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Involutional Type of Entropion in a Child with Cutis Laxa

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Involutional Type of Entropion in a Child with Cutis Laxa 1432 Br J Ophthalmol 2000;84:1432–1438 Br J Ophthalmol: first published as 10.1136/bjo.84.12.1432 on 1 December 2000. Downloaded from LETTERS TO THE EDITOR Involutional type of entropion in a child with cutis laxa EDITOR,—The diVuse 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 mani- festation of the disease. CASE REPORT Our patient, who is nowa4yearoldboyand Figure 2 Eyelid tissue stained for elastic fibres showing marked granular degeneration of the elastic the third child to a normal first degree cousin fibres. Aldehyde-fuscin, ×400. couple, was noted to have redundant skin and a hoarse cry at the age of 3 months. Skin biopsy Surgical correction was carried out using a arrangements; hence the term “generalised was consistent with cutis laxa (elastin stain lateral tarsal strip in addition to two full elastolysis”. showed focal thickening of the elastic fibres thickness lid sutures. A small piece of resected Goltz and coworkers suggested an imbalance with tapered ends). His 7 month old sister was eyelid tissue was sent for pathological examina- between the circulating pancreatic elastase and also diagnosed as having cutis laxa at 3 months tion. its inhibitor (pancreatic elastase inhibiting sub- of age. Her ophthalmic examination revealed Staining for elastic tissue revealed marked stance, EIS), with a diminution of the latter in no abnormalities. Otherwise, the family history granular degeneration of the elastic fibres patients with CL.6 Recently, frame shift muta- was negative for such skin problems. (Fig 2). There was also a decreased number of tions in exon 30 of the elastin gene were identi- Recently, he presented to our clinic with a 2 elastic fibres, especially in the superficial fied in three aVected individuals.7 month history of a red right eye. Examination dermis. The reported ophthalmic manifestations of revealed an entropion of the right lower lid Postoperatively, the lower lid position was CL include ectropion, blepharochalasis, epi- (Fig 1A). The lid position corrected tempo- normal at 12 months’ follow up. canthic folds, hypertelorism, bilateral macular rarily upon manual eversion only to re-invert colobomas, fine retinal pigmentary changes,5 8 shortly after. The lids were hyperextensible COMMENT and bilateral orbital fat prolapse. The case but inelastic. Manual eversion of the lower lid Cutis laxa was first described by Alibert in reported here presents a new manifestation of resulted in significant fat prolapse into the for- 1832.2 The rare syndrome of cutis laxa is a the disease—namely, lower lid entropion, with nix (Fig 1B). Slit lamp examination revealed all the criteria of the involutional type. Several heterogeneous group of disorders character- http://bjo.bmj.com/ moderate inferior corneal staining and injec- ised by inappropriate laxity of the skin which anatomical abnormalities have been identified tion of the medial and inferior bulbar appears loosely folded to form a cuticular as causative factors in involutional entropion, conjunctiva. Fundus examination was normal. layer larger than the body it envelopes.1 This including (a) horizontal lid laxity, (b) dehis- There was significant skin laxity over the eye- leads to the production of a typical grotesque cence or attenuation of lower lid retractors, (c) lids, cheeks, neck, and trunk. facies and the appearance of premature overriding of the preseptal over the pretarsal ageing.3 The skin is hyperextensible but orbicularis muscle, and (d) enophthalmos, the inelastic. These skin changes are frequently role of which has been recently proved to be associated with systemic abnormalities, par- insignificant.9 1 ticularly of the lungs and heart. There may be Both lid lamellae and the canthal tendons on September 30, 2021 by guest. Protected copyright. ophthalmic manifestations. contain elastic fibres.10 Histopathologically, the Cutis laxa may be inherited in an autosomal eyelid specimen showed significant granular dominant or recessive manner.4 The clinical degeneration in addition to a decreased features and prognosis diVer considerably in number of the elastic fibres, thus accounting for the two forms.3 In the autosomal dominant the horizontal lid laxity present in our patient. variety, complications are mild, and the patients In addition, the lower lid retractors also contain have a normal life span. Conversely, in the elastic fibres.10 The shallowness of the lower autosomal recessive type, there is a high fornix and the fat herniation into it upon incidence of illness and death in childhood manual inferior lid traction confirm the laxity from pulmonary and cardiac involvement. Fur- of the lid retractors and the orbital septum sec- thermore, autosomal recessive forms of CL can ondary to the disorder. These factors, horizon- be divided into two types: CL with emphysema tal lid and retractor laxity, allowed for the over- and CL with retarded development.5 The first riding of preseptal over pretarsal orbicularis disorder usually leads to death within the first and the inward rotation of the lid margin in a years of life from cardiopulmonary complica- fashion similar to that which occurs with invo- tions. The second disorder is not associated lutional entropion in elderly people. with pulmonary disease, but there are many In summary, cutis laxa is a systemic disease systemic defects, among which gross delay in that relates to the presence of abnormal elastic motor development is the most important. fibres throughout the body. Involutional en- Extensive analysis of the skin and other tropion ina4yearoldchild is an unusual organs of patients with CL has demonstrated finding that was associated with marked laxity defective elastic fibres throughout the body.6 of the eyelid tissues present in cutis laxa. This defect consists of a reduction in the RIAD N MA’LUF Figure 1 (A) Entropion of the right lower lid. amount and size of the elastic fibres and NICOLA G GHAZI (B) A shallow lower fornix with significant fat granular degeneration and fragmentation of Department of Ophthalmology, American University of herniation upon manual inferior lid traction. the fibres with disruption of their normal Beirut- Medical Center, 113–6044 Beirut, Lebanon www.bjophthalmol.com Letters 1433 Br J Ophthalmol: first published as 10.1136/bjo.84.12.1432 on 1 December 2000. Downloaded from MOUEEN N BU GHANIM In our opinion, this case implies that unilat- AYMANNTAWIL eral arcus lipoides corneae can occur in Department of Pathology morphologically normal eyes with solely Correspondence to: Dr Riad Ma’luf relative ocular hypotension. [email protected] Accepted for publication 8 May 2000 Supported by Deutsche Forschungsgemeinschaft, Bonn, Germany (SFB 539, “Glaukome einschliess- lich Pseudoexfoliationssyndrom”). 1 Ostlere LS, Pope FM, Holden CA. Cutis laxa complicating Ehlers–Danlos syndrome type II. ISABEL M VELTEN Clin Exp Dermatol 1996;21:135–7. WIDO M BUDDE 2 Beighton P. The dominant and recessive forms of GOTTFRIED O H NAUMANN cutis laxa. J Med Genet 1972;9:216– 21. Department of Ophthalmology and University Eye 3 Cashman ME. Cutis laxa. Proc Roy Soc Med Hospital, Friedrich-Alexander University of 1957; 50:719. 4 Pope FM. Cutis laxa. In: Beighton P, ed. Erlangen-Nürnberg, Schwabachanlage 6, D-91054 Mckusick’s heritable disorders of connective tissues. Erlangen, Germany 5th ed. Baltimore: Mosby-Year Book, 1993:253. Correspondence to: Dr Isabel M Velten, Augenklinik 5 Agha A, Sakati NO, Higginbottom MC, et al. mit Poliklinik der Universität Erlangen-Nürnberg, Two forms of cutis laxa in the newborn period. Schwabachanlage 6, D-91054 Erlangen, Germany Acta Paediatr Scand 1978;67:775–80. 6 Goltz RW, Hult A, Goldfarb M, et al. Cutis laxa. [email protected] A manifestation of generalized elastolysis. Arch Accepted for publication 18 May 2000 Derm 1965;92:373–87. 7 Zhang MC, He L, Giro M, et al. Cutis laxa aris- ing from frameshift mutations in exon 30 of the 1 Barchiesi BJ, Eckel RH, Ellis PP. The cornea and disorder of lipid metabolism. elastin gene (ELN). J Biol Chem 1999;274:981– Surv Ophthalmol 6. 1991;36:1–22. 8 Greaney MJ, Richards AB. Bilateral orbital fat 2 Naumann GOH, Küchle M. Unilateral arcus lipoides corneae with traumatic cyclodialysis in prolapse in cutis laxa. Br J Ophthalmol 1998;82: 713–14. two patients. Arch Ophthalmol 1989;107:1121– 9 Collin JRO, Rathbun JE. Involutional entropion. 2. 3 Naumann GOH, Küchle M. Unilateral corneal Arch Ophthalmol 1978;96:1058–64. Figure 2 (A) Narrow arcus lipoides (arrow) 10 Bron AJ, Tripathi RC, Tripathi BJ. In: V most pronounced superiorly and inferiorly right arcus lipoides [letter]. Lancet 1993;342:1185. Wo l ’s 4 Capoferri C, Pissarello R, Paganoni G. Unilateral anatomy of the eye and orbit. 8th ed. London: eye. (B) Increased episcleral vascularisation due Chapman and Hall Medical, 1997:35, 148. corneal arcus and ocular hypotony. Can J to the Sturge–Weber syndrome and a filtering bleb Ophthalmol 1994;29:155–6. since age of 6 years. No arcus lipoides left eye. 5 Smith JL, Susac JO. Unilateral arcus senilis: sign of occlusive disease of the carotid artery. JAMA Unilateral arcus lipoides corneae with 1973;226:676. contralateral Sturge–Weber syndrome Visual acuity was 20/15 right eye and 20/30 6 Bagla SK, Golden RL. Unilateral arcus corneae left eye, intraocular pressure 16 mm Hg right senilis and carotid occlusive disease. JAMA 1975;233:450. EDITOR,—Arcus lipoides corneae usually oc- eye and 20 mm Hg left eye. The right eye dis- 7 Sugimura G. Unilateral corneal arcus. Arch Oph- curs bilaterally and symmetrically.1 Pro- closed a definite yellow-whitish arcus lipoides thalmol 1990;108:780–1.
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