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 Table of Contents  
Year : 2020  |  Volume : 32  |  Issue : 2  |  Page : 182-185

Phakomatosis pigmento vascularis with bulbar melanosis and oral changes in an Indian male patient - A rare case report

Department of Oral Medicine and Radiology, Teerthanker Mahaveer Dental College and Research Centre, Moradabad, Uttar Pradesh, India

Date of Submission09-Jan-2020
Date of Decision20-Mar-2020
Date of Acceptance18-Apr-2020
Date of Web Publication27-Jun-2020

Correspondence Address:
Dr. Anudeep Raina
Department of Oral Medicine and Radiology, Teerthanker Mahaveer Dental College and Research Centre, Moradabad, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jiaomr.jiaomr_2_20

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Phakomatosis Pigmento Vascularis (PPV) refers to a developmental abnormality characterized by concurrence of pigmented and capillary malformation with or without systemic manifestations. Abnormal development of melanocytic nevus cells and vasomotor neural cells arising from the neural crest has been attributed in the pathogenesis of PPV. It is classified into 5 major subtypes. Although there is no sex predilection, a preponderance of these cases has been noted in Japan. Through this rare case report, we describe the oral changes of PPV type II b in a 28 year old Indian male patient.

Keywords: Melanosis, nevi, nevus of Ota, phakomatosis, sturge-weber syndrome

How to cite this article:
Raina A, Ravindra S V, Sunil M K, Jina G. Phakomatosis pigmento vascularis with bulbar melanosis and oral changes in an Indian male patient - A rare case report. J Indian Acad Oral Med Radiol 2020;32:182-5

How to cite this URL:
Raina A, Ravindra S V, Sunil M K, Jina G. Phakomatosis pigmento vascularis with bulbar melanosis and oral changes in an Indian male patient - A rare case report. J Indian Acad Oral Med Radiol [serial online] 2020 [cited 2020 Sep 28];32:182-5. Available from: http://www.jiaomr.in/text.asp?2020/32/2/182/288129

   Introduction Top

Ota et al. in 1947 first described a rare sporadic genetic syndrome Phakomatosis pigmento vascularis (PPV).[1],[2],[3] This term is applied to a clinical combination of extensive vascular and pigmented nevus in the absence or presence of extra cutaneous manifestation.[1],[2] Although there is no gender predilection, majority of cases have been reported in the Japanese.[2],[3] Five types of PPV have been described in literature. Here by, we present a case of PPV (type 2 subtype b) in a 28 year old male patient.

   Case Report Top

A 28 year old male patient reported to the department of Oral Medicine and Radiology with the chief complaint of enlarged gingiva of several years duration. He was also presented with asymptomatic reddish grey macular patches on the right and left side of face, left lateral aspect of neck, back, upper anterior or front side of the chest (above and below the clavicle) as well as upper part of trunk that was present since birth. There was no history of seizures, subnormal intelligence or any other chronic disease. There was also no history of parental consanguinity or similar cases in the family. He was not on any medication and had normal mental stability. He was moderately built and nourished for his age. The lesions were congenital and had eventually increased in size over time. However since past few years the lesions have been static in the present size. There was no particular association of changes in size of the lesion wrt puberty.

Extra oral examination showed discrete bilateral reddish grey patches on cheek, ala of nose, temporal region and forehead interspersed with reddish macular lesions all over the areas. There was no facial asymmetry. Port wine stains were noted on bridge of nose, beneath the nose adjacent to the philtrum on the right side of the face, chin, entire left lateral aspect of the neck and upper part of anterior chest [Figure 1] and [Figure 2]. These lesions on the chest also showed aberrant macular grayish black area of pigmentation. An ocular examination showed bilateral grayish blue spots on sclera and conjunctiva suggestive of Nevus of Ota along with dilated capillaries [Figure 3]. Reduction in visual acuity was not found.
Figure 1: Extraoral picture of the patient showing melanotic patches

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Figure 2: Picture showing erythematous and melanotic macular lesions on the chest

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Figure 3: Picture showing bulbar melanosis

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Intraoral examination revealed erythematous port-wine stains on lower labial mucosa and palate with red enlarged gingivae covering the labial surface of anterior teeth that is 11, 12, 13, 21, 22, 23, 31, 32, 33, 41, 42, and 43 with bleeding on slightest provocation [Figure 4] and [Figure 5]. Consistency of the enlarged gingivae was soft to firm in few areas. Although gingival enlargement may be a result of prolonged mouth breathing habit or presence of local irritants, these factors were ruled out after a thorough clinical history and clinical examination. Moreover, the major part of the enlarged gingivae were soft and not likely resembling the fibrous enlargement as seen in mouth breathing habits. History also did reveal any symptoms relating to hormonal imbalances.
Figure 4: Intraoral picture showing enlarged erythematous gingivae

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Figure 5: Melanotic patch on palate

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On the basis of the concurrent occurrence of a vascular malformation and dermal melanocytic nevus, a provisional diagnosis of PPV was considered. Diascopy was performed as a chair side investigation. The lesion transiently disappeared and then reappeared after removal of the glass slide. Patient underwent complete hemogram which was within normal limits except for am elevated erythrocyte sedimentation rate. Panoramic radiograph revealed generalized moderate alveolar bone loss while a posterior anterior skull view showed no evidence of calcifications. Opthalmologic examination did not reveal glaucoma or any other ocular anomalies. A dermatologist consultation was also sought for this case.

The patient was referred for an incisional biopsy from areas of gingival hyperplasia. Histopathological examination (4×) revealed numerous endothelial lined blood vessels within the specimen [Figure 6]. The features include a hyperplastic parakeratinized stratified squamous epithelium overlying the connective tissue stroma. The connective tissue shows collagen fiber bundles with fibroblasts, inflammatory cell infiltrates predominantly lymphocytes and numerous blood capillaries. The patient underwent flap surgery and excision of hyperplastic tissue after meticulous oral prophylaxis. Hemostasis was well secured with styptics following the incisional biopsy.
Figure 6: Histopathological picture of 4 × zoom from gingival biopsy

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   Discussion Top

Phakomatosis refers to a developmental abnormality characterized by concurrence of pigmented and capillary malformation with or without systemic manifestation.[1],[2],[3] Men and women are equally affected.[3] The concurrent occurrence of vascular nevi and pigmented nevi was first described by Ota in 1947 as PPV.

PPV is classified in to 5 major subtypes as follows:

  1. Capillary malformation occurring with epidermal nevi
  2. Capillary malformation, dermal melanosis with or without anemic nevus which is defined as a congenital disorder characterized by macules of varying sizes and shape that are paler than the surrounding skin.
  3. Capillary malformation associated with nevus spilus, in the presence and or absence of anemic Nevus.
  4. Capillary malformation, dermal melanosis and nevus spilus in presence or absence of anemic Nevus.
  5. Cutis marmorata telengiectasia congentia associated with dermal melanosis.[2]

Each type is further sub classified as subtype: (a) representing only cutaneous involvement and sub type (b) manifesting with both cutaneous and systemic involvement, most of which are ocular, skeletal, neurological and vascular.[3],[4]

Sturge Weber-syndrome, Nevus Of Ota and Klippel Trenaunay syndrome may be associated with phakomatosis.[3] Our case had portwine stains in combination with nevus of Ota with bulbar melanosis. Hence it may be classified as PPV type 2 subtype (b). Abnormal development of melanocytic nevus cells and vasomotor neural cells arising from the neural crest has been attributed in the pathogenesis PPV.[4] Didymosis which is distinguished by two adjacent areas of cutaneous lesions formed by mutant tissues is the most accepted genetic model to explain the occurrence of PPV.[4]

Sturge Weber-syndrome is a rare non hereditary developmental condition, first described by Schirmer in 1860 with a more discrete description given by Sturge in 1879. It is characterized by angiomatosis of face (nevus flammeus or portwine stains) along the trigeminal nerve distribution. Portwine stain is congentital malformation of dermis that involves venules, capillaries and sometimes perivenular nerve. It is mostly unilateral but may occur bilaterally or may extend or be absent over the neck. It is sometimes associated with ocular involvement, mental retardation and seizures due to involvement of vasculature of eye and central nervous system. Oral changes occur in this syndrome and involve massive growth of gingivae and asymmetric jaw growth.[5] Although our case presented with similar findings, dermal melanosis was also noted thereby distinguishing it from Sturge Weber Syndrome.

Klippel and Trenaunay first recognized Klippel Trenaunay Syndrome as a distinct entity characterized by three pathognomonic features which include localized vascular nevus, congenital or early infantile varicosities on some body part and hypertrophy of tissues on that body parts. As this traid was not seen in our case, this condition was excluded.[6]

The Nevus of Ota is a dermal nevus characterized by bluish pigmentation in the distribution of first and second division of trigeminal nerve. The Nevus of Ota consists of hyperpigmentation of facial skin and mucous membrane. These dermal lesions appear as bluish confluent, non hairy, flat, pigmented macules. As our case presented with Nevus of Ota along with capillary malformations, a diagnosis of PPV was considered.[7],[8],[9],[10],[11]

Owing to a benign course that PPV follows, especially in cases without systemic involvement, no treatment is required. However, due to esthetic implications, pulsed and Q-switched laser treatments and multi discrepancy approach have been employed to enhance the quality of life of these patients.[4]

   Conclusion Top

The concurrent occurrence of vascular nevi and dermal melanosis is an uncommon phenomenon. In addition, the presence of extracutaneous manifestations such as bulbar melanosis is extremely rare. Such patients may present with oral findings as described above. As oral physicians, we must be aware of the varied manifestations of PPV and advice evaluation for associated ophthalmologic and neurological anomalies. A close observation should be emphasized as other systemic changes may become evident with the passage of time.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Byron L, Surjana D, Yoong C, Zappala T. Red- white and blue baby: A case of phacomatosis pigmentovasculari type V. Aust Dermatol Online J 2015;21:15- 9.  Back to cited text no. 1
Johanna D, Villarreal V. Phacomatosis pigmentovascularis of cesioflammea type. An Bras Dermatol 2016;91: S54-6.  Back to cited text no. 2
Sen S, Bala S, Halder C, Anar R, Gangopadhyay A. Phakomatosis pigmentovascularis presenting with sturge-weber syndrome and klippel-trenaunay syndrome. India J Dermatol 2015;60:77- 9.  Back to cited text no. 3
Segatto MM, Schmitt EU, Hagemann LN, Silva RC, Cattani CA. Phacomatosis pigmentovascularis type IIa--case report. An Bras Dermatol. 2013;88 (6 Suppl 1):85-8.  Back to cited text no. 4
Ahmed K, Yaseen A, Hassan I, Shah PA. Sturge-Weber syndrome with bilateral nevus flammeus. Indian J Paediatr Dermatol 2013;14:79-82.  Back to cited text no. 5
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Chhajed M, Pandit B, Dhawan N, Jain A. Klippel-Trenaunay and Sturge-Weber overlap syndrome with phakomatosis pigmentovascularis. J Pediatr Neurosci 2010;5:138-40.  Back to cited text no. 6
[PUBMED]  [Full text]  
Hall DB, Cadle RG, Morrill-Cornelius SM, Bay CA. Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes. Am J Med Genet Part A 2008;14:945- 51.  Back to cited text no. 7
Pillai M R, HasiniPP, Ahuja A, Krishnadas S R. A rare case of overlapping Sturge–Weber syndrome and Klippel–Trenaunay syndrome associated with bilateral refractory childhood glaucoma. Indian J Ophthalmol 2017. Indian J Ophthalmol 2019;65:623- 5.  Back to cited text no. 8
Laureano A, Carvalho R, Amaro C, Freitas I, Cardoso J. Vascular malformation and common keratinocytic nevus of the soft type: phacomatosis pigmentovascularis revisited. Case Rep Dermatol Med 2014;2014:437085. doi: 10.1155/2014/437085.  Back to cited text no. 9
Xu S, Zhang Q, Liu T, Zhang Ye, Sun N. A female infant with phacomatosis pigmentovascularis and congenital chylous ascites. Medicine 2018;97:1-4.  Back to cited text no. 10
Trivedi NV, Vhankade RA, Patel RB. A case report of Phakomatosis pigmentovascularis. J Clin Ophthalmol Res 2017;5:91-93.  Back to cited text no. 11
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  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]


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