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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.
