Gupta Aastha, Khurana Ananta, Malhotra Purnima, Sardana Kabir
Department of Dermatology, PGIMER Dr Ram Manohar Lohia Hospital, New Delhi, India.
Department of Pathology, PGIMER Dr Ram Manohar Lohia Hospital, New Delhi, India.
Indian Dermatol Online J. 2019 Sep 26;11(1):91-93. doi: 10.4103/idoj.IDOJ_112_19. eCollection 2020 Jan-Feb.
Phakomatosis pigmentovascularis (PPV) is characterized by the association of a vascular nevus with a pigmentary nevus and is divided into five subtypes. PPV type II or Happle's phakomatosis cesioflammea is the most common subtype comprising of nevus flammeus along with pigmentary nevus in the form of aberrant Mongolian spots, nevus of Ota or less frequently nevus of Ito. It is estimated that around 50% of patients with PPV have systemic involvement, most frequently involving the central nervous system and eye. Other associated features include vascular abnormalities such as Sturge-Weber syndrome, and klippel trenaunay syndrome (KTS), and cutaneous lesions such as nevus anemicus (most common), cafe'-au-lait macules, generalized vitiligo and congenital triangular alopecia (CTA). There are only four reports of PPV associated with CTA in literature, and only a single previous report with associated KTS and this association has not been reported previously from India. We describe a case of a 30-year-old male having phakomatosis pigmentovascularis type II along with klippel trenaunay syndrome and associated with congenital triangular alopecia.
色素血管性斑痣性错构瘤病（PPV）的特征是血管痣与色素痣并存，可分为五个亚型。II型PPV或哈普尔色素血管性斑痣性错构瘤病是最常见的亚型，由火焰状痣以及呈异常蒙古斑、太田痣形式的色素痣组成，较少见的是伊藤痣。据估计，约50%的PPV患者有全身受累，最常见的是累及中枢神经系统和眼睛。其他相关特征包括血管异常，如斯特奇-韦伯综合征和克-特综合征（KTS），以及皮肤病变，如贫血痣（最常见）、咖啡斑、泛发性白癜风和先天性三角形秃发（CTA）。文献中仅有4例PPV与CTA相关的报道，之前仅有1例与KTS相关的报道，且此前印度尚未报道过这种关联。我们描述了1例30岁男性患有II型色素血管性斑痣性错构瘤病，同时伴有克-特综合征并合并先天性三角形秃发的病例。
