A Case of Nonbullous Congenital Ichthyosiform Erythroderma Caused by Compound Heterozygous Mutations in TGM1

Abstract

A 2-day-old Japanese male infant visited our hospital due to having scaly erythematous skin over the whole body. He had presented striking and generalized glistening, taut, and yellowish film stretched over the skin at birth. After shedding of the collodion membrane, generalized scaly erythroderma was apparent. The entire body surface showed hyperkeratosis with fissures. In addition, the eyelids and the lips were tethered and everted, i.e., ectropion and eclabion. These clinical features were consistent with collodion baby. Histological examination of a skin biopsy specimen revealed compact hyperkeratosis without either parakeratosis or acanthosis. The dilatation of small vessels was seen in the upper dermis. Taken together, the diagnosis of nonbullous congenital ichthyosiform erythroderma was made. Genetic examination demonstrated that the patient carried compound heterozygous missense mutations in TGM1 : aG→A change in exon 4 and a C→T change in exon 6, which were inherited from his parents. Both mutations have previously been identified in other families with the disease. The patient was treated with a topical preparation containing 20% urea. Although his skin condition has gradually been improving, continuous careful treatment will be needed, because there is no clear correlation between the mutations and the disease severity or prognosis.