Clinical manifestation

Condition present at birth; skin severely thickened with large, shiny plates of hyper-keratotic scale; deep fissures separate the scales; severe ectropion, leaving the conjunctiva at risk for desiccation and trauma; pinnae sometimes small and rudimentary, or absent; severe traction on lips causes eclabium and fixed open mouth; nasal hypoplasia and eroded nasal alae; limbs encased in the thick membrane, causing flexion contractures of the arms, legs, and digits; limb motility poor or absent; hypo-plasia of the fingers, toes, and fingernails; temperature dysregulation; heat intolerance; occasional hyperthermia; restriction of chest-wall expansion sometimes results in respiratory distress, hypoventilation, and respiratory failure; dehydration from excess water loss

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