Phakomatosis pigmentovascularis with Sturge-Weber syndrome: a case report

We describe here a Turkish girl with pigmentovascularis type 2b, consisting of disseminated Mongolian-spot-like maculae and unilateral Sturge-Weber angiomatosis.     

Phakomatosis pigmentovascularis IIb with renal anomaly

Phakomatosis pigmentovascularis (PPV) is a rare congenital naevoid syndrome; most case reports originate in Japan. The major clinical manifestations consist of coexisting extensive naevus flammeus and pigmentary naevus with or without systemic involvement. We report an 8-year-old Taiwanese boy, who was born with extensive naevus flammeus and other anomalies comprising persistent aberrant Mongolian spot-like pigmentary patches, leg-length discrepancy, pelvic obliquity, scoliosis and bilateral melanosis oculi bulbi. Further investigation also revealed agenesis of the right kidney. The cutaneous lesions remained unchanged over a 3-year follow-up period. Within the classification of PPV, this boy's disorder represents an example of PPV IIb. Right kidney agenesis, which has never been observed in PPV, may be an incidental finding.     

Phakomatosis pigmentovascularis type IIIb associated with moyamoya disease

We diagnosed phakomatosis pigmentovascularis type IIIb in an 11-month-old baby who had a giant nevus spilus, a nevus flammeus, and moyamoya disease. Development of the patient was normal until 6 months of age when he developed a sudden onset of focal seizures and left hemiparesis. This patient represents the sixth case of phakomatosis pigmentovascularis type IIIb, including three cases in the Japanese literature, reported thus far. However, to our knowledge, this is the first case with an association to moyamoya disease.     

Phakomatosis pigmentovascularis type IVa

Phakomatosis pigmentovascularis was first reported in 1947. We describe a 1-year-old Japanese girl who, since birth, has had three nevoid skin disorders: nevus flammeus, nevus spilus, and aberrant mongolian spots. No systemic disease of any kind has been present. We believe that this phakomatosis, which we have named phakomatosis pigmentovascularis type IVa, does not reflect the merely coincidental coexistence of three kinds of nevi.     

色素血管性斑痣性错构瘤病

报告1例色素血管性斑痣性错构瘤病。患儿男,12岁。面部、胸部鲜红斑痣、躯干、四肢散在蒙古斑,双眼虹膜、巩膜及结膜色素沉着,视力障碍,伴智力低下。     

色素血管性斑痣性错构瘤病

色素血管性斑痣性错构瘤病(phakomatosis pigmento-vascularis,PPV)是皮肤血管痣合并广泛性黑素细胞痣或表皮痣的一种综合征.该病例最早报道于1910年,1947年Ota首次将本病作为一个综合征进行报道[1],后来陆续有散发及群组病例报道[1].     

合并Klippel-Trenaunay综合征及Sturge-Weber综合征的色素血管性斑痣性错构瘤病1例

患儿男，13岁，因全身弥漫红斑、青斑13年，癫痫7年，青光眼5年就诊。患儿出生时头面、右上肢、左下肢红色斑片，背部青色斑片，胸腹部白色斑片，未予治疗。随患儿生长斑片等比例扩大；左下肢生长迅速，较对侧更粗、更长……     

Phakomatosis pigmentovascularis Typ II a (Phakomatosis cesioflammea)

Ohne Zusammenfassung     

Phakomatosis Pigmentovascularis Presenting with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ‘a’ present only with cutaneous form and subtype ‘b’ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination.     

Phakomatosis pigmentovascularis and Lisch nodules. Relationship between Von Recklinghausen and phakomatosis pigmentovascularis?

In 1947, Ota described a malformative syndrome associating a vascular component (nevus flammeus) with melanocytic or epidermic nevi, which he named phakomatosis pigmentovascularis (PPV). We will discuss the case of a 10-year-old boy presenting giant nevus flammeus, nevus spillus, asymmetry in the development of both lower limbs, characteristic of PPV, together with interventricular communication and Lisch nodules, representative of Von Recklinghausen's disease. We believe that this case can be classified as PPV type IIb, associated with Lisch nodules and rarely described in Caucasian individuals.