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Congenital Ichthyosis: A Case Report Graciane Jacinta Schmitt, Thaís Furtat Marques, Daisson José Trevisol and Fabiana Schuelter-Trevisol CLIN PEDIATR published online 9 October 2014 DOI: 10.1177/0009922814553436 The online version of this article can be found at: http://cpj.sagepub.com/content/early/2014/10/08/0009922814553436
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CPJXXX10.1177/0009922814553436Clinical PediatricsSchmitt et al
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Congenital Ichthyosis: A Case Report
Clinical Pediatrics 1–3 © The Author(s) 2014 Reprints and permissions: sagepub.com/journalsPermissions.nav DOI: 10.1177/0009922814553436 cpj.sagepub.com
Graciane Jacinta Schmitt1,2, Thaís Furtat Marques2, Daisson José Trevisol1,2, and Fabiana Schuelter-Trevisol, PhD1,2 Case Report A white baby boy (MTD) was born on June 6, 2014 by cesarean section. His birth weight, length, and head circumference were 2,355g, 42 cm, and 35 cm, respectively. Gestational age at delivery was 35 weeks and 5 days, Apgar 7/9, with no remarkable complications or need for resuscitation. The baby’s mother was primiparous, aged 18 years, and had not received routine prenatal care. However, she had undergone morphological ultrasound, which showed no alterations, and rapid screening test for HIV, HBsAg, and Venereal Diseases Research Laboratory. At birth, the newborn baby was hypotonic with a dry and erythematous face, and the perioral, periorbital and nasal regions became whitish (Figure 1). In addition, he presented with thick, hyperkeratotic scales covering his trunk, with deep dermal fissures, prominent eclabium, and bilateral ectropion (Figure 2). In the neonatal intensive care unit, the patient was clinically stable, showed vital signs within the normal range for the gestational age, and maintained a good peripheral perfusion. He was placed in a heated and humidified incubator at 90% humidity. Contact isolation was performed to reduce the risk of infection. He was fed breast milk via a nasogastric tube, without the need for intravenous hydration. Disease management initiated by using topical ointment emollients, such as Aquaphor, and lubricant eye drops, such as Lacrima Plus, Epitezan, and methylcellulose. The newborn was kept in an environment with low light because of the bilateral ectropion. In the first 3 days of hospitalization, the child had intercurrent events, such as a drop in oxygen saturation and tachypnea, thus requiring supplemental oxygen via nasal cannula due to the restriction of chest expansion, vomiting, and hyperthermia. He was fed via a nasogastric tube and had adequate diuresis. According to the ophthalmologist’s assessment, there was no corneal or conjunctival pain, although in the pediatric eye exam, reflex was observed only in the left eye. The dermatology department did not recommend a biopsy because the diagnosis was essentially clinical and did not alter measures already taken. The patient had heart and lung examinations within the normal range. Initial blood tests showed anisocytosis, microcytosis, and macrocytosis. Hypocalcemia was
also detected; therefore, calcium was added to breast milk and introduced via nasogastric tube. After discharge from the neonatal intensive care unit 7 days after birth, he developed skin peeling, leaving smooth reddened skin areas, extremely dry limbs with limitation of movement associated with angular cheilitis and fissures in the inguinal region, and nasal hypoplasia. The initial clinical treatment was maintained. Twenty days after birth, the patient was transferred to the University Hospital of Florianópolis, Santa Catarina, Brazil, to continue dermatological treatment for ichthyosis, because of greater proximity to their parents’ home.
Final Diagnosis The child was clinically diagnosed with harlequin ichthyosis or lamellar ichthyosis.
Discussion Congenital ichthyosis encompasses a wide range of monogenic keratinizing disorders with different etiologies, and may be associated with systemic symptoms.1 Patients affected by this disease lose the permeability of their skin, which is responsible for the protection against transepidermal water loss by evaporation, and against bacterial and chemical agents, or mechanical aggression. The consequence of the protective barrier’s breakdown in childhood can enhance susceptibility to secondary infections.2 The most severe forms are often associated with erythema, palmoplantar keratoderma, ectropion, eclabium, and alopecia. Furthermore, some patients exhibit blistering and erosions of the skin, as in the case of ichthyosis bullosa or epidermolytic hyperkeratosis. 1
Postgraduate Program in Health Sciences. University of Southern Santa Catarina at Tubarão, Santa Catarina, Brazil 2 Clinical Research Center, Hospital Nossa Senhora da Conceição, Tubarão, Santa Catarina, Brazil Corresponding Author: Fabiana Schuelter-Trevisol, University of Southern Santa Catarina, Avenida José Acácio Moreira, 787, Bairro Dehon, Tubarão, Santa Catarina, CEP 88704-900, Brazil. Email:
[email protected]
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Clinical Pediatrics
Figure 1. A 10-day-old baby showing ectropion and eclabium. Dry and erythematous face.
Figure 2. Thick, hyperkeratotic scales covering the child’s trunk with skin peeling in some areas and fissures in the inguinal region.
A number of abnormal physiological mechanisms can be observed in congenital ichthyosis, such as the proliferation of cells that migrate from the basal layer to the skin surface, the decreased removal of stratum corneum cell cohesion, and abnormal transepidermal water loss.3 Types of ichthyoses are classified as common ichthyosis, epidermolytic hyperkeratosis or bullous congenital ichthyosiform erythroderma, and lamellar ichthyosis or harlequin ichthyosis. Common ichthyosis encompasses ichthyosis vulgaris and X-linked ichthyosis, the latter affecting primarily men. The incidence of both forms of the disease is similar worldwide, around 1:300 people and 1:2,500 men, respectively. Although they manifest themselves with different severity levels, X-linked ichthyosis manifests earlier and has a slightly higher severity than ichthyosis vulgaris. Histologically, there is dense hyperkeratosis with epidermal cell migration within the normal range. Clinically, moderate scaling occurs at the extensor surfaces and trunk, especially in X-linked ichthyosis.1-3
Epidermolytic hyperkeratosis or bullous congenital ichthyosiform erythroderma is an autosomal dominant alteration caused by genetic mutations, characterized by lytic changes within the epidermis. It is present at birth, when the newborn presents with painful blisters and raw exuding areas. This clinical state leads to a differential diagnosis initially with epidermolysis bullosa, scalded skin syndrome or toxic epidermal necrolysis. Histologically, it manifests with marked hyperkeratosis, thick granular layer, and thickened papillomatous epidermis. The epidermal cell migration is reduced. After reconstitution of the stratum corneum, the initially affected areas are transformed into large scales, sometimes warty, especially in flexural areas of the knees and elbows.2,3 Lamellar ichthyosis or harlequin ichthyosis is an autosomal recessive disorder with variable expressivity, known as harlequin baby. It is the most rare and severe form of ichthyosis, which is invariably present at birth and has an incidence rate of approximately 1:3 00 000 live births3,4. Histologically, harlequin ichthyosis shows moderate-to-intense hyperkeratosis, thickened granular layer with reduced epidermal cell migration.3 At birth, the newborn presents with generalized erythema and is surrounded by coating of a markedly thick stratum corneum that resembles collodion. It causes eversion of the eyelids (ectropion) and lips (eclabium), swelling and peeling of palms of the hands and soles of feet that, when covered with scales, is called palmoplantar keratoderma.2 Technological advancements in neonatal intensive care units and appropriate skin management led to increased survival of these newborns.4 Diagnosis of harlequin ichthyosis is mainly clinical at birth, but during pregnancy, ultrasound can indicate the presence of the disease by observing partial closure of the oral cavity, nasal hypoplasia, rudimentary ears, critical mass within the orbit region, stiff fingers or claw hands, scaly skin, and movement restriction condition.5 In the case reported in this study, the diagnosis occurred only after delivery. Prevention of secondary complications of ichthyosis in newborns is of utmost importance. Therefore, one must be careful not only to prevent infection but also dehydration, both resulting from skin lesions. Furthermore, the maintenance of body temperature deserves special attention. The use of humidified incubator and topical hydration is recommended to maintain skin integrity, texture, and hydration state in order to reduce the risk of skin injury and pain. The use of methylcellulose eye drops promotes lubrication of the stratum corneum to prevent blindness in patients with ectropion.5,6
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Schmitt et al Maintaining water balance, weight, and electrolyte balance is important because of the risk of dehydration due to increased water loss through the skin, often requiring intravenous hydration.2 Adhesive skin tapes should be avoided to reduce the risk of mechanical injury.7 The use of prophylactic antibiotics in children with ichthyosis remains controversial.2 Ichthyosis mortality rates among children have reduced over the years, but sepsis is the most important risk factor for death during the neonatal period.3,8 As a closing remark, it should be emphasized that a multidisciplinary approach is important to a favorable evolution of the disease, with little or no complication, thus improving quality of life of patients with ichthyosis.7
Conclusion This is a case report of a newborn with a clinical diagnosis of harlequin ichthyosis or laminar ichthyosis. A multidisciplinary team helped treat the disease, thus preventing infections and serious complications until the patient was transferred to another hospital. Special care should be maintained to prevent morbidity and mortality in patients with ichthyosis. Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. Vahlquist A, Gânemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol. 2008;88:4-14. 2. Craiglow BG. Ichthyosis in the newborn. Semin Perinatol. 2013;37:26-31. 3. Ceccon MERJ, Diniz EMA, Feferbaum R, et al. Congenital Ichthioses. Pediatria. 1994;16:113-119. 4. Georgetti FC, Eugênio GR, Volpe HT. Ictiose arlequim: relato de caso e revisão de literatura. Rev Paul Pediatria. 2006;24:90-93. 5. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional rescue by corrective gene transfer. J Clin Invest. 2005;115:1777-1784. 6. Chany YC, Tay YK, Tan LK, Happle R, Giam YC. Harlequim ichthyosis in association with hypothyroidism and juvenile rheumatoid arthritis. Pediatr Dermatol. 2003;20:421-426. 7. Harvey HB, Shaw MG, Morrell DS. Perinatal management of harlequin ichthyosis: a case report and literature review. J Perinatol. 2010;30:66-72. 8. Brito MAS, Figueiroa F. Evaluation of the side effects of acitretin on children with ichthyosis: a one-year study. An Bras Dermatol. 2004;79:283-288.
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