Self-Improving Collodion Baby

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

TGM1, ALOX12B, ALOXE3, CYP4F22

Drugs

Liarozole, Recombinant human transglutaminase 1 encapsulated into liposomes, Talarozole

Liarozole, Recombinant human transglutaminase 1 encapsulated into liposomes, Talarozole, Tazarotene, Trifarotene, replication-incompetent, non-integrating, herpes simplex virus 1 vector expressing the human transglutaminase-1 enzyme

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Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.

Epidemiology

The exact prevalence is unknown. Approximately 25 cases have been reported in the literature.

Clinical description

Affected babies are born in a collodion membrane. They also display ectropion and eclabium and a limited joint mobility. After the shedding of the membrane, patients present with mild scaling.

Etiology

SCHB is due to mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive.