Blue rubber bleb nevus syndrome: a case report and literature review.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs. The lesions often involve the cutaneous and gastrointestinal systems. Other organs can also be involved, such as the central nervous system, liver, and muscles. The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia. The syndrome may also present with severe complications such as rupture, intestinal torsion, and intussusception, and can even cause death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of gastrointestinal lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy, such as iron supplementation and blood transfusion. For more significant hemorrhages or severe complications, surgical resection, endoscopic sclerosis, and laser photocoagulation have been proposed. Here we present a case of BRBNS in a 45-year-old woman involving 16 sites including the scalp, eyelid, orbit, lip, tongue, face, back, upper and lower limbs, buttocks, root of neck, clavicle area, superior mediastinum, glottis, esophagus, colon, and anus, with secondary severe anemia. In addition, we summarize the epidemiology, clinical manifestations, diagnosis, differential diagnosis and therapies of this disease by analyzing all previously reported cases to enhance the awareness of this syndrome.

[Lacrimal sac tumors presenting as lacrimal obstruction. Retrospective study in Mexican patients 2007-2012]. / Tumores del saco lagrimal que se presentan como obstrucción de la vía lagrimal. Estudio retrospectivo en la población mexicana durante 2007-2012.

OBJECTIVE: To determine the demographic and clinical data of primary tumors of the lacrimal sac presenting as lacrimal obstruction. METHODS: Retrospective and descriptive study was conducted between the years 2007 to 2012 on all patients undergoing surgery for low lacrimal obstruction at Dr. Luis Sanchez Bulnes Hospital, an Association for the prevention of blindness in Mexico IAP. RESULTS: Primary tumors of the lacrimal sac represented 2.5% of all lacrimal obstructions, being more common in women than in men (8:1). The large majority (89%) of the cases were non-epithelial, with lymphoid lesions being the most frequent. Benign tumors were presented at a younger age (50 years old) than malignant (70 years old). One-third (33%) of cases were unexpected findings during surgery (100% benign). Just over half (55%) were malignant tumors (1.4% of obstructions), all of them lymphoproliferative lesions. The most frequent clinical tumor was in the inner edge, either with or without epiphora. The progression time varied according to the degree of aggressiveness of the lymphoma (3 months-10 years). CONCLUSIONS: Lacrimal sac tumors are rare, but they must be taken into account in patients with an unusual clinical presentation of lacrimal obstruction.

The spectrum of grossly visible pigmented lesions in the uterine cervix: a prospective study.

Pigmented lesions of the uterine cervix (UC) have not been systematically studied in the literature. Over an 18-mo period, we prospectively investigated the histologic spectrum of all macroscopically visible pigmented lesions of the UC. The incidence of pigmented UC was 1.6% (33/2118). Histologic examination revealed 32 cases (97%) with a histologic correlate, of which 26 lesions were of melanocytic nature including 25 blue nevi (BNs) (81%) and 1 melanotic macule (3%). The nonmelanocytic lesions included 1 case of focal granulomatous vasculitis (3%), 2 biopsy site-associated reactive changes with hemosiderin-laden macrophages (6.4%), 1 case of hemorrhagic Nabothian cyst (3%), 1 hemangioma (3%), and 1 case of multinucleated giant cell reaction to dark black carbon-like material (3%). Women with UC BN (1.2% incidence) were mostly whites (13/25, 52%) with a mean age of 47.4 yr (range, 31-64 yr). The number and size of BN per UC, all located in the endocervix, varied between 1 to 3 and 0.1 to 2 cm (mean, 0.68 cm). UC BN exhibited 3 distinct morphologic patterns: (1) stromal melanocytic focus composed of fine spindle cells (9/25, 36%); (2) mixed pattern with fine spindle, plump spindle, and epithelioid cells (15/25, 60%); and (3) nevoid stage with epithelioid cells (1/25, 4%). In contrast, cervical melanotic macule was located in the squamous epithelium of the ectocervix and characterized by hyperpigmentation of the basal keratinocytes admixed with scattered slightly enlarged melanocytes. In conclusion, pigmented lesions of the UC are not as uncommon as reported and mostly benign in nature. Several cases may require deeper levels for their detection and to exclude the rare phenomenon of UC melanoma.

Malignant blue nevus: clinicopathologically similar to melanoma.

Malignant blue nevus (MBN) is a rare melanocytic lesion and controversy exists whether it is a melanoma or a unique entity. We sought to establish clinical behavior using a large national registry. All patients with MBN and melanoma from 1973 to 2008 were identified in the Surveillance Epidemiology and End Results tumor registry. We performed comparative and survival analysis among the two tumor types. A total of 228,038 patients were identified (227,986 with melanoma and 52 with MBN). The mean age was 57.7 years. Both lesions had similar age of presentation (55.8 vs 55.7 years, P = 0.527), sex (male 50 vs 55%, P = 0.44), and nodal positivity rate (9.6 vs 5.4%, P = 0.22). MBNs were more likely to be nonwhite (11.8 vs 1.6%, P < 0.0001) and present with metastatic disease (15.2 vs 4%, P = 0.0028). MBN and melanoma had a similar survival (264 vs 240 months, P = 0.78) and remained similar when stratified by race (264 vs 242 months, P = 0.99) and stage (264 vs 256 months, P = 0.83). This is the largest study to date demonstrating similar clinical behavior and survival between patients with MBN and those with melanoma. We believe MBN is a variant of melanoma and suggest using a similar treatment algorithm as that of melanoma.

Nevus azul prostático. Aportación de un nuevo caso / Blue prostatic nevus. Case report

Objetivo: Poner de manifiesto la escasa incidencia de esta patología prostática y la confusión relativa a la terminología aplicada a la presencia de pigmentos melánicos intraprostáticos. Métodos/Resultados: Paciente de 66 años con valores elevados de PSA al que tras la realización de biopsia prostática se diagnostica de nevus azul prostático. Conclusiones: Es un hallazgo diagnóstico sin repercusión clínica para el paciente. Se trata de lesiones benignas que no deben ser confundidas en ningún caso con otras similares de características agresivas (AU)

Objective: To state the scarce incidence of this prostatic pathology and the relative confusion with terminology applied to the presence of intraprostatic melanin pigments. Methods/Results: 66-year-old patient with elevated serum PSA with the diagnosis of prostatic blue nevus after biopsy. Conclusions: This diagnostic finding has not clinical or prognostic significance. They are benign lesions that must not be confused with other similar more aggressive lesions (AU)

Relative frequency of solitary melanocytic lesions of the oral mucosa.

BACKGROUND: Solitary pigmented lesions of melanocytic origin are uncommon in the oral mucosa. These lesions include the oral and labial melanotic macule, oral melanocytic nevus, oral melanoacanthoma, oral melanoma and atypical melanocytic proliferation. The purpose of the study was twofold: to report a large series of solitary melanocytic lesions from one source, and to determine the relative frequency of these lesions. METHODS: The study was based on a systematic search of the files of the Pacific Oral and Maxillofacial Pathology Laboratory, University of the Pacific, San Francisco for solitary pigmented melanocytic lesions (benign and malignant) accessed during the years 1984-2002. RESULTS: Of the 89 430 biopsies accessed during the 19-year period, 773 (0.83%) cases of solitary pigmented melanocytic lesions in the oral mucosa were identified. Oral and labial melanotic macules were the most common melanocytic lesions comprising 86.1% of the entire group and 0.7% of the total number of accessed biopsies. The vermilion border and gingiva were the most common sites (31.1% and 31.0% respectively). Oral melanocytic nevi comprised 11.8% of the entire melanocytic group and 0.1% of the total number of biopsies. The most common site was the palate (44%). Intramucosal nevi were the most common (64%), followed by compound nevi (16.5%) and common blue nevi (16.5%). Junctional nevi were uncommon (3.0%). Oral melanoacanthoma comprised only 0.9% of the entire melanocytic group and 0.008% of the total number of biopsies. Oral melanoma and atypical melanocytic proliferation were the least common lesions each comprising 0.6% of the entire melanocytic group and 0.006% of the total number of biopsies. The most common site for oral melanoma was the palate (60%). CONCLUSION: The palate was the most common location for both melanocytic nevi and oral melanoma. Thus, all melanocytic lesions in the palate should be viewed with caution and biopsy is recommended to rule out melanoma. Further studies are required to elucidate the entity of oral atypical melanocytic proliferation.

Dysplastic changes in different types of melanocytic nevi. A unifying concept.

We observed histopathologic changes previously described in dysplastic melanocytic nevi in association with a dermal component characteristic of other types of melanocytic nevi or overlapping with features of other varieties of nevi. In order to determine the frequency of these changes, we studied 2,164 cases of compound melanocytic nevi that fulfilled the histopathologic criteria for the diagnosis of compound dysplastic nevus, including architectural pattern, cytologic features, and mesenchymal changes. Of the 2,164 compound dysplastic melanocytic nevi, 1,895 (87.6%) had the histopathologic characteristics previously described for dysplastic nevus, 179 (8.3%) showed a dermal component with a congenital pattern, 67 (3.1%) demonstrated epidermal and dermal characteristics of Spitz's nevus, 8 (0.3%) had features of a combined blue nevus, 13 (0.6%) had a halo phenomenon and 2 (0.1%) showed dermal neuronevus. By considering these nevi as variants of dysplastic nevi, one may apply a unified conceptual basis for their nomenclature. In order to completely describe the appearance of the nevus, we named them by adding the term "dysplastic", to their main histopathologic subtype. Accordingly, six different varieties of dysplastic nevi were identified: 1) dysplastic nevus (original); 2) dysplastic nevus with a congenital pattern; 3) dysplastic Spitz's nevus; 4) dysplastic combined blue nevus; 5) dysplastic halo nevus; and 6) dysplastic neuronevus. In summary, we conclude that the histopathologic criteria previously reported for the diagnosis of dysplastic nevi may be found in association with a dermal component characteristic of other types of melanocytic nevi or may have overlapping features with other variants of nevi.