Case Report
Phakomatosis Pigmentovascularis Type II: Case Report
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We report a case of a 12 year old Asian girl. The patient presented to our OPD with congenital erythematous lesions on her face, trunk and both upper and lower extremities. There are large bluish-gray patches on trunk and extremities.
She was born full term through casearean section; weighed 3.1 kg and her mother experienced no pathological events during pregnancy and delivery. The family history was unremarkable for lesions. The general physical examination revealed bilateral naevus of ota with melanosis bulbi on her face and generalized port-wine stain (naevus flammeus) on her body. In addition, extensive bluish gray hyperpigmented patches (Mongolian spots) were located on the trunk and extemities. Developmental growth was achieved normally MRI of brain did not show abnormal findings. There is scoliosis detected both clinically and on lumbar spine x-ray. There is short 4th torso of right foot (Figures 1-3).
In 1947, Ota et al. first described PPV as a disorder characterized by the combination of melanocytosis and capillary malformation [1]. Hasegama and Yasuhara classified PPV into four types according to combination of pigmentary skin lesions and naevus flammers [2]. In 2003 that is characterized by cutis marmorata telangiectatica [3,4].
Phacomatosis pigmento vascularis is defined as coexistence of widespreasd vascular naevus and extensive pigmentary naevus.
More than 250 sporadic cases of phacomatosis pigmentovascularis have been reported so far, mainly in Asians or Asian –related population [5]. Mutations in genes related to antigenic pathways (RAS, MAPK, mToR, PI3K/AkT and GNAQ) have been recently identified as the causes of this complex phenotype [6]. In many cases, mutations in two different genes may coexist representing, the classic example of “twin spotting” phenomenon [7]. PPV is classified in four groups on the basis of phenotypes (Table 1).
Ocular
Melanosis bulbi, glaucoma, iris mammillation, megalocornea buphthalmos, strabismus and hyperpigmentation of conjunctiva, sclera, episclera, iris, trabecular meshwork and choroid.
Musculoskeletal
Limb hypertrophy, klippel trenaunay type abmnormelitas, hemifacial hyphypertrophy, hemicorporal hypertrophy, macrocephaly microcephaly, scoliosis.
CNS
CNS anomalies include seizures, cognitive delay cerebral atrophy, hydrocephalus, sensory neural deafness, intracranial hypertension as well as migraine and intra-cerebral vascular malformations.
More rarely, PPV has associated with structural and or vascular renal anomalies hepato-splenomegaly, pyogenic granuloma cavernous haemangioma, portal hypertension umbilical hernia, hypoplasia of leg veins and hypo or hyperactivity of immune system.
1. Ota M, Kawamura T, Ito N (19947) Phakomatosis pigmentovascularis. Japan J Dermatol 57: 1-3.
2. Hasegawa Y, Yasuhara M (1985) Phakomatosis pigmentovascularis type Iva. Arch Dermatol 121: 651-655.
3. Strano S, Pratico AD, Polizzi A, Garozzo MT, Pirrone C, et al. (2018) Phakomatosis pigmentovascularis. J Pediatr Neurol 16: 305-312.
4. Happle R, Steijlan PM (1989) Phacomatosis pigmentavascularis interpreted as a phenomenon of twin spots. Hautarzt 40: 721-724.
5. Vidaurri-De la CH, Tamayo-Sanchez L, Duran-Mckinster C, Orozco-Covarrubias Ml, Ruiz-Maldonado R (2003) Phakomatosis pigmentovascularis II A and II B: Clinical finding in 24 patients. J Dermatol 30: 381-388.
6. Shirley MD, Tang H, Galione CJ, Baugher JD, Frelin LP, et al. (2013) Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368: 1971-1979.
7. Happle R (1987) Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dematol 16: 899-906.
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Table 1
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