BACKGROUND: Phakomatosis pigmentovascularis type IIb is a syndrome in which extensive nevus flammeus is associated with persistent aberrant mongolian spots. Herein, we describe a patient with phakomatosis pigmentovascularis who had numerous iris mammillations that were initially mistaken for the Lisch nodules of neurofibromatosis type I. OBSERVATIONS: A 5-year-old girl with phakomatosis pigmentovascularis type IIb was found to have bilateral melanosis oculi and numerous iris mammillations. The mammillations differed from Lisch nodules in their smaller size, stellate shape, darker color, increased number, and more regular distribution. Similar iris mammillations have been described in patients with melanosis oculi accompanying nevus of Ota. CONCLUSIONS: Patients with phakomatosis pigmentovascularis can present with the clinical manifestations of one or more of the following: Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and melanosis oculi; our patient had clinical features of all three of these entities. In addition, the presence of iris mammillations in this patient can be explained by their known association with melanosis oculi.
BACKGROUND:Phakomatosis pigmentovascularis type IIb is a syndrome in which extensive nevus flammeus is associated with persistent aberrant mongolian spots. Herein, we describe a patient with phakomatosis pigmentovascularis who had numerous iris mammillations that were initially mistaken for the Lisch nodules of neurofibromatosis type I. OBSERVATIONS: A 5-year-old girl with phakomatosis pigmentovascularis type IIb was found to have bilateral melanosis oculi and numerous iris mammillations. The mammillations differed from Lisch nodules in their smaller size, stellate shape, darker color, increased number, and more regular distribution. Similar iris mammillations have been described in patients with melanosis oculi accompanying nevus of Ota. CONCLUSIONS:Patients with phakomatosis pigmentovascularis can present with the clinical manifestations of one or more of the following: Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and melanosis oculi; our patient had clinical features of all three of these entities. In addition, the presence of iris mammillations in this patient can be explained by their known association with melanosis oculi.
Authors: Akash Kumar; Diane B Zastrow; Elijah J Kravets; Daniah Beleford; Maura R Z Ruzhnikov; Megan E Grove; Annika M Dries; Jennefer N Kohler; Daryl M Waggott; Yaping Yang; Yong Huang; Katherine M Mackenzie; Christine M Eng; Paul G Fisher; Euan A Ashley; Joyce M Teng; David A Stevenson; Joseph T Shieh; Matthew T Wheeler; Jonathan A Bernstein Journal: Am J Med Genet A Date: 2019-03-28 Impact factor: 2.802
Authors: Solmaz Abdolrahimzadeh; Vittorio Scavella; Lorenzo Felli; Filippo Cruciani; Maria Teresa Contestabile; Santi Maria Recupero Journal: Biomed Res Int Date: 2015-09-16 Impact factor: 3.411