Bilateral Congenital Entropion with Cutis Laxa

Yasser H. Al-Faky, M.D., F.R.C.S.,* Mustafa A. Salih, M.D.,† Mohammed Mubarak, Ph.D.,‡and Ammar C. Al-Rikabi, M.D., M.R.C.Path.‡

Departments of *Ophthalmology, †Pediatrics (Neurology), and ‡Pathology, College of Medicine, King SaudUniversity, Riyadh, Saudi Arabia

Abstract: Cutis laxa is a rare connective tissue disorder character-ized by redundant and pendulous skin due to a defect in the elastic fibernetwork. Two cases of entropion associated with cutis laxa have beenreported, although entropion was due to elongation of the anteriorlamella or horizontal lid laxity. Thorough systemic and ophthalmicevaluations were performed, as well as chart review for the perinatalperiod. Surgical correction of entropion through posterior tarsotomywas done. An infant boy with dysmorphic features and furrowing of theskin of the entire body without hyperelasticity, which is typical for cutislaxa, presented with bilateral congenital entropion. We report here forthe first time a different etiology of congenital entropion with cutis laxa:the eyelashes were abnormally directed due to the unusual location oftheir roots, which were embedded within the tarsus. Moreover, this isthe only case of cutis laxa with congenital entropion involving bothupper and lower eyelids. Congenital entropion can be associated withcutis laxa. Although elongation of the anterior lamella and horizontal lidlaxity predispose to such an entropion, abnormal location of the rootsof the eyelashes might be encountered and marginal eyelid rotationsurgery is indicated.

Cutis laxa is a rare acquired or congenitaldisorder of the connective tissue characterized byhyperextensible but inelastic skin due to a defect inthe elastic fiber network (1,2). Despite its predom-inant skin manifestation, systemic involvement ofthe lungs and cardiovascular, gastrointestinal, andgenitourinary systems has also been reported (2).Entropion is known to be associated with cutis laxadue to elongation of the anterior lamella orhorizontal lid laxity, but congenital entropion with

abnormal location of the hair follicles has not beenreported.

CASE REPORT

A full-term infant boy, the result of a consanguineousmarriage, an uneventful pregnancy, and a spontane-ous delivery, presented at the age of 7 months withphotophobia and abnormal-looking eyelids. Ophthal-mic evaluation revealed severe bilateral upper and

Address correspondence to Yasser H. Al-Faky, M.D., F.R.C.S.,Ophthalmology Department, College of Medicine, King SaudUniversity, PO Box 245, Riyadh 11411, Saudi Arabia, or e-mail:alfaky@gmail.com.

DOI: 10.1111/pde.12255

e82 © 2014 Wiley Periodicals, Inc.

Pediatric Dermatology Vol. 31 No. 3 e82–e84, 2014

lower eyelid entropion with secondary trichiasis(Fig. 1) caused by abnormal location of the roots ofthe eyelashes, which were embedded within the tarsus(Fig. 2). The patient had an otherwise normal ocularexamination. He underwent bilateral entropion repairthrough posterior tarsotomy. Nevertheless, at the ageof 18 months he developed large-angle esotropia,�1.75 diopter sphere cycloplegic refraction in botheyes, and bilateral retinal pigment changes.

Systemic evaluation revealed dysmorphic featuresin the form of furrowing of the skin of the entire bodywithout hyperelasticity, particularly in the neck,axillae, and groin; sunken globes; deformed nose;maxillary hypoplasia; long philtrum; cleft palate;pectus excavatum with dilated veins; undescendedtestes; and posteriorly located anal orifice. He had ahistory of pyloric stenosis, treated by pyloromyoto-my, at the age of 1 month. He also had an atrial septaldefect, nephrocalcinosis, and recurrent lower respira-tory infections requiring admission on two occasions.

Skin biopsy revealed a significant reduction in thedermal elastic fibers (Fig. 3), which confirmed the diag-nosis of cutis laxa. He was the second child. There was nohistory of similar features in any of the other familymembers.

DISCUSSION

Cutis laxa is a rare congenital or acquired connectivetissue disorder manifested as loose and redundantskin folds due to abnormal skin elasticity (1,2). Theinherited form of cutis laxa is uncommon andfrequently autosomal recessive, but it can also beinherited as autosomal dominant or X-linked (3). Ourpatient has characteristic skin features that make theclinical diagnosis of cutis laxa disorder easy. Never-theless, the precise diagnosis of the inherited subcat-egory is difficult because of overlapping clinicalspectra with variable severity and organ involvement(3). The major helpful diagnostic criteria are detectionof abnormal elastin fibers in a histopathologic exam-ination or mutations in elastin or fibulin genes. Thechild’s skin biopsy showed a reduction of the elasticfibers in the subepithelial layer. Histopathologicexamination may be negative in cutis laxa and theunderlying genetic etiology may remain unknown,which can make a precise diagnosis challenging (3).

We report herein the third case of entropion withcongenital cutis laxa in the English-language peer-reviewed literature, but here it has a different etiology,and all eyelids are involved. Shah-Desai et al (4)reported bilateral upper eyelid entropion in a 5-month-old infant with cutis laxa secondary to elon-gation of the anterior lamella that was treated usinganterior lamellar repositioning. Similarly, Ma’luf et al(5) reported a case of right lower eyelid entropion in a4-year-old child with cutis laxa due to horizontal lidlaxity treated using a lateral tarsal strip. We describe adifferent etiology of entropion with cutis laxa. The

Figure 1. Bilateral severe entropion of both upper andlower eyelids.

Figure 2. Everted eyelids show abnormal location of theeyelash roots, which are embedded within the tarsus(arrows).

Figure 3. Photomicrography shows a significantreduction in the dermal elastic fibers. The arrowheadpoints toward a remaining elastic fiber (elastic van Giesonstain, 9200).

Al-Faky et al: Congenital Entropion with Cutis Laxa e83

eyelashes were abnormally directed due to the unusuallocation of their roots, which were embedded withinthe tarsus. The normally developed tarsal plate hascollagen fibers with scattered elastic fibers intermin-gled with the meibomian glands (6). It is tempting topostulate that the genetic molecular defect and lack ofelastic fibers might lead to a predisposition to abnor-mal posterior migration of the hair follicles into thetarsus due to less-compact tarsal lamellae duringembryogenesis.

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2. Andiran N, Sarikayalar F, Sarac�lar M et al. Autoso-mal recessive form of congenital cutis laxa: more thanthe clinical appearance. Pediatr Dermatol 2002;19:412–414.

3. Morava E, Guillard M, Lefeber DJ et al. Autosomalrecessive cutis laxa syndrome revisited. Eur J HumGenet2009;17:1099–1110.

4. Shah-Desai SD, Collins AL, Tyers AG. Surgicalcorrection of entropion and excess upper eyelid skinin congenital cutis laxa: a case report. Orbit 1999;18:53–58.

5. Ma’luf R, Ghazi N, Ghanim M et al. Involutional typeof entropion in a child with cutis laxa. Br J Ophthalmol2000;84:1432–1438.

6. Kocaoglu FA, Katircioglu YA, Tok OY et al. Thehistopathology of involutional ectropion and entropion.Can J Ophthalmol 2009;44:677–679.

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