The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis

Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis.

Phacomatosis pigmentovascularis type IIa - case report / Facomatose pigmentovascular tipo IIa - relato de caso

Phacomatosis Pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. A case of a 2-year-old patient is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot, without systemic disease, manifestations that allow us to classify this case as type IIa Phacomatosis Pigmentovascularis, according to Hasegawa's classification.

A Facomatose Pigmentovascular, síndrome rara, é caracterizada pela presença concomitante de malformação capilar e nevos pigmentares. Relata-se o caso de um paciente de dois anos de idade com malformação capilar extensa e mancha mongólica aberrante sem comprometimento sistêmico, manifestações que o incluem no tipo IIa na classificação da Facomatose Pigmentovascular, segundo Hasegawa.

Nevus of Ota: clinical-ophthalmological findings / Nevo de Ota: achados clínicos e oftalmológicos

OBJECTIVE: To analyze the clinical and ophthalmological findings of patients with nevus of Ota. METHODS: Retrospective analysis of patients' charts with nevus of Ota. We registered the demographic data, location of the nevus and date of appearance, family history of similar spots, biomicroscopic, gonioscopic, tonometric, ophthalmoscopic and perimetric findings. RESULTS: We included 14 patients, six (43.0 percent) men and eight (57.0 percent) women, with a mean age of 21.7±17.5 years. Ten (71 percent) were mulatto, three (21.4 percent) white and one (7.1 percent) black. Twelve (85.7 percent) patients presented the spots at birth and two in puberty. Nine patients presented conjunctival and episcleral pigmentation in the right eye and five in the left eye. According to Tanino's classification, five (35.7 percent) nevi were class 1, eight (57.1 percent) class 2 and one (7.1 percent) class 3. Heterochromia iridis was found in eight (57.1 percent) patients. Anisocoria was present in three (21.4 percent) patients. Five (35.7 percent) patients presented a suspected glaucomatous cup disc ratio (≥0.7); six (42.9 percent) presented a cup disc ratio ≤ 0.5 and three (21.4 percent), no cup disc. We found two curious and remarkable findings: a nevus of Ota on the palate of one patient and other on the optic disc associated with a pigmentary mottling of the fundus in another patient. The pigmentary mottling of the fundus was also seen in four more eyes. CONCLUSIONS: The nevus of Ota was frequently present at birth, in mulattos, and classified as Tanino's class 1 and 2. Heterochromia iridis was a common finding. Anisocoria was present in a small percentage of eyes. No patient developed glaucoma or malignancy.

OBJETIVO: Analisar os achados clínico-oftalmológicos de portadores de nevo de Ota. MÉTODOS: Análise retrospectiva dos prontuários de pacientes com nevo de Ota. Foram registrados dados demográficos, localização do nevo e época do seu aparecimento, história familiar de manchas similares, olho acometido, achados ectoscópicos (classificação de Tanino), biomicroscópicos, fundoscópicos e campimétricos. RESULTADOS: Foram incluídos 14 pacientes, seis (47,0 por cento) homens e oito (53,0 por cento) mulheres com média de idade de 21,7±17,5 anos. Dez (71 por cento) pacientes eram feodérmicos, três (21,4 por cento) leucodérmicos e um (7,1 por cento) melanodérmico. Doze (85,7 por cento) pacientes apresentaram manchas ao nascimento e dois relataram seu surgimento após o nascimento. Três pacientes relataram manchas compatíveis com nevo de Ota em consanguíneos. A melanose conjuntivo-episcleral foi reconhecida no olho direito em cinco pacientes e em nove no olho esquerdo. Pela classificação de Tanino, cinco (35,7 por cento) dos nevos eram da classe 1, oito (57,1 por cento) da classe 2 e um (7,1 por cento) da classe 3. Presença de heterocromia da íris em oito (57,2 por cento) pacientes. Anisocoria ocorreu em três pacientes. Disco óptico suspeito de glaucoma (relação escavação/disco ≥ 0,7) foi observado em cinco pacientes (35.7 por cento); seis apresentaram escavação fisiológica e três não apresentavam escavação. Dois achados curiosos e raros: um nevo de Ota no palato de um paciente e outro no disco óptico de outro paciente associado com pigmentação difusa no polo posterior retiniano. Essa pigmentação foi também vista em mais quatro olhos. CONCLUSÃO: O nevo de Ota foi mais comumente presente ao nascimento, em feodérmicos e nas classes 1 e 2 de Tanino. Heterocromia iriana achado comum. Anisocoria foi diagnosticada num percentual pequeno de pacientes. Nenhum paciente desenvolveu glaucoma nem tumor maligno.

Comparison of Characteristics of Acquired Bilateral Nevus of Ota-like Macules and Nevus of Ota According to Therapeutic Outcome

Both acquired bilateral nevus of Ota-like macules (ABNOM) and nevus of Ota are characterized by the presence of dermal melanocytes. There are no differences in the method of treatment, however, postinflammatory hyperpigmentation (PIH) develops more often in ABNOM than in nevus of Ota following treatment. We investigated the differences in the development of PIH after treatment between ABNOM and nevus of Ota, and the histopathologic differences in the PIH. A total of 82 patients with ABNOM (n=47) and nevus of Ota (n=35) were treated with Q-switched alexandrite laser and followed up 2 weeks and 3 months later. Biopsies were performed on lesional skin before treatment. The distribution and the amount of melanin pigments were visualized with Fontana-Masson stain, and the distribution and the depth of melanocytes were measured by GP-100 (NK1-beteb) stain. Clinically, there was more erythema and PIH in ABNOM than in nevus of Ota. Histopathologically, intradermal melanocytes were clustered in groups and dispersed perivascularly in ABNOM, while melanocytes were scattered evenly throughout the dermis in nevus of Ota. Both groups show that when there is a statistically significant number of melanocytes in the perivascular area, erythema and PIH occur after laser therapy. In conclusion, indirect vessel injury in addition to perivascular clustering melanocytes might be considered the cause of increased PIH after treatment in ABNOM.

Oculodermal melanocytosis--Nevus of Ota (with palatal pigmentation).

Nevus of Ota is a benign dermal melanocytosis, that involves facial skin as a macular discoloration, appearing as blotchy blue to blue gray. It involves the upper portion of the face, especially over the periorbital area. It also involves ocular structures such as episclera, sclera, conjunctiva, cornea, retina, uveal tract and also nasopharynx, auricular mucosa, tymphanic membrane and dura. Glaucoma and malignant melanoma are the two known ocular complications in patients with Nevus of Ota. 12-18% of these patients exhibits palatal pigmentation. Here we are reporting two cases of Oculodermal melanocytosis, one of which exhibited palatal pigmentation.

A quantitative evaluation of pigmented skin lesions using the L*a*b* color coordinates

The evaluation of pigmentary skin lesions by clinical doctors has been based on subjective and qualitative judgements. Observations have mostly relied on visual inspection, making the effects of treatment difficult to evaluate with any precision. For this reason there is a real need for an objective method to evaluate prognosis after treatment. Recent scientific measurements such as reflectance spectrophotometry and reflectance colorimetry have provided accurate quantitative color information about skin lesions, but these techniques are costly and difficult to apply in the clinical field. The purpose of this study was to develop a simple and cost-effective way of evaluating treatment results. We have developed a software program using the L*a*b* color coordinate system to quantify the effect of treatment and have successfully demonstrated its clinical usefulness. Our method compares the relative color difference between normal skin and skin lesions before and after treatment, instead of measuring the absolute color of skin lesions. The accuracy of our quantitative color analysis was confirmed by the simulated images of hemangioma and ota nevus. Clinical efficacy was also confirmed through a blind test involving 3 clinicians who were asked to grade the treatment effects of 13 cases of hemangioma and 7 cases of ota nevus. These subjective clinical grades correlated well with the treatment results obtained using the proposed color analysis system (Correlation coefficient = 0.84).