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Editor,—The diffuse elastic tissue disease called cutis laxa (CL) is a serious, even lethal systemic illness, involving not only the skin but connective tissues throughout the body.1 The skin hangs in loose folds, producing the appearance of premature ageing. Internal manifestations such as emphysema, ectasia of the aorta, and multiple hernias are usually present.
We report a child with cutis laxa, who presented with an unusual ophthalmic manifestation of the disease.
Our patient, who is now a 4 year old boy and the third child to a normal first degree cousin couple, was noted to have redundant skin and a hoarse cry at the age of 3 months. Skin biopsy was consistent with cutis laxa (elastin stain showed focal thickening of the elastic fibres with tapered ends). His 7 month old sister was also diagnosed as having cutis laxa at 3 months of age. Her ophthalmic examination revealed no abnormalities. Otherwise, the family history was negative for such skin problems.
Recently, he presented to our clinic with a 2 month history of a red right eye. Examination revealed an entropion of the right lower lid (Fig 1A). The lid position corrected temporarily upon manual eversion only to re-invert shortly after. The lids were hyperextensible but inelastic. Manual eversion of the lower lid resulted in significant fat prolapse into the fornix (Fig 1B). Slit lamp examination revealed moderate inferior corneal staining and injection of the medial and inferior bulbar conjunctiva. Fundus examination was normal. There was significant skin laxity over the eyelids, cheeks, neck, and trunk.
Surgical correction was carried out using a lateral tarsal strip in addition to two full thickness lid sutures. A small piece of resected eyelid tissue was sent for pathological examination.
Staining for elastic tissue revealed marked granular degeneration of the elastic fibres (Fig 2). There was also a decreased number of elastic fibres, especially in the superficial dermis.
Postoperatively, the lower lid position was normal at 12 months' follow up.
Cutis laxa was first described by Alibert in 1832.2 The rare syndrome of cutis laxa is a heterogeneous group of disorders characterised by inappropriate laxity of the skin which appears loosely folded to form a cuticular layer larger than the body it envelopes.1 This leads to the production of a typical grotesque facies and the appearance of premature ageing.3The skin is hyperextensible but inelastic. These skin changes are frequently associated with systemic abnormalities, particularly of the lungs and heart.1 There may be ophthalmic manifestations.
Cutis laxa may be inherited in an autosomal dominant or recessive manner.4 The clinical features and prognosis differ considerably in the two forms.3 In the autosomal dominant variety, complications are mild, and the patients have a normal life span. Conversely, in the autosomal recessive type, there is a high incidence of illness and death in childhood from pulmonary and cardiac involvement. Furthermore, autosomal recessive forms of CL can be divided into two types: CL with emphysema and CL with retarded development.5 The first disorder usually leads to death within the first years of life from cardiopulmonary complications. The second disorder is not associated with pulmonary disease, but there are many systemic defects, among which gross delay in motor development is the most important.
Extensive analysis of the skin and other organs of patients with CL has demonstrated defective elastic fibres throughout the body.6 This defect consists of a reduction in the amount and size of the elastic fibres and granular degeneration and fragmentation of the fibres with disruption of their normal arrangements; hence the term “generalised elastolysis”.
Goltz and coworkers suggested an imbalance between the circulating pancreatic elastase and its inhibitor (pancreatic elastase inhibiting substance, EIS), with a diminution of the latter in patients with CL.6 Recently, frame shift mutations in exon 30 of the elastin gene were identified in three affected individuals.7
The reported ophthalmic manifestations of CL include ectropion, blepharochalasis, epicanthic folds, hypertelorism, bilateral macular colobomas, fine retinal pigmentary changes,5 and bilateral orbital fat prolapse.8 The case reported here presents a new manifestation of the disease—namely, lower lid entropion, with all the criteria of the involutional type. Several anatomical abnormalities have been identified as causative factors in involutional entropion, including (a) horizontal lid laxity, (b) dehiscence or attenuation of lower lid retractors, (c) overriding of the preseptal over the pretarsal orbicularis muscle, and (d) enophthalmos, the role of which has been recently proved to be insignificant.9
Both lid lamellae and the canthal tendons contain elastic fibres.10 Histopathologically, the eyelid specimen showed significant granular degeneration in addition to a decreased number of the elastic fibres, thus accounting for the horizontal lid laxity present in our patient. In addition, the lower lid retractors also contain elastic fibres.10 The shallowness of the lower fornix and the fat herniation into it upon manual inferior lid traction confirm the laxity of the lid retractors and the orbital septum secondary to the disorder. These factors, horizontal lid and retractor laxity, allowed for the overriding of preseptal over pretarsal orbicularis and the inward rotation of the lid margin in a fashion similar to that which occurs with involutional entropion in elderly people.
In summary, cutis laxa is a systemic disease that relates to the presence of abnormal elastic fibres throughout the body. Involutional entropion in a 4 year old child is an unusual finding that was associated with marked laxity of the eyelid tissues present in cutis laxa.