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An inherited syndrome apparent at birth and present
throughout life. The newborn is born encased in a collodion-like membrane
that sheds within the next 12 weeks, revealing generalized scaling with
variable redness of the skin. Frequent consequences are life-threatening
sepsis and dehydration by protein and electrolyte loss.
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Ichthyosis Congenita; Lamellar Exfoliation of Newborn;
Desquamation of Newborn; Collodion Fetus.
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The term was first used by Arnold M. Seligman, an American
biochemist, in 1841. It is a descriptive term for infants born encased in a
membrane-like thick scale rather than a disease entity on its own. Among
this group of keratinizing disorders are several heterogeneous conditions
including nonbullous congenital ichthyosiform erythroderma and lamellar
ichthyosis.
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Estimated 1:300,000 live births. Approximately 300 cases
have been described in the literature.
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Autosomal recessive inheritance.
The gene is located on 14q11.2.
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The pathogenesis of “collodion baby” has not
been clarified, but there is increased epidermal germinal cell activity and
a failure of stratum corneum cells to separate.
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Characteristic clinical picture. Histopathologic
examination of skin biopsies shows a compact, hyperkeratotic stratum corneum
and normal underlying epidermis. In the second stage of the disease (i.e.,
after shedding of the collodion membrane), the etiologic diagnostic approach should
consist of a thorough family history (including parental consanguinity), a
complete clinical examination (inspection of the skin, other associated
findings), histology of the skin and hair (e.g., trichothiodystrophy,
trichorrhexis invaginata), and finally laboratory tests
(biochemical/metabolic screening, mutation screening).
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Collodion babies are frequently born premature.
The condition may be self-limiting with shedding of the parchment-like
membrane within the first 1 to 4 weeks (maximally 12 weeks) of life,
however, the majority of children eventually progress to a form of
ichthyosis (i.e., congenital erythrodermic ichthyosis in 48%, lamellar
ichthyosis in 12%, and dominant ichthyosis vulgaris in 10%), whereas
only 10% of the patients eventually develop normal skin. Often the
clinical course is complicated by fungal and bacterial skin infections, that may result in sepsis.
Hands, feet, and the conjunctivae are the favorite sites of infections. High humidity
and application of nonocclusive lubricants may facilitate shedding of the membranes.
Other complications in the neonatal period include severe hypothermia, dehydration, and
hypernatremia. Ectropion and/or eclabium, flattened ears and nose, and characteristic
fixation of the lips in an O-shaped form are additional clinical findings. Respiratory
distress frequently occurs. Mortality now is below 10%, but the condition
remains serious.
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Assess hydration state: ...