Could “Islets of Sparing” Be a Clue for Neutral Lipid Storage Disease with Ichthyosis in Patients with Congenital Ichthyosiform Erythroderma?

The prevalent form of ichthyosis in neutral lipid storage disease (NLSDI) is nonbullous congenital ichthyosiform erythroderma (CIE) characterized by fine, whitish scales on erythematous skin over the whole body. Here, we report a late-diagnosed, 25-year-old woman with NLSDI presenting with diffuse erythema and fine whitish scales throughout the body with patches of apparently normal skin, “islets of sparing” on her lower extremities. We observed that the size of the normal skin islets changed with time, and even the entire lower extremity was covered with erythema and desquamation like the rest of the body. Frozen section histopathological examinations were made from lesional skin and normal-looking skin; no difference was observed in terms of lipid accumulation. The only noticeable difference was the thickness of the keratin layer. In CIE patients, observation of patches of apparently normal skin or “islets of sparing” might be a clue for NLSDI to be distinguished from other CIE conditions.