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At a glance

An inherited disorder apparent already at birth and present throughout life. The neonate 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 sequelae are life-threatening sepsis and dehydration by protein and electrolyte loss.

Synonyms

Ichthyosis Congenita; Lamellar Exfoliation of Newborn; Desquamation of Newborn; Collodion Fetus.

History

The term was first used by Arnold M. Seligman (1912-1976), an American biochemist, in 1941. Among this group of keratinizing disorders are several heterogeneous conditions including non-bullous congenital ichthyosiform erythroderma and lamellar ichthyosis.

Incidence

Estimated in the range of 1-3:300,000 live births. Approximately 300 cases have been described in the literature.

Genetic inheritance

Autosomal recessive. Collodion Baby is a descriptive term for infants born encased in membrane-like, thick scales but is caused by various types of autosomal recessive inherited congenital ichthyosis. Mutations in at least 12 different genes can cause this disorder, but in at least 15% of affected families none of these known pathogenic variants can be identified. Up to two-thirds of all cases are caused by mutations in the TGM1 (Transglutaminase 1) gene, which has been mapped to chromosome 14q12. Collodion Baby refers to the clinical skin findings at birth rather than a disease entity on its own. This group of keratinizing disorders contains several heterogeneous conditions including non-bullous congenital ichthyosiform erythroderma, lamellar ichthyosis and ☞Harlequin Syndrome. Infants with lamellar ichthyosis often present as Collodion Babies at birth. The collodion membrane will then be replaced by white-brown, plate-like scales covering the entire body. The vast majority of infants with congenital ichthyosiform erythroderma are born as Collodion Babies and once they have shed the collodion membrane, they will develop generalized erythroderma covered by fine, white scales. It is typically milder than lamellar ichthyosis, but can be associated with painful palmoplantar keratoderma in more severe cases.

Pathophysiology

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.

Diagnosis

Based on the characteristic clinical picture. Histopathological examination of skin biopsies shows a compact, hyperkeratotic stratum corneum and normal underlying epidermis. In the second stage of the disease (ie, 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 (eg, trichothiodystrophy, trichorrhexis invaginata), and finally laboratory tests (biochemical/metabolic screening, mutation screening).

Collodion Baby Syndrome: Newborn with the most severe form of collodion baby.

Collodion Baby Syndrome: Generalized scaling of ...

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