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Harlequin baby

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  • lamellar ichthyosis is inherited as an autosomal recessive with an estimated incidence of less than 1 per 300,000
  • usually it starts at birth or within the first 3 months. It begins as a generalised erythema and subsequently the skin becomes thickened and scaly. The entire cutaneous area may become scaly - including flexures, palms and soles
  • the scales are large and parchment-like. They may be verrucous especially around the joints
  • additional features in some patients include palmoplantar hyperkeratosis, ectropion and scarring alopecia
  • sweating may be abnormal and the patient hyperpyrexial. Skin infections are common
  • the genetic mutation causing lamellar ichthyosis is, at present, unknown

It may present as a "collodion baby" - premature, and with shiny skin which feels hard and rigid.

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