Phacomatosis pigmentokeratotica: Two cases series of a neurocutaneous rarity from Indonesia

• Main Authors: Retno Danarti, Nafiah Chusniyati, Yuli Sulistiyowati
• Format: Article
• Language: English
• Published: Universitas Gadjah Mada 2019-09-01
• Series: Journal of the Medical Sciences
• Subjects: speckled lentiginous naevus, papular naevus spilus, sebaceous naevus, organoid naevus, lines of blaschko
• Online Access: https://jurnal.ugm.ac.id/bik/article/view/45860

Phacomatosis pigmentokeratotica (PPK) is a distinct epidermal naevus  syndrome. The syndrome is characterized by the coexistence of an organoid  naevus with sebaceous differentiation arranged along Blaschko’s lines, a  papular naevus spilus arranged in a checkerboard pattern, in association with  other extracutaneous anomalies. We report on two cases of PPK. The first  case was an 11-year-old girl with sebaceous naevus on the right side of the  body following the lines of Blaschko present since birth, whereas a papular  naevus spilus involving the dorsal area of the neck was noted at 8 years of age.  The second case was a 15-year old girl presented with sebaceous naevus on  her face and neck and papular naevus spilus involving left side of her chest.  Electroencephalography (EEG) of both cases revealed abnormal irritative  epileptiform waves, and brain mapping showed symmetrical structures and  no focus. The diagnoses of our two cases were based on clinical pictures of the  coexistence of sebaceous naevus arranged along Blaschko’s lines, a papular  naevus spilus arranged in a checkerboard pattern, and EEG anomalies. To  our knowledge, these cases were first reported in Indonesia. The association  with various extracutaneous manifestation is often, as well as the possibility of  malignant transformation.Hence a close follow-up of PPK patients is important,  which may help in early recognition of the development of extracutaneous  anomalies and the possibility of malignant transformation.