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Ocular ectodermal syndrome of epibulbar dermoid and cutaneous myxovascular hamartoma
  1. KAAN GÜNDÜZ,
  2. CAROL L SHIELDS,
  3. YELENA DOYCH
  1. Oncology Service, Wills Eye Hospital, Philadelphia, PA, USA
  2. Pediatric Ophthalmology Service
  3. Oncology Service
  1. BRUCE SCHNALL
  1. Oncology Service, Wills Eye Hospital, Philadelphia, PA, USA
  2. Pediatric Ophthalmology Service
  3. Oncology Service
  1. JERRY A SHIELDS
  1. Oncology Service, Wills Eye Hospital, Philadelphia, PA, USA
  2. Pediatric Ophthalmology Service
  3. Oncology Service
  1. Carol L Shields, MD, Oncology Service, Wills Eye Hospital, 900 Walnut Street, Philadelphia, PA 19107, USA

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Editor,—Ocular ectodermal syndrome is a congenital disorder manifesting classically with epibulbar dermoids and aplasia cutis congenita. Systemic abnormalities may also accompany ocular ectodermal syndrome.1-4 We describe the case of a newborn boy who presented with unilateral epibulbar dermoid and myxovascular hamartomas of the scalp. We believe that the association of epibulbar dermoid and myxovascular hamartoma of the skin represents an unusual variant of ocular ectodermal syndrome.

CASE REPORT

A newborn boy was noted at birth to have multiple serous purple blisters on the left scalp region, measuring 0.5 cm to 2.0 cm in base (Fig 1). Anterior fontanelle asymmetry was also recognised. The skin lesions were thought to be aplasia cutis congenita and a skin biopsy was performed. Histopathological examination of the biopsied skin revealed loose connective tissue in the dermis with an apparent absence of mature collagen, multiple blood vessels with thrombi, intimal hyperplasia and chronic inflammation, and few hair follicles, most consistent with pigmented myxovascular hamartoma.

Figure 1

Small purple blistered lesions on the scalp consistent with myxomatous hamartomas.

At the 2 week examination, a corneal lesion in the left eye was noted and the child was referred to the oncology service at Wills Eye Hospital for evaluation. On examination, the vision was fix light in both eyes. The anterior segment examination of the left eye revealed an elevated, pink vascular conjunctival mass in the superotemporal quadrant measuring 12.0 mm × 4.0 mm in base and extending onto the cornea. The epibulbar mass was not biopsied as it appeared consistent with a choristoma, most probably dermoid, and it demonstrated no change in appearance and no effect on visual acuity (Fig 2). The right eye and the fundi of both eyes were normal.

Figure 2

Oblong vascular corneoscleral dermoid in the superotemporal quadrant.

The patient was the product of a normal vaginal delivery and an uncomplicated pregnancy. His birth weight was 2863 g, length 49.7 cm, and occipitofrontal circumference (OFC) 43.2 cm. There was no maternal history of tobacco, alcohol, or drug use. The parents were healthy, non-consanguineous, and with no history of congenital skin or ocular disorders.

Based on the systemic and ocular findings, a diagnosis of ocular ectodermal syndrome was suspected. Brain computed tomography revealed a left parietal bone defect separate from the anterior fontanelle abnormality. No other calvarial, cerebral, or ventricular system anomalies were found.

COMMENT

Aplasia cutis congenita, which is the hallmark of ocular ectodermal syndrome, is the congenital absence of skin presenting heterogeneously as an ulcerated, eroded, scarred, or blistered area with alopecia, usually on the scalp near the vertex.1 Our patient was initially felt to have aplasia cutis congenita. However, pathological examination revealed pigmented myxovascular hamartoma of the scalp, characterised by the sporadic onset of asymmetric scalp lesions presenting with subcutaneous nodules. Our search of the literature failed to disclose any previous reports on the association of cutaneous myxovascular hamartoma and epibulbar dermoid, as described in our patient. We speculate that our case represents an extremely unusual variant of ocular ectodermal syndrome.

In addition to the epibulbar dermoid, other ocular findings in ocular ectodermal syndrome supported by the literature include corneal opacity and strabismus (Table 1).2 3 Besides the skin and eye findings, associated systemic findings in ocular ectodermal syndrome are numerous and can occur in several systems including the musculoskeletal system (Table 1) Cardiac anomalies in ocular ectodermal syndrome include atrial septal defect and neurological findings include psychomotor retardation, and seizures.1-5 Although the skin and eye findings are both relatively innocuous,3knowledge of the more serious associated systemic disorders, such as seizures, psychomotor retardation and various congenital defects, should be recognised.1 In addition to the skin and ocular findings, our patient had parietal bone defect and anterior fontanelle asymmetry.

Table 1

Clinical findings documented in six reported patients with the ocular ectodermal syndrome

We believe that the association of atypical epibulbar dermoid and myxovascular hamartoma of the skin represents a different and extremely unusual variant of ocular ectodermal syndrome.

Acknowledgments

Supported by the Paul Kayser International Award of Merit in Retina Research, Houston, TX (J Shields) and Eye Tumor Research Foundation, Philadelphia, PA.

References

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