eISSN 1307-394X

Review

Collodion Baby

Yalçın Tüzün, MD, Aydın İşçimen,* MD, Özer Pehlivan, MD

Address: Department of Dermatology Cerrahpaşa Medical Faculty Istanbul University, Fatih, İstanbul, 34098 Turkey E-mail: [email protected] * Corresponding author: Aydın İşçimen, MD, Department of Dermatology Cerrahpaşa Medical Faculty Istanbul University, Fatih, İstanbul, 34098 Turkey

Published: J Turk Acad Dermatol 2008; 2 (2): 82201r This article is available from: http://www.jtad.org/2008/2/jtad82201r.pdf Key Words: collodion baby,

Abstract

Background: The term collodion baby is used for newborns in whom all the body surface is covered by thick skin sheets, so called “collodion membrane”. The collodion membrane is the result of an epidermal developmental dysfunction. The collodion membrane is composed of thick skin sheets which resemble translucent, tight parchment paper. In almost all of the collodion membrane cases an autosomal recessive ichthyosiform disease is implicated. Especially, in cases of lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis frequent association with collodion baby formation has been well documented. Clinically, the collodion babies may encounter , electrolyte imbalance, temperature malfunction and increasing sepsis risk because of a relatively severe skin damage. Therefore, morbidity and mortality rates are fairly high in these cases. Conclusively, these newborns should be monitored carefully in intense care units and appropriate and supportive treatment must be undertaken.

Introduction turing autosomal recessive inheritance) are responsible. Rarely there may be an asso- The term collodion baby refers to a clinic ciation with bullous congenital ichthyosi- entity used for newborns who are encom- form erythroderma, Gaucher’s disease and passed by a translucent, tight and parch- Sjögren-Larsson syndrome. Furthermore, a ment paper like skin sheets so called collo- new form of the disease with an autosomal dion membrane, on the entire body surface recessive inheritance called “self healing [1, 2, 3]. Collodion baby as a term was first collodion baby” has been notified where the used by Hallopeau in 1884 [3, 4, 5]. Since newborn completely recovers in a couple of then approximately 270 cases were reported weeks. Nevertheless there some other collo- [2, 4]. Although, some other diseases and dion baby causes that have been notified in situations may lead to collodion membrane individual publications [3, 4, 6] (Table 1). formation in almost all the cases the cause is an autosomal recessive ichthyosiform dis- Pathogenesis ease. The collodion membrane occurs due to an In order of frequency, congenital ichthyosi- epidermal cornification disorder just like all form erythroderma (especially, nonbullous the ichthyosiform diseases. Although, the form), lamellar ichthyosis and harlequin pathogenesis of molecular mechanisms ap- ichthyosis (which is usually accepted to fea- parently lead to an epidermal cornification Page 1 of 5 (page number not for citation purposes) J Turk Acad Dermatol 2008; 2 (2): 82201r. http://www.jtad.org/2008/2/jtad82201r.pdf

Table 1. Diseases Associated with Collodion Baby

• Autosomal recessive congenital ichthyoses [lamellar ichthyosis, congenital ichthyosiform erythroderma (nonbullous form), harlequin ichthyosis] • Epidermolytic hyperkeratose (bullous congenital ichthyosiform erythroderma) • Gaucher’s disease Figure 1. Collodion baby • Sjögren-Larsson syndrome • Self- healing collodion baby • Neutral lipid storage disease ration and sucking function. The collodion membrane peels off in two or more weeks • frequently leaving behind fissures and skin • Annular epidermolytic erythema barrier dysfunctions. As a result serious • Loricrin complications like risk of infection, fluid • X-linked to hypohydrotic loss, hypernatraemic dehydration, electro- • Other diseases lyte imbalance and thermal instability may be encountered. The collodion babies are disorder, keratinocyte protein and lipid me- usually premature at birth. Therefore, these tabolism defects resulting from autosomal babies should be monitored very carefully recessive genetic mutations have also been [2, 6]. The eyelids and the lips may be notified as important cofactors [3]. everted and tethered ( and The cause of both autosomal recessive la- eclabion). In such cases loss of proper man- mellar ichthyosis and congenital ichthyosi- agement can result with keratitis due to xe- form erythroderma (nonbullous) have been rophthalmia and eventually blindness. reported to be transglutaminase 1 gene mu- While the skin peels off, the residual skin tation localized on the 14q11 [4, 7]. More- becomes dry and tough. Particularly, tight over, both varied molecular pathogenesis membrane on limbs may lead to construc- mechanisms and 5 different gene localiza- tion and loss of function [3, 6]. While the tions and more than 50 gene mutations in child grows up, also the symptoms and these genes have been detected [8, 9]. findings of the premier diseases which have caused the collodion baby appearance begin to arise (Table 1). However, some cases of Histopathology collodion babies that have healed spontane- ously in a few weeks and no associated dis- With light microscopic examination of the ease have ever been determined are also skin specimens of a newborn baby with a been reported [1, 2, 3]. collodion membrane in the early periods an eosinophilic, PAS positive stratum corneum The Clinical Forms of Diseases Often accompanied by can be ob- Associated with Collodion Baby served. However, the epidermis is weakened due to the thinning of the granular layer. In a long time follow up study of 17 collo- But electron microscopic examination re- dion babies it has been reported that, after veals dense intracytoplasmic granules and the membranes peel in a 1-4 weeks period, convoluted corneocytes that can be seen in 7 cases (41%) were determined as congeni- the upper portion of stratum corneum. La- tal ichthyosiform erythroderma, 3 cases mellar bodies are numerous but intercellu- (18%) as lamellar ichthyosis, one case as lar space and the desmosomes are well pre- Sjögren-Larsson syndrome, one case as epi- served. The thinned granular layer is struc- dermolytic hyperkeratosis (bullous congeni- turally normal [3]. tal ichthyosiform erythroderma) and one case as Gaucher’s disease. The rest of the patients (4 cases, 24%) showed any other Clinical Features skin disease [2].

The collodion babies may be born with a collodion membrane covering the entire LAMELLAR ICHTHYOSIS skin surface just like an armor (Figure 1). Lamellar ichthyosis may cause collodion This situation limits both the baby's respi- baby. In these cases after the collodion Page 2 of 5 (page number not for citation purposes) J Turk Acad Dermatol 2008; 2 (2): 82201r. http://www.jtad.org/2008/2/jtad82201r.pdf membrane peels the skin is almost com- BULLOUS CONGENITAL ICHTHYOSIFORM pletely erythematous and later on an almost ERYTHRODERMA (EPIDERMOLYTIC HYPERKERATOSE) generalized desquamation is observed. Gradually the size and thickness of the The mutations that are localized on the scales increase. Soon after, all the body keratin 1 and/or 10 genes play an impor- surface becomes covered by thick scales. tant role in the occurrence of this clinical Especially, the face and the lower legs are picture [5, 11]. In severe cases, large bul- involved. Such a thickening of the stratum lous lesions, diffuse erythema and a scaly corneum can bring about a lot of secondary appearance may be seen at birth. The bul- problems. Because of the dysfunction of he lous lesions easily rupture and the skin sweat glands evaporation can be insuffi- usually shows erosive, erythematous cient and as a result hyperthermia occurs. patches. Bullous lesions are frequently If the scalp is greatly involved, alopecia painful and hence, they may be trouble- areata can be seen and even a hazardous some for the in the early periods of cicatricial alopecia can occur. Besides these life. Especially, diffuse erosive lesions may rather more commonly seen unwanted af- cause risk of high infection. In differential fects deep fissures and extremity contrac- diagnosis, staphylococcal scalded skin syn- tures can also be observed. Ectropion may drome and should be lead to development of eye dryness considered. In the course of the disease, (xerophthalmia) and keratitis and eventu- sites of diminishing bullous lesions leave ally may evolve to blindness [4]. their place to a hyperkeratotic skin layer seemingly a cobblestone configuration. This apperance in times may cover all the skin CONGENITAL ICHTHYOSIFORM ERYTHRODERMA surface. The cobblestone appearance is pre- dominantly because of the deep fissures. This clinic entity is usually dealt as bullous The most important feature of this stage of and nonbullous congenital ichthyosiform the disease is the predisposition to infection erythroderma in the literature. However, and plenty of different microorganisms eas- bullous congenital ichthyosiform erythro- ily inoculated and proliferated in the deep derma is also named as epidermolytic hy- fissures. This gives the baby a peculiar bad perkeratose by some authors. One of the odor. Particularly, at adulthood with the ac- most important distinct features between tivation of the apocrine glands this malo- these two clinic forms depends on the clini- dorous condition caused by the microorgan- cal course. Bullous lesions are characteris- isms can be really annoying fort he pa- tic for bullous congenital ichthyosiform tients [4]. erythroderma. In addition to this bullous In this clinic form varied degrees of palmo- form shows an autosomal dominant inheri- plantar involvement can also be observed. tance. On the other hand, nonbullous con- Digovanna and Bale according to a study genital ichthyosiform erythroderma is the have classified bullous congenital ichthyosi- most frequent cause for the collodion baby form erythroderma in 6 groups. Three [2, 3, 4, 5, 6, 10]. The collodion baby mem- groups showed palmoplantar involvement, brane exfoliates in time leaving diffuse fine while the other 3 groups did not [10]. scales covering all the body. But, thick skin sheets can not be compared with the thick and hard scales of lamellar ichthyosis. HARLEQUIN ICHTHYOSIS However, in the temporal region and the Harlequin ichthyosis is the most severe and lower parts of legs areas of thick sheets like striking form of ichthyosiform diseases. lamellar ichthyosis can be seen. Palmoplan- These collodion babies are born covered tar skin involvement is also possible and with a thick skin sheets resembling an ar- deep fissures may ensue at this parts of the mor. In addition, there are deep fissures on skin. But in such cases generalized ery- the skin. The ears and the nose are flat- thema is much more frequently encoun- tened, because of the loss of skin elasticity. tered. Skin barrier dysfunction and secon- The everting of the eyelids and mouth may dary calorie loss may cause developmental cause a remarkable and almost a specific retardation and short structure. Moreover, appearance for this clinical entity. Harle- hypohidrosis may occur, on account of quin ichthyosis is a rare and probably be- sweat gland dysfunction [4]. cause of an autosomal recessive inheri-

Page 3 of 5 (page number not for citation purposes) J Turk Acad Dermatol 2008; 2 (2): 82201r. http://www.jtad.org/2008/2/jtad82201r.pdf tance. In a study consisting of 10 harlequin method giving impressive results in cases babies, the pathogenesis of the disease has with generalized lesions have been notified been reported to be the result of both struc- as a perfect alternative. When systemic tural and functional default of keratin, filag- retinoids came into the practice the mortal- grin and the lamellar body [3, 12]. Keratin, ity rates decreased expressively. In a study, filaggrin and lamellar body are the main acitretin has been used at the dose of 0,5- elements of stratum corneum. Also, in an 0,75 mg/kg/day and the mortality rate of other study, the occurrence of serin-treonin collodion babies has decreased to 11% protein phosphatase enzyme deficiency re- (1986) compared to the numbers of 1960 lated protein phosphatase gene mutations (50%). In cases of lamellar ichthyosis, sys- localized on 11th chromosome were notified temic retinoids have been begun at doses of as an other possible cause of this hazard- 0,5 mg/kg/day and later on the doses have ous disease [3, 13]. eventually been increased to 2 mg/kg/day. It is notified by the authors that the greatly thick scales have improved expressively. Treatment Systemic retinoids have also shown to been In collodion babies fluid and electrolyte bal- effective for cases with congenital ichthyosi- ance and body temperature must be care- form erythroderma. fully monitored. In addition to this the Although, harlequin fetus is rare among all membrane must be lubricated and to the ichthyosiform diseases, without any dis- achieve elasticity and desquamation an pute it is the severest form. Hence, high adequate hydration of the skin are the ma- mortality rates have been observed. None- jor components of management. Suitable theless, in recent years, in these rates have eye care and pain control should be carried also been declined because of the entrance out for the collodion babies with ectropion. of systemic retinoids into the clinical prac- Humidified incubators and water dressings tice and the advanced care methods which followed by emollient agents are the essen- are used in intensive care units [4]. tials of the management. If there is a respi- ratory failure ventilative support for the col- lodion babies may surely be needed. In References cases of epidermolytic hyperkeratose (bul- 1. Harting M, Brunetti-Pierri N, Chan CS et al. Self- lous congenital ichthyosiform erythroder- healing collodion membrane and mild nonbullous ma) which show generalized erythema, bul- congenital ichthyosiform erythroderma due to 2 lae and erosions an antibacterial will be novel mutations in the ALOX12B gene. Arch Dermatol 2008; 144: 351-356. (Abstract) PMID: needed among with the standard therapy. 18347291 The collodion babies with large areas of 2. Gysel VD, Lijnen RL, Moekti SS et al. Collodion skin erosions are always under the risk of baby: a follow-up study of 17 cases. J Eur Acad heavy infections an even sepsis therefore Dermatol Venereol 2002; 16: 472-475 PMID: suitable local and systemic antibacterial 12428840 agents must be cautiously determined and 3. Judge MR. Collodion baby and Harlequin preferred [6]. The drugs such as salicylic ichthyosis. Harper J, Oranje A, Prose N. Textbook of Pediatric Dermatology. Second edition. Malden, acid, lactic acid and propylene glycol may Blackwell Publishing, 2006; 118-125. be applied in order to remove the hyperk- 4. Shwayder T, Akland T. Neonatal skin barrier: eratotic sheets from the skin. But in such structure, function and disorders. Dermatol cases with generalize lesions, particularly in Therapy 2005; 18: 87-103. PMID: 15953139 newborns it must not be forgotten that the 5. Judge MR, McLean WHI, Munro CS. Disorders of application of salicylic acid locally in ex- keratinization. Burns T, Breathnach S, Cox N, treme doses may cause salicylic acid toxe- Griffiths C. Rook's Textbook of Dermatology. 7th ed. mia. Therefore, local remedy in these cases Malden, Blackwell Publishing, 2004; 34.1-34.111. should be cautiously monitorized and car- 6. Fleckman P, Digovanna JJ, The Ichthyoses. Klaus W, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, ried out in this way [4]. Leffell DJ. Fitzpatrick's Dermatology In General However, in the collodion babies with local- . 7th edition. New York, McGraw-Hill ized lesions local retinoic acid and calsi- Medical, 2008; 401-424. potriol treatments have been reported to be 7. Jeon S, Djian P, Gren H. Inability of keratinocytes lacking their specific transglutaminase to form successful [14, 15]. Systemic retinoids cross-linked envelopes: Absence of envelopes as a which are currently a preferred treatment simple diagnostic test for lamellar ichthyosis. Proc

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