Síndrome de Blue Rubber Bled Nevus. Presentación de un caso / Syndrome of Blue Rubber Bled Nevus. Case presentation

RESUMEN El síndrome de Blue Rubber Bled Nevus se caracteriza por múltiples malformaciones cutáneas, asociadas con malformaciones menores en órganos internos, (comúnmente afectan los órganos del sistema digestivo y el sistema nervioso central). A nivel mundial, se afirma que hay cerca de 1 a 2 millones de individuos afectados por este síndrome, y se cree que incide en 1 de cada 6000. En recién nacidos la incidencia se ha calculado en menos de 1 caso por 100 000 persona/año. Se presentó un caso de una paciente femenina de 8 años de edad, con antecedentes de hemangiomas múltiples de color azul violáceo, distribuidos por toda la superficie corporal, de diferentes diámetros. Algunos protruyen y depresibles al tacto. Presentaba ptosis palpebral y movimientos torpes de los cuatro miembros, epilepsia y afectaciones del neurodesarrollo el cual corresponde con una edad cronológica de 11 meses. Mostraba una disminución importante de la visión. Presencia de pie valgo a predominio derecho. Apareció anemia leve por déficit de hierro, inmunoglobulina C3 y C4, la química sanguínea al límite de lo normal. La resonancia magnética nuclear mostró importantes signos de atrofia cortical, más acentuados en región temporal derecha. Son entidades de muy escasa presentación y en la provincia de Matanzas es el único caso con este diagnóstico, por lo que constituyó el motivo para la presentación del caso.

ABSTRACT The syndrome of Blue Rubber Bled Nevus is characterized by multiple skin malformations, associated to minor malformations in internal organs (it commonly affects the organs of the digestive system and the central nervous system). It is affirmed that around 1 to 2 millions of individuals are affected by this syndrome worldwide, and it is believed that it has incidence on 1 of each 6000 persons. In newborns the incidence has been calculated in less than 1 case per 100 000 persons/year. The authors presented the case of a female patient, aged 8 years, with antecedents of purplish-blue multiple hemangiomas of different diameters, distributed all over the surface if the body. Several of them are protruding and depressible to the touch. She presented eyelid ptosis and slow movements of the four limbs, epilepsy, and neurodevelopment affectations corresponding to a chronological age of 11 months. She showed an important decrease of the vision. The study showed a slight iron-deficiency anemia, immunoglobulin C3 and C4, blood chemistry at the normal limit. The magnetic resonance imaging showed important signs of cortical atrophy, stronger in the right temporal region. These are entities of scarce presentation and it is the only case with this diagnosis found in the province of Matanzas; that motivated this case presentation.

Síndrome de Blue Rubber Bled Nevus. Presentación de un caso / Syndrome of Blue Rubber Bled Nevus. Case presentation

RESUMEN El síndrome de Blue Rubber Bled Nevus se caracteriza por múltiples malformaciones cutáneas, asociadas con malformaciones menores en órganos internos, (comúnmente afectan los órganos del sistema digestivo y el sistema nervioso central). A nivel mundial, se afirma que hay cerca de 1 a 2 millones de individuos afectados por este síndrome, y se cree que incide en 1 de cada 6000. En recién nacidos la incidencia se ha calculado en menos de 1 caso por 100 000 persona/año. Se presentó un caso de una paciente femenina de 8 años de edad, con antecedentes de hemangiomas múltiples de color azul violáceo, distribuidos por toda la superficie corporal, de diferentes diámetros. Algunos protruyen y depresibles al tacto. Presentaba ptosis palpebral y movimientos torpes de los cuatro miembros, epilepsia y afectaciones del neurodesarrollo el cual corresponde con una edad cronológica de 11 meses. Mostraba una disminución importante de la visión. Presencia de pie valgo a predominio derecho. Apareció anemia leve por déficit de hierro, inmunoglobulina C3 y C4, la química sanguínea al límite de lo normal. La resonancia magnética nuclear mostró importantes signos de atrofia cortical, más acentuados en región temporal derecha. Son entidades de muy escasa presentación y en la provincia de Matanzas es el único caso con este diagnóstico, por lo que constituyó el motivo para la presentación del caso (AU).

ABSTRACT The syndrome of Blue Rubber Bled Nevus is characterized by multiple skin malformations, associated to minor malformations in internal organs (it commonly affects the organs of the digestive system and the central nervous system). It is affirmed that around 1 to 2 millions of individuals are affected by this syndrome worldwide, and it is believed that it has incidence on 1 of each 6000 persons. In newborns the incidence has been calculated in less than 1 case per 100 000 persons/year. The authors presented the case of a female patient, aged 8 years, with antecedents of purplish-blue multiple hemangiomas of different diameters, distributed all over the surface if the body. Several of them are protruding and depressible to the touch. She presented eyelid ptosis and slow movements of the four limbs, epilepsy, and neurodevelopment affectations corresponding to a chronological age of 11 months. She showed an important decrease of the vision. The study showed a slight iron-deficiency anemia, immunoglobulin C3 and C4, blood chemistry at the normal limit. The magnetic resonance imaging showed important signs of cortical atrophy, stronger in the right temporal region. These are entities of scarce presentation and it is the only case with this diagnosis found in the province of Matanzas; that motivated this case presentation (AU).

Hemangioma hemosiderótico en diana / Targetoid hemosiderotic hemangioma

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Meningitis and pneumococcal pyomyositis in a child with intramuscular hemangiomas: an autopsy case report.

Pyomyositis is the bacterial infection of skeletal muscle, usually accompanied by abscesses. The main etiologic agent is Staphylococcus aureus. There are rare cases attributed to Streptococcus pneumoniae. This paper presents an autopsy of a four year old child with multiple congenital intramuscular hemangiomas that developed pneumococcal pyomyositis associated with meningitis. The authors propose the hypothesis that patients with hemangiomas, mainly the intramuscular type, may also represent a risk group for pyomyositis. The possibility of respiratory/meningeal co-infection, might also be considered even if the clinical picture is restricted to the muscular system.

Microbiology of infected hemangiomas in children.

Bacterial infections are a common complication of hemangiomas in children. The objective of this study was to establish the aerobic and anaerobic microbiology of infected hemangiomas. A retrospective 8-year review of clinical and microbiology laboratory records from patients with secondarily infected hemangiomas was carried out. Specimens from infected sites were processed for the presence of aerobic and anaerobic bacteria. Bacterial growth was present in 32 of 38 specimens. Aerobic bacteria alone were recovered in 12 infected hemangiomas (37.5%), anaerobic bacteria alone in 8 (33%), and mixed aerobic and anaerobic flora in 12 (37.5%). A total of 80 isolates (47 aerobes and 33 anaerobes) were recovered, giving an average of 2.5 isolates per specimen (1.5 aerobes and 1.0 anaerobes). The highest number of isolates were recovered in infections of the perineum (3.7 per site) and the legs (2.8 per site). The predominant aerobic isolates were Staphylococcus aureus, group A beta-hemolytic streptococci, and Enterobacteriaceae. The predominant anaerobes were Peptostreptococcus sp., gram-negative bacilli, and Fusobacterium sp. Organisms that belong to the mucous membranes close to the lesions predominated in infections next to those membranes. The polymicrobial etiology of secondarily infected hemangiomas and the association of bacterial flora with the anatomic site of the lesions is thereby demonstrated.

[Infection and angiomatous cutaneous lesions]. / Infection et lésions cutanées angiomateuses.

The occurrence of angiomatous cutaneous lesions in the presence of an infective process is not a frequent phenomenon. Most infectious diseases are associated with an exanthematous reaction. The combination of an infective illness and angiomatous lesions is seen essentially in the bartonelloses and in Kaposi's disease. Bartonelloses: group of infections due to alpha-proteobacteria such as Bartonella. Bartonella bacilliformis (BB), is the causal agent of Carrion's disease, the chronic cutaneous form of which (verruga peruana), in which the vector is an arthropod of the Lutzomyia species found in South America, presents superficial and deep angiomatous cutaneous nodules. Spontaneous regression occurs in a few months or years. Bartonella henselae (BH) and Bartonella quintana (BQ), are the causal agents of bacillary angiomatosis (BA), described in 1983, in which angiomatous papules or nodules with an appearance like botryomycomas, are associated with visceral lesions. The characteristic histological features (with the demonstration or the bacilli by Warthin-Starry stain) together with culture of the bacterium in various tissues (including the blood) are diagnostic. BA occurs most commonly, but not exclusively, in patients with HIV infection. Furthermore, BH is responsible for cat scratch disease while BQ causes trench fever. The reservoir of BH is the cat. The bartonella produce angiogenic factors responsible for the neovascularisation seen in angiomatous lesions. The differential diagnosis is between botryomycomas and Kaposi's disease. Numerous antibiotics are effective against botryomycomas, particularly chloramphenicol and penicillin for BB and macrolides, cyclins and fluoroquinolones for BH and BQ. Kaposi's disease (KD): whether classical, endemic or epidemic (due to HIV infection) is characterised by cutaneous and visceral angiomatous lesions: these are associated with multifocal tumorous proliferations (of endothelial and fusiform cells) affected by angiogenic growth factors (PDGF, FGF, IL6, alphaTGF, HIVtat, androgens) and strongly linked to the lymphocytic and endothelial tropism of a gamma herpes virus (HHV8, Chang and Moore 1994). HHV8 infection, probably sexually transmitted, is also the cause of lymphomas occurring in cavities and of Castleman's disease. The course of KD is very variable: from the indolent form in elderly HIV-ve patients, to the explosive forms in the immunodepressed (particularly in HIV+ve patients.

[Viral implication in immature angiomas. Etiopathogenic hypothesis and immunohistopathologic study of eleven cases]. / L'implication virale dans les angiomes immatures. Hypothèse étiopathogénique et étude immunohistopathologique sur onze cas.

After assessing research into etiopathogeny of immature angiomas, the authors study immunohistopathological pieces taken from (eleven) patients. Results prove the presence of papilloma virus in the observed tissues, and a particular management of the immunity response. These results evoke a possible viral etiopathogeny at the origin of these lesions.

Epidermal growth factor receptor expression in squamous papillomas of the oral mucosa.

Aim of the present study was to investigate the immunocytochemical expression of Epidermal Growth Factor receptor (EGFr) in normal oral mucosa and in 12 oral papillomas in which the presence of Human Papilloma Viruses (HPV) had been ascertained through in situ hybridization. The study reveals that in normal oral mucosa EGFr is usually expressed in basal cell layers whereas in oral papillomas EGFr is detectable throughout the whole thickness of the lesions. Furthermore, when HPV type 6 is present (10 cases) in the lesion, the pattern of expression of EGFr is almost exclusively membranous whereas in two HPV type 16-induced papillomas the reaction product with monoclonal anti-EGFr Antibodies appears confined to the intracytoplasmic paranuclear area. The present investigation, therefore, seems to show a peculiar correlation between HPV infection and EGFr immunoreactivity in papillomas of the oral mucosa. The pattern of immunoreactivity appears to be related to the specific type of HPV detectable in the lesion and it may possibly depend on the interactions between host and viral genomes. Those interactions might be different for HPV 6 and HPV 16 and may consequently lead to divergent expression of EGFr.

Association of p62c-yes with polyomavirus middle T-antigen mutants correlates with transforming ability.

A number of mutants of polyomavirus middle T antigen (MTag) were constructed into replication-competent avian retroviruses. To assess the ability of these MTag variants to transform and to associate with the avian p60c-src and p62c-yes proto-oncogene products, we used these viruses to infect chicken embryo fibroblasts. We found that the ability of individual mutant MTags to associate with p62c-yes correlated well with the ability of these mutants to transform, as has been previously shown for the association of MTag with p60c-src. All transformation-competent mutant MTags retained the ability to complex with p62c-yes. Two transformation-defective mutants, RX67 and RX68, which could weakly associate with p60c-src, were unable to associate with p62c-yes.dl1015, a transformation-defective mutant which could associate with p60c-src and with a phosphatidylinositol kinase activity, was also able to associate with p62c-yes. Therefore, some as yet unmeasured biochemical property is defective in this mutant.

Cutaneous vascular lesions and disseminated cat-scratch disease in patients with the acquired immunodeficiency syndrome (AIDS) and AIDS-related complex.

Cutaneous lesions develop frequently in patients infected with human immunodeficiency virus (HIV). We describe the clinical features of four patients with the acquired immunodeficiency syndrome (AIDS) or AIDS-related complex who developed angiomatous nodules involving skin and bone, 2 of whom were scratched by a cat. Some of these lesions were clinically indistinguishable from Kaposi sarcoma. When examined with Warthin-Starry staining and electron microscopy, these nodules were noted to contain numerous clumps of a bacterium. Immunoperoxidase staining with an antiserum raised against the cat-scratch disease bacillus stained these organisms in all patients. Cat-scratch disease is usually a self-limited infection, but complicated or prolonged infections have been described in both normal and immunocompromised hosts. In our patients infected with HIV, manifestations of systemic cat-scratch disease included angiomatous nodules, severe systemic symptoms of fever, chills, night sweats and weight loss, elevated erythrocyte sedimentation rate, and decreased hematocrit. Cutaneous lesions involved the face, trunk, and extremities and numbered 2 to greater than 60; osseous lesions involved the fibula, radius, femur, and tibia, and were present in two of four patients. Treatment with x-ray therapy, intralesional vinblastine, penicillin, dicloxacillin, cephradine, and nafcillin had no effect on any lesions; however, treatment with erythromycin, doxycycline, or antimycobacterial antibiotics resulted in complete and rapid resolution of the cutaneous and osseous lesions, and the accompanying signs and symptoms of systemic infection. In patients with AIDS or AIDS-related complex, angiomatous nodules should be carefully evaluated for the presence of this organism, which can be treated and cured with antibiotic agents.

Epithelioid haemangioma-like vascular proliferation in AIDS: manifestation of cat scratch disease bacillus infection?

Papular and nodular skin lesions that clinically resembled Kaposi sarcoma, but histologically showed a distinct epithelioid haemangioma-like appearance, were noted in seven patients with the acquired immunodeficiency syndrome. Clusters of bacteria that had the structure of gram-negative rods were identified within each of the vascular proliferations by electron microscopy. The bacteria did not stain with the Brown-Brenn, acid-fast, or other histochemical stains for infectious organisms, but did stain with Warthin-Starry--ie, the staining profile was that described for the cat scratch disease (CSD) bacillus. Immunoperoxidase staining, using antisera raised in rabbits against cultured CSD bacillus, showed a positive reaction with the bacterium in all five cases tested. The two surviving patients have both given histories of having been scratched by a cat. In several patients, the vascular lesions regressed after therapy with antibiotics appropriate for CSD bacillus infection.

Group A beta-hemolytic streptococcal septicemia complicating infected hemangioma in children.

Septicemia complicating infected hemangiomas was diagnosed in two children aged 2 months and 2 years. The younger also developed bacterial meningitis. Group A beta-hemolytic Streptococcus non-M protein typable was isolated in both patients. Neither had leukocytosis and in only one was the erythrocyte sedimentation rate elevated. The children recovered after intravenous antibiotic therapy. Use of systemic antibiotics should be considered in infected hemangiomas in childhood even in the absence of elevated acute-phase reactants.

Vascular tumors induced by polyoma virus in pregnant rats.

Female R rats mated with an R male and inoculated in utero with polyoma virus after "fetectomy" developed tumors. These tumors originated in the uterus and were of fetal origin (visceral yolk sac). Histologically, they were hemangiomas or hemangiosarcomas. The latter were transplantable and grew in tissue culture. Infectious polyoma virus could not be isolated from the tumor cells kept as transplantable lines or cultured in vitro. However, the tumor cells were positive for the polyoma-specific surface antigen, polyoma tumor-specific transplantation antigen(s), and polyoma nuclear T antigen.