Haberland Syndrome Associated With Calvarial Exostosis.

Abstract

A 13-year-old girl presented with a painless growth in the right eye since birth, which was gradually increasing in size. Antenatal and birth history was uneventful. Ophthalmic examination revealed best corrected visual acuity of 20/600 in the right eye and 20/20 in the left eye. Pertinent positive findings included bony prominence in the right temporoparietal region (Fig. 1A), nevus psiloliparus on the same side of scalp (Fig. 1B), and a right limbal dermoid (Fig. 1C). CT scan of the orbits showed a horn-like exostosis along the right temporoparietal suture (Fig. 2A). An ill-defined hypodensity in the right basitemporal epidural space displaying mixed fat signal intensity was seen suggestive of an intracranial lipoma, which was confirmed on MRI (Fig. 2B, C). On the basis of clinical and radiologic findings, a diagnosis of Haberland syndrome with calvarial exostosis was made. Patient was advised staged removal of the limbal dermoid with lamellar keratoplasty and lateral canthal skin tag excision followed by excision of calvarial exostosis in the second stage. Haberland syndrome or Encephalo Cranio Cutaneous Lipomatosis is characterized by intracranial, cutaneous, and ocular lipomas. Moog laid down the revised diagnostic criteria for diagnosis of Haberland syndrome in 2009. It includes major and minor criteria involving eye, skin, and central nervous system. The major criteria include choristoma of the eye, nevus psiloliparus, and intracranial lipoma.FIG. 1.: A, External photograph of the patient showing lateral canthal dermolipoma and prominence in the temporoparietal region. B, External photograph (oblique view) depicting area of scalp alopecia (nevus psiloliparus). C, Slit lamp photograph showing limbal dermoid.FIG. 2.: A, CT scan, 3D reconstructed image showing exostosis in the temporoparietal region. B, CT scan, axial view, showing lipomatous lesion in the basitemporal region (arrow). C, MRI brain confirming intracranial lipoma (arrow).MINOR CRITERIA Eye. Corneal and other anterior chamber anomalies, ocular and eyelid coloboma, and globe calcification. Skin. Possible nevus psiloliparus (a fatty tissue nevi characterized by localization on the scalp, a flat smooth surface and alopecia), patchy scarring alopecia, subcutaneous lipoma, focal skin aplasia or hypoplasia, and nodular skin tags. Central Nervous System. Abnormal intracranial vessels, arachnoid cyst or other meningeal abnormalities, complete or partial atrophy of hemisphere, porencephalic cyst, asymmetrically dilated ventricles or hydrocephalus, and intracranial calcification. A case is diagnosed as a “definitive case” if one of the following is present. All 3 systems involved with major criteria in ≥2. All 3 systems involved, proven NP or possible NP + ≥1 of minor criteria. Major criteria fulfilled in 2 systems 1 of which is proven NP or possible NP + ≥1 of minor criteria. A case is defined as “possible case” if one of the following is present. Two systems involved with major criteria in both. Two systems involved with proven or possible NP. Our case report fulfills the revised diagnostic criteria given by Moog of a “definite” case of Haberland syndrome with major criteria fulfilled in all the 3 major systems. Calvarial exostosis associated with Haberland syndrome has been reported only once. Ophthalmologists, dermatologists, pediatricians, and dysmorphologists should be aware of this rare association to apprehend an accurate diagnosis.