| Unusual protrusion of conjunctiva in two neonates with harlequin ichthyosis. | |
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PMID: 21475604 Owner: NLM Status: PubMed-not-MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: We present two patients who developed severe protrusion of the conjunctiva and chemosis secondary to Harlequin ichthyosis (HI). CASE REPORTS: Case 1 was a male infant diagnosed with HI who had parchment-like appearance and conjunctival protrusion with severe chemosis. Case 2 was a female infant on whom HI had been suspected before birth through ultrasonography. She showed thickened skin over the entire body and conjunctival protrusion with severe chemosis. For both cases, a vitamin A derivative was applied and the hyperkeratotic layer was peeled off every day. Great care was taken to sterilize and moisten the ocular surface. The conjunctival protrusion gradually improved and other systemic conditions were successfully treated. HI is a rare condition, but affected infants are surviving longer than previously and hence guidelines for ocular management are now required. CONCLUSIONS: Gentle and patient debridement of the hyperkeratotic skin and moisturizing were important in treating the unusual conjunctival protrusion. |
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Authors:
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Tomonobu Hazuku; Kisaburo Yamada; Masamoto Imaizumi; Toru Ikebe; Kei Shinoda; Kazuo Nakatsuka; Kazuhito Sekiguchi; Tatsuro Izumi; Yoshihiro Nishida |
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Publication Detail:
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Type: Journal Article Date: 2011-02-21 |
Journal Detail:
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Title: Case reports in ophthalmology Volume: 2 ISSN: 1663-2699 ISO Abbreviation: Case Rep Ophthalmol Publication Date: 2011 |
Date Detail:
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Created Date: 2011-04-08 Completed Date: 2011-07-14 Revised Date: 2013-02-21 |
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Nlm Unique ID: 101532006 Medline TA: Case Rep Ophthalmol Country: Switzerland |
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Languages: eng Pagination: 73-7 Citation Subset: - |
Affiliation:
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Department of Ophthalmology, Oita University Faculty of Medicine, Hasama-machi, Yufu-shi, Teikyo University School of Medicine, Tokyo, Japan. |
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Journal Information Journal ID (nlm-ta): Case Report Ophthalmol Journal ID (publisher-id): COP ISSN: 1663-2699 Publisher: S. Karger AG, Allschwilerstrasse 10, P.O. Box · Postfach · Case postale, CH–4009, Basel, Switzerland · Schweiz · Suisse, Phone: +41 61 306 11 11, Fax: +41 61 306 12 34, karger@karger.ch |
Article Information Download PDF  Copyright © 2011 by S. Karger AG, Basel open-access: collection publication date: Season: Jan–Apr Year: 2011 Electronic publication date: Day: 21 Month: 2 Year: 2011 pmc-release publication date: Day: 21 Month: 2 Year: 2011 Volume: 2 Issue: 1 First Page: 73 Last Page: 77 ID: 3072175 PubMed Id: 21475604 DOI: 10.1159/000325138 Publisher Id: cop0002-0073 |
| Unusual Protrusion of Conjunctiva in Two Neonates with Harlequin Ichthyosis | |
| Tomonobu Hazukua | |
| Kisaburo Yamadaa | |
| Masamoto Imaizumid | |
| Toru Ikebed | |
| Kei Shinodaae* | |
| Kazuo Nakatsukaa | |
| Kazuhito Sekiguchib | |
| Tatsuro Izumib | |
| Yoshihiro Nishidac | |
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aDepartment of Ophthalmology, Oita University Faculty of Medicine, Hasama-machi, Yufu-shi, Teikyo University School of Medicine, Tokyo, Japan |
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bDepartment of Pediatrics, Oita University Faculty of Medicine, Hasama-machi, Yufu-shi, Teikyo University School of Medicine, Tokyo, Japan |
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cDepartment of Obstetrics and Gynecology, Oita University Faculty of Medicine, Hasama-machi, Yufu-shi, Teikyo University School of Medicine, Tokyo, Japan |
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dDepartment of Ophthalmology, Oita Prefectural Hospital, Oita-shi, Teikyo University School of Medicine, Tokyo, Japan |
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eDepartment of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan |
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| Correspondence: *Kei Shinoda, MD, Department of Ophthalmology, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi-ku, Tokyo 173-8606 (Japan), Tel. +81 3 3964 1225, E-Mail shinodak@med.teikyo-u.ac.jp |
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Harlequin ichthyosis (HI, HIM 242500) is a severe disorder of keratinization caused by mutations in the ABCA12 gene. The mutations lead to defective lipid transport which significantly affects the normal development and function of the skin [1]. HI is a severe, lethal form of keratinizing disorder [1], and there are less than 100 cases reported. The characteristic clinical features include: thick and plate-like scales over the entire body, ectropion, eclabium, and flattened ears [1]. We present two cases of HI with severe protrusion of the conjunctiva and chemosis secondary to HI. The protruded conjunctiva gradually improved without remnants and functioned normally following treatment of the palpebral hyperkeratosis.
Case 1 was the second child of healthy non-consanguineous Japanese parents who was born at 37 weeks and 6 days of pregnancy by vaginal delivery. The male infant weighed 3,126 g with an APGAR score of 7/9. The infant was referred to the Ophthalmology Department for bilateral exophthalmus (fig. 1a). He had typical characteristics of HI, e.g. parchment-like appearance of the skin, deformities of the ears and mouth, ectropion, and conjunctival protrusion associated with severe chemosis (fig. 1a–c). Topical etretinate, a vitamin A derivative, was applied, and the hyperkeratotic layer was manually peeled off under aseptic conditions every day from the initial examination to early infancy: until approximately 90 days post partum. Other systemic conditions such as deformities of the ears and mouth were successfully treated with decrease of the abnormal skin turgor and the infant developed well.
Ophthalmologically, great care was taken to sterilize and moisten the ocular surface with antibacterial agent eye drops, hyaluronic acid, and eye ointment. The conjunctival protrusion and ectropion gradually improved until about 2 months after birth (fig. 1d, e). Finally, chemosis disappeared and the cornea could be kept clear.
Case 2 was the second child of healthy Japanese parents. HI was suspected through the findings of ultrasonography (fig. 2a, b), and a Caesarean section was performed at 38 weeks and 0 days of pregnancy. Her birth weight was 2,566 g and the APGAR score was 8. The infant had the typical features of HI, e.g. thickened skin over the entire body with a number of fissures and rashes, face without mimicry, nasal hypoplasia, fixed open mouth, and conjunctival protrusion associated with severe chemosis (fig. 2c). The eyelids were completely everted with occlusion of the eyes bilaterally.
Intensive skin care was applied, especially moisturizing and lubrication with daily sterile dressings with liquid paraffin. The other systemic conditions were normal, and she developed well with systemic etretinate. The hyperkeratotic layer of the skin surrounding both eyes was hygienically peeled off very carefully and the surface was sterilized with an antibacterial eye drop every day. The protruded conjunctivae were protected by 0.3% ofloxacin ointment, and there was a gradual improvement accompanied by a decrease in the tension of the periocular skin (fig. 2d, e). The improvement enabled us to examine the anterior segment and fundus, and all findings were within normal limits. With time, the ectropion became more severe. The ocular surface was kept disinfected and moist with ointments and eye drops: 0.5% levofloxacin hydrate and 0.1% purified sodium hyaluronate 5 times a day. Thereafter, the ectropion did not worsen with further reduction of the tension on the periocular skin (fig. 2f).
To date, the diagnosis of HI can be made by skin biopsy before 24 weeks of gestation but it is limited to families with a previously affected child [2]. Ultrasonographic diagnosis may be useful in some cases, but it is generally difficult because of the late development of the phenotype at mid-gestation and the rarity of the disease [3].
HI is an inherited autosomal recessive trait, and the dysfunction of the epidermis begins prenatally. It has also been called: alligator baby, keratosis diffusa fetalis, malignant keratosis, and other descriptive names. It is associated with premature birth and is frequently fatal within the first days or weeks of life due to neonatal complications of fluid loss and sepsis. Recently, intensive care and skin treatment have improved the survival rate, although the mortality is still high and the exact life expectancy is unknown [4]. Only a limited number of cases have been reported on the ocular complications of hyperkeratosis such as ectropion [2, 3, 5, 6]. But with the improvement of treatment and longer life expectancy, it is expected that more and more cases of HI will require treatment or consultation with ophthalmologists [5, 6, 7].
Our two cases showed severe protrusion of the conjunctiva with chemosis and systemic hyperkeratosis but otherwise the infants were fit and well: musculoskeletal and visceral status as well as the eye ball itself were normal. For case 2, the prenatal diagnosis enabled a planned delivery and intensive local and systemic cares which contributed substantially to preventing sepsis. In our two cases, gentle and patient debridement of the hyperkeratotic skin, prevention against infection, and moisturizing were important in helping the unusual conjunctival protrusion and eyelid eversion from worsening.
No author has a proprietary interest in any material or method mentioned.
Notes
This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License (www.karger.com/OA-license), applicable to the online version of the article only. Distribution for non-commercial purposes only.
Support of this study was provided by Researches on Sensory and Communicative Disorders from the Ministry of Health, Labor, and Welfare, Japan.
References
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| 4. | Verfaille CJ,Vanhoutte FP,Blanchet-Bardon C,van Steensel MA,Steijlen PM. Oral liarozole versus acitretin in the treatment of ichthyosis: a phase II/III multicentre, double-blind, randomized, active-controlled studyBr J DermatolYear: 200715696597317263800 |
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| 7. | Tuppurainen K,Fräki J,Karjalainen S,Paljärvi L,Suhonen R,Ryynänen M. The KID-syndrome in Finland. A report of four casesActa Ophthalmol (Copenh)Year: 1988666926983232512 |
Article Categories:
Keywords: Key Words Ichthyosis, Chemosis, Conjunctival protrusion, Ectropion, Ultrasound echography. |
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