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Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma.

Yang Y, Guo X, Xu J, Ye Y, Liu X, Yu M - Medicine (Baltimore) (2015)

Bottom Line: Bilateral triangular alopecia was found on the temporal scalp.Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs.Infantile glaucoma was found in both eyes.

View Article: PubMed Central - PubMed

Affiliation: From the State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

ABSTRACT
Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis.We describe 3 cases of PPV combined with bilateral Sturge-Weber syndrome (SWS), Ota nevus, and congenital glaucoma.Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh. Bilateral triangular alopecia was found on the temporal scalp. The diagnosis of Ota nevus was made by the bilateral scleral malanocystosis. Increased intraocular pressure, enlarged cornea, and pathologic optic disc cupping supported the diagnoses of infantile bilateral glaucoma. Case 2 was a 4-year-old boy. Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography showed choroidal hemagioma. OCT scan showed increased choroidal thickness. The bilateral triangular alopecia on the child's temporal scalp was similar to that of Case 1. Cases 1 and 2 presented with port-wine stain patches that were consistent with the characteristic manifestation of PPV type IIb. However, the CMTC of Case 3 met the diagnostic criteria for PPV type Vb.Case 1 was treated with trabeculotomies in both eyes. For Cases 2 and 3, surgical interventions were not considered due to the high risks of antiglaucomatous operation complications. We prescribed them antiglaucoma indications.The simultaneously coexistence of PPV with SWS, Ota nevus, and congenital glaucoma is rare. In the clinic, additional detailed examinations and tests of PPV patients to exclude other ocular abnormalities or extraocular involvements are necessary.

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Related in: MedlinePlus

Case 2. Port-wine stains distributed along chest, arms, and legs. Greyish blue patches (Mongolian spots) spreading over abdomen (A). Port-wine stains were found on the face along the 3 branches of trigeminal nerve (B). Bilateral scleral malanocystosis (C). Port-wine stains distributed along back, arms, and legs. Mongolian spots spreading over back (D). Enlarged optic disc cup on the right eye (E). Enlarged optic disc cup on the left eye (F). Increased choroidal thickness in the right eye on OCT scan (G). Increased choroidal thickness in the left eye on OCT scan (H).
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Figure 2: Case 2. Port-wine stains distributed along chest, arms, and legs. Greyish blue patches (Mongolian spots) spreading over abdomen (A). Port-wine stains were found on the face along the 3 branches of trigeminal nerve (B). Bilateral scleral malanocystosis (C). Port-wine stains distributed along back, arms, and legs. Mongolian spots spreading over back (D). Enlarged optic disc cup on the right eye (E). Enlarged optic disc cup on the left eye (F). Increased choroidal thickness in the right eye on OCT scan (G). Increased choroidal thickness in the left eye on OCT scan (H).

Mentions: Port-wine stains were found on the face along the 3 branches of the trigeminal nerve (Figure 2B) and distributed along the trunk, arms, and legs (Figure 2A, D). Greyish-blue patches (Mongolian spots) spreading over the frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back (Figure 2A, D).


Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma.

Yang Y, Guo X, Xu J, Ye Y, Liu X, Yu M - Medicine (Baltimore) (2015)

Case 2. Port-wine stains distributed along chest, arms, and legs. Greyish blue patches (Mongolian spots) spreading over abdomen (A). Port-wine stains were found on the face along the 3 branches of trigeminal nerve (B). Bilateral scleral malanocystosis (C). Port-wine stains distributed along back, arms, and legs. Mongolian spots spreading over back (D). Enlarged optic disc cup on the right eye (E). Enlarged optic disc cup on the left eye (F). Increased choroidal thickness in the right eye on OCT scan (G). Increased choroidal thickness in the left eye on OCT scan (H).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4504628&req=5

Figure 2: Case 2. Port-wine stains distributed along chest, arms, and legs. Greyish blue patches (Mongolian spots) spreading over abdomen (A). Port-wine stains were found on the face along the 3 branches of trigeminal nerve (B). Bilateral scleral malanocystosis (C). Port-wine stains distributed along back, arms, and legs. Mongolian spots spreading over back (D). Enlarged optic disc cup on the right eye (E). Enlarged optic disc cup on the left eye (F). Increased choroidal thickness in the right eye on OCT scan (G). Increased choroidal thickness in the left eye on OCT scan (H).
Mentions: Port-wine stains were found on the face along the 3 branches of the trigeminal nerve (Figure 2B) and distributed along the trunk, arms, and legs (Figure 2A, D). Greyish-blue patches (Mongolian spots) spreading over the frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back (Figure 2A, D).

Bottom Line: Bilateral triangular alopecia was found on the temporal scalp.Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs.Infantile glaucoma was found in both eyes.

View Article: PubMed Central - PubMed

Affiliation: From the State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

ABSTRACT
Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis.We describe 3 cases of PPV combined with bilateral Sturge-Weber syndrome (SWS), Ota nevus, and congenital glaucoma.Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh. Bilateral triangular alopecia was found on the temporal scalp. The diagnosis of Ota nevus was made by the bilateral scleral malanocystosis. Increased intraocular pressure, enlarged cornea, and pathologic optic disc cupping supported the diagnoses of infantile bilateral glaucoma. Case 2 was a 4-year-old boy. Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography showed choroidal hemagioma. OCT scan showed increased choroidal thickness. The bilateral triangular alopecia on the child's temporal scalp was similar to that of Case 1. Cases 1 and 2 presented with port-wine stain patches that were consistent with the characteristic manifestation of PPV type IIb. However, the CMTC of Case 3 met the diagnostic criteria for PPV type Vb.Case 1 was treated with trabeculotomies in both eyes. For Cases 2 and 3, surgical interventions were not considered due to the high risks of antiglaucomatous operation complications. We prescribed them antiglaucoma indications.The simultaneously coexistence of PPV with SWS, Ota nevus, and congenital glaucoma is rare. In the clinic, additional detailed examinations and tests of PPV patients to exclude other ocular abnormalities or extraocular involvements are necessary.

Show MeSH
Related in: MedlinePlus