Our patient, a Hispanic baby boy, was born at 37 weeks' gestation after induction of labor. He was delivered vaginally without complication. The newborn's Apgar scores were 8 and 9, and he weighed 2.24 kg.
The child was born with cracked and peeling skin on his face, chest, hands, and feet. The skin on his face and chest had a taut, cellophane-like appearance. He had fine stubble on his scalp and no eyebrows or eyelashes (FIGURE 1A AND 1B).
The mother's medical history and serology were unremarkable. Her prior obstetric history included a female infant who had died at 3 months of age of pneumonia, a skin infection, and dehydration. The mother indicated that the deceased child had "fish scale disease."
* What is your diagnosis?
* How would you manage this condition?
Our patient had the congenital form of ichthyosis--a disorder that is sometimes referred to as fish scale disease. Congenital ichthyosis is a phenotypic expression of several different genotypes, and presents with varying degrees of severity. It is fairly common, occurring in 1 in 250 to 300 people. (1,2) An extremely rare acquired form of ichthyosis may appear in adults, usually as a result of systemic disease or a medication reaction.
The diagnosis of congenital ichthyosis is made based on skin findings. Skin biopsy and genetic testing are typically not necessary for diagnosis.
Congenital ichthyosis is suspected in newborns who are either collodion babies (as was our patient) or who have harlequin ichthyosis. (3)
Collodion babies appear to be encased in a cellophane-like membrane at birth. The surface of the skin of the collodion baby usually appears taut and shiny. An absence of eyebrows, eyelashes, and scalp hair is common in these newborns; scarring alopecia can occur. (4)
The skin undergoes a variable degree of cracking and fissuring. Affected newborns may demonstrate ectropion (everted eyelids), eclabium...
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