RESUMO
BACKGROUND: WHIM syndrome corresponds to an inborn error of innate and intrinsic immunity, characterized by: warts (Warts), Hypogammaglobulinemia, Infections and Myelocathexis, for its acronym in English. CASE REPORT: 4-year-old male, with severe neutropenia and B-cell lymphopenia from birth, without severe infections or warts; the panel genetic sequencing study of primary immunodeficiencies with the CXCR4 c.1000C>T (p.Arg334*) variant, which is associated with WHIM syndrome. CONCLUSIONS: The diagnosis of severe neutropenia from birth should include the search for inborn errors of immunity, through genetic sequencing studies, especially in asymptomatic or oligosymptomatic patients.
ANTECEDENTES: El síndrome WHIM corresponde a un error innato de la inmunidad innata e intrínseca, caracterizada por verrugas (Warts), hipogammaglobulinemia, infecciones y mielocatexis, por sus siglas en inglés. REPORTE DE CASO: Paciente masculino de 4 años, con neutropenia severa y linfopenia de células B desde el nacimiento, sin infecciones severas ni verrugas. El estudio de secuenciación genética informó la variante CXCR4 c.1000C>T (p.Arg334*), relacionada con el síndrome de WHIM. CONCLUSIÓN: El diagnóstico de neutropenia severa desde el nacimiento debe incluir la búsqueda de errores innatos de la inmunidad, mediante estudios de secuenciación genética, especialmente en pacientes asintomáticos u oligosintomáticos.
Assuntos
Agamaglobulinemia , Síndromes de Imunodeficiência , Neutropenia , Doenças da Imunodeficiência Primária , Verrugas , Masculino , Humanos , Pré-Escolar , Doenças da Imunodeficiência Primária/diagnóstico , Verrugas/diagnóstico , Verrugas/etiologia , Agamaglobulinemia/diagnóstico , Neutropenia/complicações , Neutropenia/diagnóstico , Neutropenia/genética , Síndromes de Imunodeficiência/diagnósticoAssuntos
Humanos , Masculino , Criança , Neoplasias Cutâneas/congênito , Perna (Membro) , Angioceratoma/congênito , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Verrugas/congênito , Verrugas/diagnóstico , Diagnóstico Diferencial , Angioceratoma/diagnóstico , Angioceratoma/patologiaRESUMO
We report a case of amelanotic acral melanoma in a 42-year-old Chinese woman. Ten months previously the patient found a 2-cm asymmetric erythematous macular plaque on her left sole. The lesion was diagnosed as verruca plantaris by every physician the patient consulted. One month ago, an enlarged lymph node was detected in the left groin, which biopsy reported as metastatic melanoma. Dermoscopy suggested verruca plantaris, and positron emission tomography (PET) revealed increased glucose metabolism in the macular plaque. Finally, biopsy of the plaque revealed amelanotic melanoma. Misdiagnosis and diagnostic delay are usually associated with poorer patient outcomes. Awareness of atypical presentations of acral melanoma is thus important for decreasing misdiagnosis rates and improving patient outcomes.
Assuntos
Dermatoses do Pé/patologia , Melanoma Amelanótico/patologia , Neoplasias Cutâneas/patologia , Verrugas/patologia , Adulto , Biópsia , Diagnóstico Tardio , Dermoscopia , Diagnóstico Diferencial , Erros de Diagnóstico , Feminino , Dermatoses do Pé/diagnóstico , Humanos , Metástase Linfática , Melanoma Amelanótico/diagnóstico , Neoplasias Cutâneas/diagnóstico , Verrugas/diagnósticoRESUMO
Abstract: We report a case of amelanotic acral melanoma in a 42-year-old Chinese woman. Ten months previously the patient found a 2-cm asymmetric erythematous macular plaque on her left sole. The lesion was diagnosed as verruca plantaris by every physician the patient consulted. One month ago, an enlarged lymph node was detected in the left groin, which biopsy reported as metastatic melanoma. Dermoscopy suggested verruca plantaris, and positron emission tomography (PET) revealed increased glucose metabolism in the macular plaque. Finally, biopsy of the plaque revealed amelanotic melanoma. Misdiagnosis and diagnostic delay are usually associated with poorer patient outcomes. Awareness of atypical presentations of acral melanoma is thus important for decreasing misdiagnosis rates and improving patient outcomes.
Assuntos
Humanos , Feminino , Adulto , Neoplasias Cutâneas/patologia , Verrugas/patologia , Melanoma Amelanótico/patologia , Dermatoses do Pé/patologia , Neoplasias Cutâneas/diagnóstico , Biópsia , Verrugas/diagnóstico , Melanoma Amelanótico/diagnóstico , Dermoscopia , Diagnóstico Diferencial , Erros de Diagnóstico , Diagnóstico Tardio , Dermatoses do Pé/diagnóstico , Metástase LinfáticaRESUMO
WHIM syndrome is a primary autosomal dominant immuno deficiency due to CXCR4 mutations characterized by mucocutaneous warts, hypogammaglobulinemia, recurrent bacterial infections and myelokathesis. Treatment consists in prophylactic antibiotics, immunoglobulin replacement and granulocyte or granulocyte/monocyte colony stimulating factors. We present the case of a 21 year old woman who showed leukopenia at 10 months of age and one year later multiple infections with hypogammaglobulinemia requiring intravenous immunoglobulin. During follow up she developed chronic neutropenia. A bone marrow aspiration showed increased myeloid series with predominance of immature elements. On the basis of infections, low levels of IgG, IgA, IgM and lymphopenia with absent memory B cells, a diagnosis of common variable immunodeficiency was made. She started intravenous immunoglobulin replacement and prophylactic antibiotics. At age 20, small warts in hands that progressed to forearms, knees, abdomen and face were recorded. CXCR4 gene sequencing was done detecting a heterozygous p.Arg334STOP mutation, confirming WHIM syndrome. This disease is infrequent and difficult to diagnose.
Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Mutação/genética , Receptores CXCR4/genética , Verrugas/diagnóstico , Verrugas/genética , Adulto , Diagnóstico Tardio , Feminino , Humanos , Doenças da Imunodeficiência Primária , Adulto JovemRESUMO
El síndrome WHIM es una inmunodeficiencia primaria de herencia autosómica dominante, debida a mutaciones en el gen CXCR4, que se caracteriza por verrugas cutáneo-mucosas, hipogammaglobulinemia, infecciones bacterianas recurrentes y mielocatesis. El tratamiento se basa en el uso de antibióticos profilácticos, gammaglobulina en dosis sustitutiva y factores estimulantes de colonias de granulocitos o de granulocitos y macrófagos, en forma crónica. Presentamos el caso de una mujer de 21 años que comenzó a los 10 meses de edad con leucopenia y al siguiente año múltiples infecciones con hipogammaglobulinemia requiriendo gammaglobulina endovenosa durante los episodios. Evolucionó con neutropenia crónica. Una punción aspiración de médula ósea mostró la serie mieloide aumentada con ligero predominio de elementos inmaduros. El cuadro fue interpretado como inmunodeficiencia común variable debido a la asociación de múltiples cuadros infecciosos, niveles disminuidos de IgG, IgM e IgA y linfopenia con disminución de linfocitos B de memoria, por lo que comenzó tratamiento sustitutivo con gammaglobulina endovenosa más antibióticos profilácticos. A los 20 años se registraron pequeñas verrugas en manos que progresaron hacia antebrazos, abdomen, cara y rodillas. Se realizaron estudios moleculares para la búsqueda de mutaciones en el gen CXCR4 donde se detectó la mutación p.Arg334STOP en estado heterocigota confirmando el diagnóstico de síndrome WHIM, que es una inmunodeficiencia infrecuente y de difícil diagnóstico.
WHIM syndrome is a primary autosomal dominant immuno deficiency due to CXCR4 mutations characterized by mucocutaneous warts, hypogammaglobulinemia, recurrent bacterial infections and myelokathesis. Treatment consists in prophylactic antibiotics, immunoglobulin replacement and granulocyte or granulocyte/monocyte colony stimulating factors. We present the case of a 21 year old woman who showed leukopenia at 10 months of age and one year later multiple infections with hypogammaglobulinemia requiring intravenous immunoglobulin. During follow up she developed chronic neutropenia. A bone marrow aspiration showed increased myeloid series with predominance of immature elements. On the basis of infections, low levels of IgG, IgA, IgM and lymphopenia with absent memory B cells, a diagnosis of common variable immunodeficiency was made. She started intravenous immunoglobulin replacement and prophylactic antibiotics. At age 20, small warts in hands that progressed to forearms, knees, abdomen and face were recorded. CXCR4 gene sequencing was done detecting a heterozygous p.Arg334STOP mutation, confirming WHIM syndrome. This disease is infrequent and difficult to diagnose.
Assuntos
Humanos , Feminino , Adulto , Adulto Jovem , Verrugas/diagnóstico , Verrugas/genética , Receptores CXCR4/genética , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Mutação/genética , Diagnóstico Tardio , Doenças da Imunodeficiência PrimáriaRESUMO
High intensity-sweeteners (HIS) are natural or synthetic substances, sweeter than sugar, providing sweetness without calories. Sweeteners are mainly used as an aid in losing weight, preventing obesity and controlling blood sugar levels for diabetics. The objective of this study was to evaluate the carcinogenic potential of the sweeteners aspartame, sucralose, sodium saccharin and steviol glycoside, using the test for detection of epithelial tumor clones in Drosophila melanogaster. Larvae of 72 ± 4h, obtained from wts/TM3 female mated with mwh/mwh males, were treated for approximately 48h with different concentrations of aspartame (0.85, 1.7, 3.4, 6.8 or 13.6 mM ); sucralose (0.5, 1.25, 2.5, 5.0 or 10 mM); sodium saccharin (25; 50; 100; 200 or 400 mM) and steviol glycoside (2.5; 5.0; 10; 20 or 40 mM). Water (Reverse Osmosis) and doxorubicin (DXR 0.4 mM) were used as negative and positive controls, respectively. No statistically significant differences were observed (p > 0.05) in tumor frequencies in individuals treated with all concentrations of these sweeteners when compared to negative control. It was therefore concluded that, in these experimental conditions, aspartame, sucralose, sodium saccharin and steviol glycoside have no carcinogenic effect in D. melanogaster.