Bilateral orbital fat prolapse in cutis laxa
- Mr Greaney, Department of Ophthalmology, Queen Alexandra Hospital, Cosham, Portsmouth PO6 3LY.
- Accepted 21 January 1998
Editor,—The association of ocular abnormality with cutis laxa has been described only in de Barsey syndrome, a rare condition in which cutis laxa is associated with corneal clouding, mental retardation, and athetosis.1 2 Orbital fat prolapse is not uncommon and occasionally occurs bilaterally, usually in older patients. We describe the occurrence of bilateral orbital fat prolapse at an unusually young age in a patient with autosomal recessive cutis laxa.
CASE REPORT
A 37 year old woman with autosomal recessive cutis laxa and characteristic facies (Fig 1) presented with a soft, mobile, pale yellow mass beneath the temporal bulbar conjunctiva of each eye, but more prominently on the right (Figs 1 and 2). The overlying conjunctiva was mobile and neither mass had a visible posterior limit. There was no history of previous periocular pathology, trauma, or surgery and ocular examination was otherwise normal.
Characteristic facies of cutis laxa in a 37 year old woman showing a prematurely aged appearance, lax redundant skin, downward slanting palpebral fissures, and a broad flat nose. Prolapsed orbital fat is visible beneath temporal subconjunctiva of the right eye.
Prolapsed orbital fat beneath temporal bulbar conjunctiva of the right eye. The anterior edge is indicated by arrows.
Incisional biopsy of each mass was performed under local anaesthetic to relieve irritation. The tissue was located in the sub-Tenon’s space and continuous posteriorly with intraconal orbital fat. Histological examination revealed normal adipose tissue without dermal elements.
COMMENT
Cutis laxa (generalised elastolysis) is characterised clinically by generalised lax pendulous skin which hangs in redundant folds and recoils only slowly after stretching.2 3 Histologically, there is sparsity, fragmentation, and aggregation of elastic fibres in the dermis.2 3 Possible pathogenic mechanisms are increased tropoelastin degradation and reduced elastin production—skin fibroblasts have diminished mRNA for elastin in some patients.2
Cutis laxa may be inherited (autosomal dominant or recessive) or acquired.2 In the commoner, recessive form, characteristic facies have downward slanting palpebral fissures, a broad flat nose, sagging cheeks, and large ears producing a bloodhound or prematurely aged appearance. Herniae, diverticula, pulmonary emphysema, cor pulmonale, and aortic aneurysm are important complications resulting from abnormal elastic fibres. Acquired forms of cutis laxa may follow inflammatory skin disease or may be associated with hypersensitivity reactions, multiple myeloma, systemic lupus erythematosis, amyloidosis, or maternal penicillamine therapy.2
Tenon’s capsule normally separates intraconal and extraconal orbital fat from sclera. Surgical or traumatic dehiscence of the capsule more than 10 mm from the limbus may allow forward prolapse of intraconal fat beneath Tenon’s capsule.4 In the elderly, fat prolapse may occur without such an antecedent event and is more frequently located superotemporally.4 5 Orbital fat prolapse is usually diagnosed clinically,5 but may be mistaken for a dermolipoma, dermoid cyst, lacrimal gland tumour, infiltration or granuloma, extraocular muscle enlargement, or an orbital lymphoid proliferation.6 7
The largest case series of orbital fat prolapse reports 15 patients aged between 49 and 94 years (average 65 years) of whom 33% were affected bilaterally.5 The case we report is significantly younger. Although the occurrence bilaterally of this finding at a young age may be coincidental, it suggests that abnormal elastin in Tenon’s capsule allowed it to dehisce, creating a route between intraconal fat and the sub-Tenon’s space. This report suggests an association between cutis laxa and orbital fat prolapse.
