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MEND syndrome (male emopamil-binding-protein disorder with neurological defects) is a syndromic ichthyosis with neurological anomalies associated with emopamil-binding protein mutations. This denomination was proposed in 2012 (1). It is an X-linked condition with no mosaicism, unlike Conradi-Hünermann-Happle (CHH) syndrome, which is X-linked dominant and usually lethal in males. Some male cases of CHH syndrome have survived, always associated with mosaicism, reflecting either XXY constitution or a post-zygotic new mutation (2). MEND syndrome presents as collodion baby, with distinct facial features, such as a prominent nasal bridge, low-set ears and large anterior fontanelle. Neurological defects include cerebellar hypoplasia, hypoplasia of corpus callosum, hydrocephalus, hypotonia, development delay and seizures. Polydactyly and syndactyly are also present, characterizing this syndromic ichthyosis (1). MEND syndrome is caused by mutations in the gene encoding the emopamil-binding protein (EBP), located on the short arm of the X chromosome. EBP is a sterol isomerase responsible for one of the final steps in the production of cholesterol. Inhibition of cholesterol biosynthesis leads to the accumulation of sterol precursors and low concentration of intracellular cholesterol, although with normal serum cholesterol level. In cases of CHH syndrome, the high doses of cholesterol precursors are not directly associated with the severity of the phenotype (3, 4).

MEND Syndrome: A Case Report with Scanning Electron Microscopy Findings of the Collodion Membrane