Epidermolytic Hyperkeratosis (EHK or Bullous CIE)

Figure 2.34 A: EHK* B: EHK* C: EHK* * Courtesy of Dr. Paul Getz

(Figure 2.34A–C)

• AD, keratin 1 and keratin 10 gene mutations
• Presents at birth with initial erythroderma, bullae, denuded skin → evolves into verrucous hyperkeratotic plaques, flexural involvement, PPK
• Histology: massive orthokeratotic hyperkeratosis, hypergranulosis, cytolysis of suprabasal/granular layers, clumped tonofilaments (keratin intermediate filaments)
• Failure to thrive, hypernatremic dehydration, recurrent infections (bronchopneumonia, sepsis)