],[12] In our patient, the cerebral parenchymal calcification, porencephalic cyst and hydrocele of spermatic cord were right-sided. The left-sided lesions were bulbar choristomas, connective tissue nevi of skin and eye, undescended testis and inguinal hernia, while alopecia and lipomas were bilateral. In all but two cases in the literature,[9],[11] lipomas and neurocutaneous findings were limited to the head and central nervous system. However, in our patient, the lipoma was noted crossing the midline in the lumbosacral area similar to the lesion described by Al Mefty et al .[11] Ocular abnormalities are supposed to be the most consistent feature of ECCL and the commonest findings are epibulbar choristomas and small skin nodules around the eyelids.[5],[10] Our patient had epibulbar choristoma in the right eye and bulbar conjunctival hypertrophy in both eyes. Histopathological examination of periocular nodules showed connective tissue nevi while perioral nodules revealed lipomas.

In ECCL, central nervous system (CNS) involvement appears to be variable with mild to severe mental retardation and developmental delay having been present in all but two cases reported in the literature.[13],[14] Seizures have been reported in all but three cases.[5],[12],[13] Our patient demonstrated all these manifestations. On radiological examination, porencephalic cyst was the most frequently reported anomaly as mentioned by Kodsi et al .[5] The other abnormalities reported were lateral ventricle cyst,[7] temporal lobe defect,[9] dilated right ventricle, corpus callosum agenesis[12] and CNS lipomatosis. The CT scan studies of our patient exhibited hypodense lesions in both cerebellar hemispheres suggestive of lipoma, porencephalic cyst and distortion of right lateral and third and fourth ventricles. An unusual finding in our patient was cerebellar and cerebral calcification which has been previously reported only by Haberland[9] in his original patient of ECCL. Shah et al[14] reported a 30-year-old woman with history of tinnitus and progressive hearing loss on her right side. The magnetic resonance imaging revealed multiple intracranial lipomas with schwanoma at the cerebellopontine angle and multiple lipomas over both upper arms. However, other cerebral and ophthalmic abnormalities were not observed in their patient. Also unique in our patient, were the additional features of left undescended testis and inguinal hernia, right-sided spermatic cord hydrocele and epigastric hernia which have not been specifically documented in previous reports.

Other diseases that superficially resemble ECCL and are often associated with neurological abnormalities are epidermal nevus syndrome, focal dermal hypoplasia, Proteus syndrome and Goldenhar syndrome. The presence of certain distinct cutaneous features and absence of CNS and/or subcutaneous lipomas associated with alopecia, distinguish all the above mentioned disorders from ECCL. ECCL is an important syndrome for the dermatologist to recognize on encountering intracranial and cutaneous lipomas in a patient with epibulbar choristomas and CNS abnormalities. The high frequency of neurological manifestations in these patients makes radiological imaging and neurological consultation mandatory. Histopathological examination of skin and eye lesions will further differentiate this condition from epidermal nevus syndrome, nevus sebaceous syndrome and Goltz syndrome.

There is no specific treatment for ECCL. In our patient, the management was symptomatic. Analgesics and anticonvulsants were used to control convulsions and headache while surgical correction of ocular defects and cutaneous lesions (lipomas and connective tissue nevi) was performed for cosmetic improvement. Thus, the unusual pattern of distribution, extensive CNS calcification and additional features set this patient apart from the previously reported cases of ECCL.

References
1.
Nosti-Martinez D, Castillo V, Duran-Mckinster C, Tamayo-Sanchez L, Orozco-Covarrubias ML, Ruiz-Maldonado R. Encephalocraniocutaneous lipomatosis: An uncommon neurocutaneous syndrome. J Am Acad Dermatol 1995;32:387-9.
[Google Scholar]
2.
Fishman MA, Chang CS, Miller JE. Encephalocraniocutaneous lipomatosis. Pediatrics 1978;61:580-2.
[Google Scholar]
3.
Happle R. Mosaicism in human skin. Arch Dermatol 1993;129:1460-70.
[Google Scholar]
4.
Happle R. Lethal gene surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987;16:899-906.
[Google Scholar]
5.
Kodsi SR, Bloom KE, Egber JE, Holland EJ, Cameron JD. Ocular and systemic manifestations of encephalocraniocutaneous lipomatosis. Am J Ophthal 1994;118:77-82.
[Google Scholar]
6.
Bamforth JS, Riccardi VM, Thisen P, Chitayat D, Friedman JM, Caruthers J, Hall JG. et al . Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature. Neurofibromatosis 1989;2:166-73
[Google Scholar]
7.
Ahmed I, Tope WD, Young TL, Miller DM, Bloom KE. Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis. J Am Acad Dermatol 2002:47:S196-200.
[Google Scholar]
8.
Alfonso I, Lopez PF, Cullen RF Jr, Martin-Jimenez R, Bejar RL. Spinal cord involvement in encephalocraniocutaneous lipomatosis. Pediatr Neurol 1986;2:380-4.
[Google Scholar]
9.
Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 1970;22:144-5.
[Google Scholar]
10.
Sanchez NP, Rhodes AR, Mandell F, Mihm MC. Encephalocraniocutaneous lipomatosis: A new neurocutaneous syndrome. Br J Dermatol 1981;104:89-96.
[Google Scholar]
11.
Al-Mefty O, Fox JL, Sakati N, Bashir R, Probst F. The multiple manifestations of the encephalocraniocutaneous lipomatosis syndrome. Childs Nerv Syst 1987;3:132-4.
[Google Scholar]
12.
Grimalt R, Ermacora E, Mistura L, Russo G, Tadini GL, Triulzi F, et al . Encephalocraniocutaneous lipomatosis: Case report and review of the literature. Pediatr Dermatol 1993;10:164-8.
[Google Scholar]
13.
Schlack HG, Skopnik H. Encephalocraniocutaneous lipomatose und linearer nevus sebaceous [Article in German]. Monatsschr Kinderheilkd 1985;133:235-7.
[Google Scholar]
14.
Shah J, Shrinivasa P, Gala B, Patkar D, Patankar T, Kale H. Multiple intracranial lipomas, hypogenetic corpus collasum and vestibular schwanoma: An unusual spectrum of MR findings in a patient. J Postgrad Med 1999;45:53-5.
[Google Scholar]

Fulltext Views
70

PDF downloads
5
Show Sections