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Successful Correction of Ichthyosis-related Ectropion by Autografts

Dermatologic Therapy

July 2020
33(1)

DOI:10.1111/dth.13851

Authors:

Remzi Karadag

Istanbul Medical University

Neslihan Sevimli

Fatih Sultan Mehmet Training and Research Hospital

Ayse Serap Karadag

Istanbul Medeniyet Universitesi

Uwe Wollina

Städtisches Klinikum Dresden

Ectropion is a rather frequent complication of ichthyosis with negative functional and esthetic impact. Lid surgery can provide significant improvement. We report on a series of four ichthyosis patients with ongoing bilateral eye problems despite intense medical treatment (mean age 27.8 ± 14.1 years). All patients suffered from lagophthalmos. Two of the patients had only lower lid ectropion. In two of the patients’ ectropion was forming on the upper lid in addition to the lower lid when closing the eye. In three of four patients, ectropion was repaired by skin grafts from the supraclavicular region. In a child with lower and upper lid ectropion prepuce was used for repair surgery. At the end of the follow‐up period of about 23.0 ± 12.7 months, none of the patients revealed lagophthalmos or corneal exposure. No intraoperative or postoperative complications have been observed in our patients. Ichthyosis patients with ectropion resistant to medical treatment, benefit from surgical treatment with full layer autografts. In boys, prepuce can be successfully used as autograft. This article is protected by copyright. All rights reserved.

Patient 1: Ectropion of lower and upper eyelids. (A) Eyes open. (B) Eyes closed. (C) Four days after surgical treatment of upper and lower eyelids ectropion. (D) Result 15 months after surgery

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Patient 2: (A) Lower lids with cicatricial ectropion before surgery. (B) Five days after surgery

…

Patient 3: (A) Preoperative appearance of the bilateral lower eyelids cicatricial ectropion. (B) Three days after surgical correction. (C) Ten months after correction with supraclavicular graft

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Patient 4: A child presenting with ichthyosis and cicatricial ectropion of both upper and lower lids. (A) Eyes open. (B) Eyes closed. (C) First day after surgery showing full‐thickness foreskin graft. (D) Fourteen months postoperatively with excellent functional and esthetic outcome

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ORIGINAL ARTICLE

Successful correction of ichthyosis-related ectropion

by autografts

Remzi Karada

| Neslihan Sevimli

| Ays¸e Serap Karada

| Uwe Wollina

Department of Ophthalmology, Istanbul

Medeniyet University School of Medicine,

Istanbul, Turkey

Department of Ophthalmology, Sultanbeyli

State Hospital, Istanbul, Turkey

Department of Dermatomology, Istanbul

Medeniyet University School of Medicine,

Istanbul, Turkey

Department of Dermatology and Allergology,

Städtisches Klinikum Dresden, Academic

Teaching Hospital of the Technical University,

Dresden, Germany

Correspondence

Uwe Wollina, Department of Dermatology and

Allergology, Städtisches Klinikum Dresden,

Academic Teaching Hospital of the Technical

University, Friedrichstrasse 41,

01067 Dresden, Germany.

Email: uwe.wollina@klinikum-dresden.de

Abstract

Ectropion is a rather frequent complication of ichthyosis with negative functional and

esthetic impact. Lid surgery can provide significant improvement. We report on

a series of four ichthyosis patients with ongoing bilateral eye problems despite

intense medical treatment (mean age 27.8 ± 14.1 years). All patients suffered from

lagophthalmos. Two of the patients had only lower lid ectropion. In two of the

patients' ectropion was forming on the upper lid in addition to the lower lid when

closing the eye. In three of four patients, ectropion was repaired by skin grafts from the

supraclavicular region. In a child with lower and upper lid ectropion prepuce was used

for repair surgery. At the end of the follow-up period of about 23.0 ± 12.7 months, none

of the patients revealed lagophthalmos or corneal exposure. No intraoperative or post-

operative complications have been observed in our patients. Ichthyosis patients with

ectropion resistant to medical treatment, benefit from surgical treatment with full layer

autografts. In boys, prepuce can be successfully used as autograft.

KEYWORDS

ectropion, eyelid, ichthyosis, skin graft, surgery, treatment

1|INTRODUCTION

Ichthyosis is a hereditary and heterogeneous group of hereditary dis-

orders of cornification which are characterized by hyperkeratosis and

a fish scale look.

Ichthyosis is divided into sub-groups such as ichthy-

osis vulgaris, x-linked ichthyosis, Harlequin ichthyosis, lamellar ichthy-

osis and congenital ichthyosiform erythroderma based on hereditary

characteristics, clinics and histopathological appearance.

The most

widespread ocular manifestation is cicatricial ectropion and mostly

seen as lamellar type.

3,4

Cicatricial ectropion can be congenital or can be seen in the further

phases of life.

As characteristics of ichthyosis disease, trans epidermal

dehydration as well as contractions and loss of elasticity in eyelid skin arise

as a result of compensatoryhyperproliferation.

2,6

Tissue loss and vertical

shortening are seen in anterior lamella and thus ectropion arises.

5-7

Other ocular manifestations such as lagophthalmos, conjuncti-

val hyperemia, exposure keratopathy, recurrent corneal ulcer

mostly develop due to cicatricial ectropion.

3-6,8

Furthermore, the

disease itself may also cause ocular manifestations with systemic

involvement.

Patients complain about photophobia, pain, tearing,

foreign body sensation and loss of vision.

Corneal damage arising from ectropion can be eased with mois-

turizers and synthetic tears while chronic inflammation can be eased

medically with steroids and immuno-modulators. However, surgery is

needed to cure advanced ectropion.

3,4,6,9,10

Full-thickness skin

defects are required in surgical treatment, but it is hard to find healthy

tissues since all skin is affected by the disease. Inner arm, retro auricu-

lar and supraclavicular region,

penile skin (prepuce),

groin

3,11

and

mucous membrane grafts

are successfully used in this sense.

In this article, we have aimed to present four cases we have

treated the cicatricial ectropion by using autografts prepared from

supraclavicular region and prepuce.

2|MATERIALS AND METHODS

This study protocol was approved by the local Institutional Review

Board and was conducted in accordance with the Declaration of

Received: 18 May 2020 Revised: 9 June 2020 Accepted: 12 June 2020

DOI: 10.1111/dth.13851

https://doi.org/10.1111/dth.13851

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Harlequin ichthyosis (HI) is a life-threatening genetic disorder that largely affects the skin of infants. HI is the most severe form of the autosomal recessive disorder known as ichthyosis. It is caused by mutations in the A12 cassette (lipid-transporter adenosine triphosphate-binding cassette A12). Neonates affected by this disease are born with specific morphological characteristics, the most prominent of which is the appearance of platelet keratotic scales separated by erythematous fissures. The facial features include eclabium, ectropion, a distinct flattened nose, and dysplastic ears. A common finding among those with HI is impaired skin barrier function. The purpose of the present narrative review is to assess the most recent literature regarding the management of HI. Emphasis is given to surgical management and consultation, to the indications for timing and surgical intervention, to the risks that are presented with surgery, and to the details of the surgical procedure itself. Management of HI requires a multidisciplinary team of experts, and specific guidelines are needed in order for the risks to be minimized and viability to be increased.

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Harlequin ichthyosis is a rare and severe genetic skin disorder that occurs within the developing foetus. Harlequin ichthyosis is the most severe and devastating form of autosomal recessive congenital ichthyoses. It is caused by mutations in the lipid transporter adenosine triphosphate binding cassette A 12. Here, we reported a case of harlequin ichthyosis with no family history. No abnormalities were detected in prenatal sonography. A 24-year-old pregnant woman with premature rupture of membrane and labour pain was referred to a hospital in Shoushtar city, Iran. The mother delivered a male baby with harlequin ichthyosis. The infant baby died on the 5th day. Harlequin ichthyosis is associated with adenosine triphosphate binding cassette A 12 gene mutation; therefore, genetic screening and counselling for susceptible parents should be taken into account. Prenatal diagnosis of harlequin ichthyosis principally via sonographic techniques is important in managing the disorder.

Clinical features, surgical outcomes and genetic analysis of ectodermal dysplasia with ocular diseases

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Aim: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. Methods: A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular diseases was undertaken. Patient clinical features and the outcomes of surgery were analysed. The suspected pathogenic genes were analysed by whole exome sequencing from patients with ectodermal dysplasia and Sanger sequencing from family members. Results: The ocular clinical features of ectodermal dysplasia with ocular diseases mainly include eyelid ectropion, lagophthalmos and absence of lacrimal punctum. All the probands underwent surgeries of full-thickness free skin flap grafting to correct ectropion. They achieved good recovery, and there were no obvious complications during the follow-up. The gene sequencing results did not show any meaningful genetic mutations. Conclusion: Lid ectropion is one of the key clinical traits of ectodermal dysplasia with ocular diseases. Ectropion correction with full-thickness free skin flap grafting is an effective procedure to correct ectropion for ectodermal dysplasia patients with ichthyosis-like tissue. The suspected pathogenic genes of ectodermal dysplasia with ectropion should be further verified or confirmed by large samples of the family.

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

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Purpose To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. Methods Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosis of lamellar ichthyosis from families located in a small community in the Southeast of Mexico. Results Nine patients with LI in five families were identified. There were six affected females. All patients (9/9) demonstrated eye lid abnormalities with eight patients showing lid margin abnormalities. Madarosis was present in only three individuals and corneal scarring was documented in two. All nine individuals carried biallelic TGM1 variants, either homozygously or as compound heterozygous. Conclusion Ocular anomalies are common in individuals with TGM1-related LI. The occurrence of a variety of private or rare mutations hampers the identification of a genotype–phenotype correlation for ocular anomalies in this disorder.

Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report

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Patient: Female, newborn Final Diagnosis: Ectropion in lamellar ichthyosis Symptoms: Entropion • parchment-like scales • dry eyes Medication: — Clinical Procedure: Ophthalmological and dermatological follow-up Specialty: Ophthalmology Objective Rare disease Background Lamellar ichthyosis is a rare type of hereditary ichthyosis disease that is responsible for generalized dry skin and severe scaling. Congenital ectropion and eclabium are often associated with this condition. The ectropion can cause many ophthalmologic complications, mostly due to corneal exposure caused by the lack of eyelid cleft closure. The corneal exposure can cause ulceration and even corneal perforation leading to phthisis bulbi. Case Report We report the case of a North African newborn baby diagnosed with congenital lamellar ichthyosis responsible for severe skin scaling, eclabium, and bilateral ectropion of both the upper and lower eyelids. The therapeutic care of the baby was ensured by a collaboration between ophthalmologist and dermatologist. The newborn was treated by oral acitretin and skin emollients for his dermatological conditions and on the ophthalmological level he was put on lubricating and moisturizing eye drops and gel, associated with daily repeated eyelid massage. The evolution after 6 months of treatment showed excellent results on both the dermatological and the ophthalmological level. Conclusions At the stage of cicatricial ectropion in lamellar ichthyosis, the management is mainly based on a chirurgical approach. However, if the ectropion is managed early enough, the treatment could be medical, which is much easier, produces very good results, and prevents the progression toward eyelid fibrosis and its associated complications that can make the management of the ectropion much harder.

Ectropion surgery might not be a long‐term solution for harlequin ichthyosis

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Diseases, conditions, and drugs associated with cicatricial ectropion

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Cicatricial ectropion may be a consequence of certain systemic diseases as well as the result of drug use. Our goal here was to research the different causes of this condition as reported in the literature, including more recently suspected etiologies. A detailed PubMed literature search indicated many different etiologies were associated with cicatricial ectropion development, from severe cases of systemic diseases, such as ichthyosis and lupus erythematosus, to reversible scenarios secondary to anti-glaucomatous drug use. More recently reported connections include periorbital necrotizing fasciitis, frontal osteomyelitis, and antineoplastic agents. Indeed, cicatricial ectropion may be highly symptomatic; being able to determine its real etiology is imperative to managing patients properly. In this investigation, we felt that an explicitly multidisciplinary approach was essential, especially for cases associated with systemic conditions.

Surgical Treatment with Locoregional Flaps for the Eyelid: A Review

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BMRI

Reconstruction of the eyelids after skin cancer excision can be challenging. Surgical treatment options are multiple; deep anatomy knowledge of lamellar components is mandatory to choose the most adequate surgical planning. Eyelids’ role in vision and social relationship is critical; both function and aesthetics are tough to restore. Using a flap provides a satisfying texture and colour match with adjacent tissues and ensures short contraction during healing; furthermore, grafts are sometimes necessary to achieve pleasing results. Hundreds of surgical techniques have been described aiming for eyelid reconstruction; in our paper, we want to provide for our audience the most reliable and useful procedures for subtotal and total eyelid reconstruction following NMSC full-thickness excision.

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment

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Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms of ichthyosis exist. Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. In nonsyndromic forms, these features are most evident in severe autosomal recessive congenital ichthyosis (ARCI) and epidermolytic ichthyosis, but to some extent also occur in the common type of non-congenital ichthyosis. A correct diagnosis of ichthyosis—essential not only for genetic counseling but also for adequate patient information about prognosis and therapeutic options—is becoming increasingly feasible thanks to recent progress in genetic knowledge and DNA sequencing methods. This paper reviews the most important aspects of nonsyndromic ichthyoses, focusing on new knowledge about the pathophysiology of the disorders, which will hopefully lead to novel ideas about therapy.

Long Term Follow Up of Mucous Membrane Grafting for Cicatricial Ectropion in Ichthyosis: A case report

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Introduction: Ichthyosis is a group of keratinizing diseases characterized by scaly and dry skin. One of the ocular complications associated with ichthyosis is cicatricial ectropion which often results in exposure keratopathy and eventually corneal scarring. Presentation of case: In this report we are presenting a 21-year-old female who is known to have ichthyosis-related bilateral lower lid cicatricial ectropion, which was managed with Mucous Membrane Grafting (MMG) six years ago. Discussion: Despite the serious complications of ichthyosis-related eyelid malposition such as cicatricial ectropion, until present no single way has been standardized to treat the ectropion in these patients. MMG has been previously described, but up to our knowledge this is the first reported long term follow up of MMG offered for ichthyosis-related cicatricial ectropion. Conclusion: We strongly recommend MMG as a promising surgical treatment option offered for ichthyosis patients with cicatricial ectropion providing good outcome and acceptable cosmetic results.

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To describe a modified surgical procedure that uses a combination of the tarsoconjunctival flap, orbicularis myocutaneous advancement flap, and paranasal-island flap to correct extensive full-thickness lower eyelid defects in functioning eyes. From May 2010 to December 2013, a total of 15 patients had reconstructive surgeries of large to giant lower eyelid defect, with an average 19-month follow-up. The musculocutaneous flaps were harvested from both orbicularis and paranasal regions and clinical outcomes were recorded and analyzed. No major complications were observed in any of the patients. All the patients showed aesthetic eyelid contour, good color, and texture match as well as no obvious scar formation. The mean Marginal Reflex Distance-2 measured 4 months after surgery was 4.9 ± 0.4 mm. Reconstruction of a large defect in the lower eyelid with a tarsoconjunctival flap and the composite neighboring musculocutaneous flaps is a reliable and reproducible method. With proper design and well-executed precision, excellent functional and aesthetic results can be achieved by this elegant procedure without any major complications.

Ocular manifestation of Ichthyosis

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Purpose: Ichthyosis is a rare dermato-ocular disease. This study evaluates the presenting ocular signs, symptoms, complications and prognosis of ichthyosis in a case series from Saudi Arabia. Methods: A retrospective chart review was performed for 11 patients with ichthyosis who presented to King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia, over the last 20 years. Results: The most common presenting ocular diagnosis was ectropion of both the lids. Two patients developed corneal perforation with poor prognosis. Most of the patients underwent skin grafting to repair eyelid ectropion. The visual prognosis was excellent because timely surgical interventions were performed. Hence the rate of corneal complications such as perforation was low. Conclusion: The most ocular presentation of ichthyosis is ectropion of both the upper and lower lids. Despite good visual prognosis, there were some devastating corneal complications such as perforation with unpredictable outcomes.

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The ichthyoses, also termed the disorders of keratinization, are a heterogenous group of skin diseases in which a distinctive horny layer arises secondary to excessive transepidermal water loss. Although occasionally acquired, the majority of ichthyoses are inherited and can be pinpointed to characteristic genetic mutations. Management depends on disease severity and includes topical agents and lifestyle modifications with or without oral retinoids. Genetic counseling is also an important consideration. This review aims to highlight advances in our understanding of disease pathogenesis as well as the holistic approach necessary to adequately manage ichthyosis patients.

Severe ectropion in lamellar ichthyosis managed medically with oral acitretin

Article

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Congenital ectropion is commonly associated with lamellar ichthyosis. Severe eyelid ectropion may cause corneal exposure, keratopathy, and permanent corneal scarring. We report a neonate with severe, bilateral, congenital ectropion and eclabium managed using oral retinoids. Both corneas were protected with topical antibiotics and lubricating eyedrops and eye ointments. At 12-month follow-up, the child was doing well, with no ectropion or corneal opacity.

Surgical treatment of cicatricial ectropion in lamellar ichthyosis

Article

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BACKGROUND: Lamellar ichthyosis is a skin disorder that is frequently associated with cicatricial ectropion and lagophthalmos. The authors present the surgical management of cicatricial ectropion in a case with lamellar ichthyosis. PATIENT AND METHODS: A 2-year-old male presented with bilateral cicatricial ectropion of the upper and lower eyelids. He had lagophthalmos and corneal punctuate staining. His skin was totally involved with the disease process except his prepuce. The patient was circumcised, and after the correction of horizontal eyelid laxity, the penile skin graft was sutured into the defects in all four eyelids. RESULTS: 18 months following surgery the patient had no lagophthalmos or corneal exposure, but had slight ectropion at the temporal side of the left lower eyelid. He had no complications from the circumcision. CONCLUSION: Prepuce is an alternative donor tissue in male patients with no other available donor site. To our knowledge, this is the second report of cicatricial ectropion corrected with a penile skin graft.

Spontaneous bilateral corneal perforation in a patient with ichthyosis

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We present an 8-month-old female patient with bilateral spontaneous corneal perforation and lamellar ichthyosis. On examination, the skin of the body and face of the patient was completely dry and scaly. Cicatricial ectropion and descemetocele with small perforations were seen. Double-layered amniotic membrane transplantation on the cornea with eyelid construction was performed on both eyes. At the 6-month follow-up, lower eyelid minimal ectropion formation and inferior corneal leukoma were seen bilaterally. In ichthyosis patients, the cornea should be monitored closely due to the risk of severe visual loss and corneal perforation.