Research Report

Collodion Baby: Case Report  

Houssem Ragmoun1 , Abdrahmen Daadoucha2 , Najeh Benhlima3 , Aabir Agili1
1 Department of Obstetric Gynecology Ibn El Jazzar Hospital Kairouan, University hospital assistant in gynecology obstetrics, Ibn El Jazzar street, Kairouan 3100, Tunisia
2 Department of Radiology Ibn El Jazzar Hospital Kairouan, University hospital assistant in radiology, Ibn El Jazzar street, Kairouan 3100, Tunisia
3 Department of Cardiology Ibn El Jazzar Hospital Kairou, University hospital assistant in cardiology, Ibn El Jazzar street, Kairouan 3100, Tunisia
Author    Correspondence author
International Journal of Clinical Case Reports, 2017, Vol. 7, No. 12   doi: 10.5376/ijccr.2017.07.0012
Received: 16 Aug., 2017    Accepted: 09 Oct., 2017    Published: 20 Oct., 2017
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This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Preferred citation for this article:

Ragmoun H., Daadoucha A., Benhlima N., and Ajili A., 2017, Collodion baby: case report, International Journal of Clinical Case Reports, 7(12): 49-52 (doi: 10.5376/ijccr.2017.07.0012)


The purpose of this work is to analyse the present data concerning epidemiological aspects, therapeutic possibilities as well as prenatal diagnosis of collodion baby. We report the case a woman, having a case index in the family and that consulted for a threat of premature childbirth to 29 weeks of amenorrhoea. Following have been marked by a premature childbirth of masculine sex newborn, presenting dermatological lesions typical of collodion baby, whose evolution was quickly fatal since first hours of life. Collodion baby is a severe form of congenital ichthyosis presents at birth. The clinical table is often characteristic. The prognosis depends on the management in the early neonatal period. This disorder usually evolves into a nonbullous congenital ichthyosiform erythroderma. Thanks to techniques of molecular biology, the prenatal diagnosis is given back possible since the 10-12 weeks of amenorrhoea, permitting a genetic counseling.

Congenital ichthyosis; Collodion baby; Genetic diagnosis


Congenital ichtyosis type baby collodion is a rare genetic cutaneous disease (Hohl, 2004). Its name comes from the Greek "ichthys" meaning "fish" and referring to the clinical appearance of a scaly skin (Alam, 2004). It causes hyperkeratinization of the epidermis. The skin then becomes thick and tough, with deep cracks on its surface (Larrégue et al., 2008).


This initial expression is common to the various disorders of epidermal differentiation and can be observed in different types of ichthyoses. This is the preferential starting mode of the large recessively transmitted ichthyoses (Saurat, 2004).


The condition is due to the retention of an abnormal corneal layer in utero (Mallory, 2007). Indeed, the pathological process affects the formation, maintenance and function of the stratum corneum (Williams and Elias, 2000).


The prognosis of the disease depends on several parameter: the degree of initial attack, duration of desquamation, and the underlying ichthyosis.


1 Observation

F.A, 34 years old, with no significant pathological history, having as gyneco-obstetric history a late abortion in the fourth month and a preterm birth at 28 SA of a baby weighing 800 g and presenting generalized dermatological lesions recalling the collodion baby. She consulted us for pelvic pain type of uterine contractions on a 33 amenorrhea week’s pregnancy.


On clinical examination, uterine contractions were regular and painful, uterine height at 27 cm and vaginal touch a shortened cervix, open to a finger with bulging Water pouch.


Obstetric ultrasound showed an evolutionary mono-fetal pregnancy whose biometry is consistent with the term. Moreover, no morphological abnormality was detected on this examination. The pre-tocolytic assessment revealed no anomalies. Antenatal corticosteroid therapy based on Celestian and a tocolysis with parenteral Bricanyl had been introduced. The evolution was marked by a premature birth within 24 hours of a male baby, birth weight 1 600 g, with a taut, glossy skin resembling collodion with an ectropion, an eversion of the lips, wrinkled auricular flaps and the ends of fingers are slivered (Figure 1). Its evolution was rapidly fatal within hours. The fetal-pathological examination had concluded with a collodion fetus. This is a case of recurrent congenital ichthyosis.


Figure 1 Morphological aspect of a Baby Collodion at birth


2 Discussion

The ichthyosis are described as a heterogeneous group of diseases having as common characteristics the formation of an abnormal stratum corneum with hyperkeratotic skin lesions which result in generalized desquamation with or without epidermal hyperproliferation or inflammation of the dermis (Hohl, 2004; Alam, 2004).The baby collodion is the congenital and initial expression of many forms of ichthyosis which it does not allow to prejudge the severity. The child, at birth, has a skin similar to dry collodion covering the entire epidermal surface. Exfoliation begins early with cracks in the collodioned membrane. The cracks may remain superficial, or deepen and touch the superficial dermis (Larrégue et al., 2008). Skin is erythematous, glossy stretched and glazed and responsible for ectropion, éclabion, flattened helix, and flexion of the fingers and toes, the folds are cracked, sometimes erosive. Semi-mucous membranes, nails and hair are normal. In our observation, the dermatological lesions were fairly characteristic of the condition, which allowed us to make the diagnosis upon clinical examination. Moreover, the recurrence of this syndrome within a family until the disease-free, orient us towards a genetic impairment transmitted in the autosomal recessive mode.


Pathogenesis is not well known. Certain socio-cultural specificities are at the origin of a high rate of consanguinity and a higher frequency of these hereditary disorders of the keratinization. A minority of collodion babies, associated with transglutaminase keratinocyte deficiency (TGK) by mutation of transglutaminase 1, are spontaneously resolving (Mazereeuw‐Hautier et al., 2009). Indeed, this benign variant follows an autosomal recessive transmission and a case caused by a particular mutation with minimal deficiency of keratinocytic transglutaminase has been reported (Saurat, 2004). The evolution is very variable and unpredictable. Indeed, a congenital array of collodion baby has been reported in 53% of dry congenital erythroderma and 12% of lamellar ichthyosis. In 10% of cases, the collodion baby may be the first sign of a common ichthyosis.


In 10% of cases, it is a self-healing baby collodion, whereas in 20% of cases, it can be a Gaucher disease or a Trichothiodystrophy showing at birth a phenotype of baby Collodion (Larrégue et al., 1986; Ay, 1988; Akiyamam, 1999). The collodion baby is a newborn at high risk. It is often born prematurely ((Hohl, 2004)), as our case illustrates. Neonatal resuscitation management has reduced the mortality rate to less than 10% (Bourrat, 2007). This mortality decreased from 33% in 1976 to 11% in 1984 (Saurat, 2004).


In one third of cases, the disease is fatal, secondary to infection or metabolic disorders (Van Gysel et al., 2002).


Collodion baby syndrome should be differentiated from collodioned hyperkeratosis of post-maturity, Christ-Siemens-Touraine syndrome or X-linked hypohidrotic ectodermal dysplasia, as well as malignant keratoma (fetus harlequin);the most severe form of known ichthyosis, in which the fetus appears covered with a rigid and fissured "shell" and whose the evolution of which is most often fatal in the first days of life. 


The positive diagnosis of baby collodion, as well as differential diagnoses, is primarily clinical. The study of the cutaneous biopsy will confirm the orthokeratosic hyperkeratosis. The study of the enzyme activity of TGK on culture or by immunofluorescence on cut of skin and the search for mutation of the gene of the TGK can be carried out early allowing a rapid diagnosis and consultation of genetic counseling.


Indeed, the severity of this form of congenital ichthyosis justifies the prenatal diagnosis, possible by genomic PCR reaction on chorionic villus material and the need for genetic counseling (Akiyama et al., 2007; Cao et al., 2009).


Antenatal diagnosis can be made if there is a history of severe ichthyosis in the family, by fetoscopy and fetal skin biopsy from the twentieth week of amenorrhea, but at best prenatal diagnosis is possible from 10-12 weeks of pregnancy by genomic PCR on chorion villi material (Hohl, 2004).


Molecular diagnosis is preferred because alternative methods, including fetoscopy and cutaneous biopsy of the fetus, are delayed and risky (Alam, 2004).


Antenatal diagnosis will be proposed to families with at least one affected member. Molecular diagnosis of the index case should be made before pregnancy is started; In order to allow an early antenatal diagnosis (trophoblast biopsy at 12 weeks of amenorrhea) (Bourrat, 2007). A genetic counseling consultation will inform parents and propose a prenatal diagnosis strategy for subsequent pregnancies.


The prognosis of the collodion baby depends on several parameters. Indeed, in the neonatal period, it is function of the complications related to the condition of the baby collodion, and more particularly to the hydroelectrolytic, infectious and respiratory complications. In the long term, it depends on the frame in which the baby collodion falls (Bodemer, 2008).


Most of the treatment is symptomatic. It aims to reduce hyperkeratosis and to control possible complications both in the neonatal period and later: hydration, lubrication (emollients) and keratolysis (keratolytics) (Bodemer, 2008).


The clinician will not limit his action to dermal involvement but will try to prevent the consequences (functional, sensory and psychological) that can be very decisive for the future of these children.


Management should be specialized. It interested the entire family, with a genetic counseling that includes information on current prenatal diagnosis options for subsequent pregnancies.


3 Conclusions

The birth of a baby collodion represents a heavy burden for the family and society. Antenatal screening is a critical issue. The genetic deciphering of the various varieties of ichtyoses is progressing at a frantic pace. A specific diagnosis on an individual or family with congenital ichthyosis helps to establish a prognosis and is important for genetic counseling.


Authors’ contributions

R.H: Editing and supervision,read and approved the final manuscript. D.A: participated in the drafting of the observation, read and approved the final manuscript. B.N: participated in the drafting of the discussion, read and approved the final manuscript. A.A: checking references. All authors read and approved the final manuscript.



We thank the pediatric department of Ibn El Jazzar Hospital, Kairouan. 



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Van Gysel D., Lijnen R.L.P., Moekti S.S., De Laat P.C.J., and Oranje A.P., 2002, Collodion baby: a follow‐up study of 17 cases, Journal of the European Academy of Dermatology and Venereology, 16(5): 472-475



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