Lamellar Ichthyosis (Nonbullous Congenital Ichthyosiform Erythroderma, Nonbullous CIE)

Figure 2.33 A: Lamellar ichthyosis* B: Lamellar ichthyosis* C: Lamellar ichthyosis* * Courtesy of Dr. Paul Getz

(Figure 2.33A–C)

• AR, mutation in TGM1 gene (transglutaminase deficiency) or ABCA12 mutation (ATP binding cassette A12)
• Presents at birth with collodion membrane with underlying erythroderma → evolves to thick, dark scales with prominent flexural involvement; no improvement with age
• Associated ectropion, eclabium, scarring alopecia
• PPK, heat intolerance (heat stroke), hypernatremia
• Histology: massive orthokeratotic hyperkeratosis, acanthosis