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CASE REPORT
Year : 2021  |  Volume : 1  |  Issue : 1  |  Page : 85-87

A rare case of Haberland syndrome


Department of Ophthalmology, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India

Date of Submission07-Jun-2020
Date of Acceptance14-Aug-2020
Date of Web Publication31-Dec-2020

Correspondence Address:
Dr. Prafulla K Maharana
R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi - 110 029
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1786_20

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  Abstract 


A 10-month-old male child presented with a mass lesion in the left eye which was present since birth as noted by the parents. It was non-progressive. He also had left eye upper eyelid coloboma and a single nodular lesion on the left zygomaticotemporal region along with multiple nodular lesions on the scalp with non-scarring alopecia. A pediatric consultation was sought for systemic associations and a diagnosis of Haberland syndrome was made. Surgical debulking of the ocular lesion was done along with optical correction and amblyopia therapy for visual rehabilitation.

Keywords: Coloboma, Haberland, lipodermoid


How to cite this article:
Asif MI, Goel S, Yadav MA, Singh V, Maharana PK. A rare case of Haberland syndrome. Indian J Ophthalmol Case Rep 2021;1:85-7

How to cite this URL:
Asif MI, Goel S, Yadav MA, Singh V, Maharana PK. A rare case of Haberland syndrome. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Mar 3];1:85-7. Available from: https://www.ijoreports.in/text.asp?2021/1/1/85/305509



Haberland syndrome or Fishman syndrome[1] or encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital, sporadic neurocutaneous disorder. It is a type of ecto-mesodermal dysgenesis. The molecular basis of ECCL remains unknown. There is no gender or geographic predilection. The widely accepted hypothesis is somatic mosaicism caused by lethal autosomal mutations. Cases of ECCL have rarely been reported in the literature.


  Case Report Top


A 10-month-old male child presented to a tertiary care center with a mass lesion in the left eye which was present since birth [Figure 1]a. It was non-progressive. He also had a defect in the left eye upper eyelid and a single nodular lesion on the left side zygomaticotemporal region. Antenatal history was uneventful. It was a full-term normal vaginal delivery. The perinatal and postnatal period were uneventful. The child was immunized at birth.
Figure 1: Clinical photograph of the child's (a) face showing bilobular mass lesion along left eye upper lid along with dermoid involving inferotemporal limbus and skin horn at the left zygomaticotemporal region (b) head showing areas of non-scarring alopecia suggestive of nevus psiloliparus

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On systemic examination, the child had multiple nodular lesions on the scalp with non-scarring alopecia [Figure 1]b. There was a history of myoclonic seizures at the age of 1 month. On ocular examination (examination under anesthesia), there was an upper eyelid coloboma with a soft bilobed, nodular, pedunculated mass on the lateral aspect of the upper eyelid. There was a limbal mass extending from 2–6 o'clock with associated corneal scarring. Besides, there was bulbar conjunctival hypertrophy and superficial corneal vascularization. Microscope-integrated optical coherence tomography (MiOCT) was performed which revealed the extension of mass lesion up to a one-third depth of cornea without any extension into the anterior chamber [Figure 2] and ultrasound biomicroscopy (UBM) also confirmed the same. Ultrasonography (USG) orbit did not reveal any abnormality. Magnetic resonance imaging (MRI) brain revealed normal study, however, MRI of orbit revealed nodules in the lateral canthus of the left eye in the pre-septal compartment. The child was referred to the pediatric department for a complete systemic evaluation. The patient was diagnosed as Haberland syndrome.
Figure 2: Intraoperative- Microscope integrated OCT-guided examination of lipodermoid showing involvement of anterior one-third of the cornea

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Excision of the lipodermoid mass from the ocular surface [Figure 3]a along with debulking of the mass over the zygomaticotemporal region was performed [Figure 3]b. Postoperatively, the child was started on eye drop carboxymethylcellulose 0.5% four times a day with antibiotic ointment for local application. The parents were counseled about shave excision for limbal dermoid and possible need of tectonic graft and residual corneal scar. However, they decided to go for spectacle correction first and were educated regarding the need for optical correction with amblyopia therapy. The histopathology of the excised lateral canthal mass was suggestive of a lipodermoid and the skin horn of a skin tag [Figure 4]. On follow-up at 2 weeks, the skin sutures were removed. The wound healed with minimal scarring. At last follow-up, the child was comfortable with glasses with a binocular Cardiff visual acuity of 6/15 at 50 cm. Since the refractive error was almost similar in both eyes, the child was prescribed glasses for a month, later, planned for repeat Cardiff and if required patching (1:1) would be advised. Parents were made aware of the same.
Figure 3: Postoperative- (a) Postoperative day 1 after excision of skin horn at the left zygomaticotemporal region; (b) Postsurgical debulking of dermolipoma

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Figure 4: Histopathological examination of the excised tissue revealing lipoodermoid

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  Discussion Top


Haberland syndrome is a rare congenital neurocutaneous disorder. It is a type of ecto-mesodermal dysgenesis. It was first described in 1970, by Haberland and Perou and they coined the term ECCL.[2] There is no gender or geographic predilection. Cases of ECCL have rarely been reported in the literature. Somatic mosaicism caused by lethal autosomal mutations is the most widely accepted hypothesis. Dysgenesis of the anterior neural tube and cephalic neural crest is thought to occur in the embryo-pathogenesis (4–5th week). Neural crest derivatives, dermis, and hypodermis of the face and neck, dermal bones of the skull, head mesenchyme, trunco-conal septum, odontoblasts, and melanocytes are affected by ECCL.

The classical triad of this syndrome are cutaneous involvement (nevus psiloliparus, subcutaneous lipomas in the frontotemporal region, focal dermal hypoplasia or aplasia, small nodular tags on the eyelid or at outer canthal area), ocular involvement (choristomas, colobomas, corneal or anterior chamber abnormalities, and globe calcification) and central nervous system (CNS) involvement (intracranial or intraspinal lipomas, abnormal intracranial vessels, complete or partial atrophy of a hemisphere, asymmetrically dilated ventricles or hydrocephalus, arachnoid cyst, porencephalic cyst, and calcification). Nevus psiloliparus which is a hairless fatty nevus with non-scarring alopecia is the dermatological hallmark of the disease which was characteristically seen in our patient.[3]

Various differentials for our case included oculocerebrocutaneous syndrome, Goldenhar syndrome, Proteus syndrome, epidermal nevus syndrome, and CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies). In oculocerebrocutaneous syndrome, the diagnostic criteria include CNS cyst or hydrocephalus, microphthalmia with cyst and focal dermal hypoplasia or aplasia. Goldenhar syndrome shares the same features as choristomas, skin tags, colobomas but Goldenhar syndrome classically has associated auricular and vertebral involvement. Proteus syndrome is characterized by a progressive course of asymmetric overgrowth of bones, soft tissues, and vascular malformations. Epidermal nevus syndrome shares the ocular features with ECCL, but the epidermal nevi commonly follow the  Lines of Blaschko More Details.

Our case did not have any CNS involvement. Our patient had two major systems (nevus psiloliparus and ocular choristoma) involvement with associated minor skin changes like lipodermoid in the temporal region, skin tags, aplastic skin lesions of the scalp which led to our diagnosis of Haberland's syndrome (Moog's revised diagnostic criteria).[4],[5] Most of the patients' outcomes are decided by the degree of CNS involvement, therefore, screening for these conditions is crucial during follow-ups to look for tumors like extra-nasopharyngeal angiofibroma, glioma, and astrocytoma.[6] There is no definitive treatment for ECCL. Ophthalmic management is limited to dermoid and lipodermoid excision for cosmesis along with refraction and amblyopia management. In our patient, even though a limbal dermoid was present, it was not involving the visual axis neither causing significant astigmatism. Hence, we decided to rehabilitate the child with refractive correction.


  Conclusion Top


All cases of limbal dermoid should also be evaluated systemically to look for associations. A limbal dermoid can cause irregular astigmatism and amblyopia in pediatric age and may not require surgical intervention, only refractive correction may be sufficient. Haberland syndrome is a rare syndrome causing limbal dermoid, but it should be kept in the mind especially if associated with dermatological features like nevus psiloliparus and must be referred for detailed neuroimaging studies to look for CNS involvement.

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Fishman MA, Chang CS, Miller JE. Encephalocraniocutaneous lipomatosis. Pediatrics 1978;61:580-2.  Back to cited text no. 1
    
2.
Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 1970;22:144-55.  Back to cited text no. 2
    
3.
Happle R, Küster W. Nevus psiloliparus: A distinct fatty tissue nevus. Dermatology (Basel) 1998;197:6-10.  Back to cited text no. 3
    
4.
Hunter AGW. Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes? Am J Med Genet A 2006;140:709-26.  Back to cited text no. 4
    
5.
Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet 2009;46:721-9.  Back to cited text no. 5
    
6.
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. 6
    


    Figures

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



 

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