Phacomatosis Pigmentokeratotica without Extracutaneous Abnormalities: A Case Study Involving a Preterm Baby

Abstract

Phacomatosis pigmentokeratotica (PPK) is a rare syndrome defined by the association of an organoid nevus occasionally with sebaceous differentiation, a speckled lentiginous nevus, and other extracutaneous anomalies. A preterm male infant of only 830 g at 27 week gestational age had an organoid nevus showing sebaceous differentiation. Also, he had multiple speckled-lentiginous nevus. Correlating the observed clinical presentation with the histopathological findings, the diagnosis of PPK was established. There have been less than 10 cases of PPK without extracutaneous manifestation. We present an uncommon case of a preterm patient with PPK who had no extracutaneous abnormalities.

Phacomatosis pigmentokeratotica without extracutaneous abnormalities: 12-year follow-up

“…The majority of patients with PPK have extracutaneous involvement, most commonly ocular (strabismus and ptosis), neurologic (hemiparesis, hyperhidrosis, dysesthesia), and musculoskeletal (scoliosis, muscular weakness) abnormalities 4 . Approximately 30 cases of PPK have been reported in the literature, and fewer than 10 of these cases describe patients without extracutaneous involvement 5 …”