Figure 1.

Clinical images illustrating the broad spectrum of dermatological phenotypes caused by PTPN11 mosaicism. See Table 1 for the noncutaneous aspects of disease phenotypes. Of note, both macular and papular nevus spilus are seen, with substantial variation between patients. (a‒c) Co-occurrence of some separate and some overlapping pigmentary (nevus spilus) and vascular (capillary malformation) birthmarks in a case of PPV spilorosea. (d‒e) Capillary malformation without pigmentary abnormalities. (f) PPV spilorosea showing juxtaposition and some degree of overlap of both types of birthmarks. (g) Single nevus spilus associated with stage 4 neuroblastoma. (h, i) Facial and truncal nevus spilus in a segmental distribution without a vascular phenotype, and (j) mixed macular and papular nevus spilus in an older subject who developed two primary melanomas within the affected region. Pigmentary lesions are highlighted by a blue solid outline, and vascular lesions are highlighted by a red solid outline. Patients and/or parents/guardians provided written consent for the publication of images. PPV, phakomatosis pigmentovascularis. Patients and/or parents/guardians provided written consent for the publication of images.