Asunto(s)
Livedo Reticularis , Enfermedades Cutáneas Vasculares , Telangiectasia , Humanos , Telangiectasia/congénito , Telangiectasia/diagnóstico , Livedo Reticularis/diagnóstico , Recién Nacido , Enfermedades Cutáneas Vasculares/diagnóstico , Enfermedades Cutáneas Vasculares/congénito , Masculino , FemeninoAsunto(s)
Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Cutáneas Vasculares/congénito , Brazo , Niño , Enfermedades Genéticas Ligadas al Cromosoma X/terapia , Humanos , Láseres de Estado Sólido/uso terapéutico , Masculino , Fosfatos/administración & dosificación , Enfermedades Cutáneas Vasculares/diagnóstico , Enfermedades Cutáneas Vasculares/terapia , Titanio/administración & dosificaciónRESUMEN
BACKGROUND: Angioma serpiginosum is a rare vascular anomaly whose pathogenesis is still unknown. It is characterized by the onset of vascular reddish macules and papules during childhood, lesions are usually monolateral with a linear serpiginous pattern. It is rarely associated with extracutaneous findings. This entity has not yet been included in the classification of the International Society for the Study of Vascular Anomalies. CASE PRESENTATION: We describe the first Italian report of angioma serpiginosum with a congenital symmetrical presentation. The patient had a further extension of macules during puberty involving both of the soles. No extracutaneous manifestations were present. Diagnosis was confirmed with dermoscopy and light microscopy that revealed the typical clusters of dilated, thickened and PAS+ capillaries in the upper dermis. Moreover, Immunohistochemistry showed positive WT-1 staining. Genetic analysis with next generation sequencing did not detected any mutation. CONCLUSIONS: Our patient presented a peculiar symmetrical and planar extension with a serpiginous linear pattern. The proliferative nature of this condition has been widely discussed in literature. In our case immunohistochemistry was positive for Wilms tumor-1, a new endothelial marker expressed during angiogenesis in reparative processes and endothelial tumors. Clinical evolution, histological and immunohistochemical findings suggest that angioma serpiginosum should be considered as a vascular proliferation. For these reasons we think it should be included in the international classification as a tumor.
Asunto(s)
Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Cutáneas Vasculares/congénito , Adolescente , Niño , Enfermedades Genéticas Ligadas al Cromosoma X/terapia , Humanos , Masculino , Enfermedades Cutáneas Vasculares/diagnóstico , Enfermedades Cutáneas Vasculares/terapiaAsunto(s)
Hipoplasia Dérmica Focal/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Mosaicismo , Enfermedades Cutáneas Vasculares/congénito , Aciltransferasas/genética , Adulto , Biopsia , Análisis Mutacional de ADN , Dermoscopía , Diagnóstico Diferencial , Femenino , Hipoplasia Dérmica Focal/sangre , Hipoplasia Dérmica Focal/genética , Hipoplasia Dérmica Focal/patología , Mutación del Sistema de Lectura , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Humanos , Proteínas de la Membrana/genética , Piel/diagnóstico por imagen , Piel/patología , Enfermedades Cutáneas Vasculares/diagnóstico , Enfermedades Cutáneas Vasculares/genética , Enfermedades Cutáneas Vasculares/patologíaAsunto(s)
Dermoscopía , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico por imagen , Mancha Vino de Oporto/diagnóstico por imagen , Enfermedades Cutáneas Vasculares/congénito , Adulto , Diagnóstico Diferencial , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Humanos , Masculino , Mancha Vino de Oporto/patología , Piel/diagnóstico por imagen , Piel/patología , Enfermedades Cutáneas Vasculares/diagnóstico por imagen , Enfermedades Cutáneas Vasculares/patologíaRESUMEN
No disponible
Asunto(s)
Humanos , Masculino , Lactante , Enfermedades Cutáneas Vasculares/clasificación , Enfermedades Cutáneas Vasculares/congénito , Enfermedades Cutáneas Vasculares/diagnóstico , Enfermedades Cutáneas Vasculares/prevención & control , Enfermedades Cutáneas Vasculares/terapiaAsunto(s)
Mastocitosis Cutánea/diagnóstico , Telangiectasia/diagnóstico , Enfermedades Asintomáticas , Diagnóstico Diferencial , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Antagonistas de los Receptores Histamínicos/uso terapéutico , Humanos , Masculino , Mastocitosis Cutánea/tratamiento farmacológico , Mastocitosis Cutánea/patología , Persona de Mediana Edad , Piel/patología , Enfermedades Cutáneas Vasculares/congénito , Enfermedades Cutáneas Vasculares/diagnóstico , Telangiectasia/tratamiento farmacológico , Telangiectasia/patologíaRESUMEN
BACKGROUND: Angioma serpiginosum (AS) is a rare vascular abnormality consisting of proliferation and dilation of superficial blood vessels in the skin. AS typically presents in the first 2 decades of life and remains stable with time. CASE SUMMARY: We report the case of a 13-year-old female with an acquired, recurrent erythematous lesion with serpiginous borders on her left upper arm. Over several years, the lesion reappeared then disappeared 12 to 15 times. At one point, she developed a tender red nodule within the lesion; consequently, a biopsy was taken, revealing dilated telangiectatic vessels in the dermal papillae with mild, focal extravasation of erythrocytes. CONCLUSION: This case demonstrates a lesion with suggestive clinical and histological features of AS. However, this may be the first case of recurrent AS with a symptomatic episode. This case may contribute to the expanding clinical spectrum of this interesting disease entity.
Asunto(s)
Enfermedades Genéticas Ligadas al Cromosoma X , Enfermedades Cutáneas Vasculares/congénito , Adolescente , Brazo/patología , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Humanos , Piel/patología , Enfermedades Cutáneas Vasculares/diagnóstico , Enfermedades Cutáneas Vasculares/patologíaRESUMEN
A 39-week-old male newborn presented at birth with atrophic erythematous and purpuric skin lesions, in a typical right-sided segmental distribution. Lesions were persistent and unaffected by rewarming in the postpartum period. Postnatal echocardiogram showed a predominance of the right cavities and an upper atrial septal defect. Cerebral and abdominal ultrasound were normal along with ophthalmological examination. On follow-up, lower limbs asymmetry was noted. The right lower limb was shorter in length and had a smaller diameter. At 6 months, the right lower limb was 1.5 cm shorter than the left, most likely related to nutritive vessels malformations. The discrepancy was even more pronounced at the age of 9 months. This leg-length asymmetry can lead to severe functional limitations in the future.
Asunto(s)
Atrofia/patología , Diferencia de Longitud de las Piernas/congénito , Enfermedades Cutáneas Vasculares/congénito , Enfermedades Cutáneas Vasculares/patología , Telangiectasia/congénito , Anomalías Múltiples , Atrofia/etiología , Progresión de la Enfermedad , Estudios de Seguimiento , Humanos , Recién Nacido , Diferencia de Longitud de las Piernas/fisiopatología , Livedo Reticularis , Extremidad Inferior , Masculino , Enfermedades Cutáneas Vasculares/complicaciones , Enfermedades Cutáneas Vasculares/diagnóstico , Enfermedades Cutáneas Vasculares/fisiopatología , Telangiectasia/complicaciones , Telangiectasia/diagnóstico , Telangiectasia/fisiopatología , Factores de TiempoAsunto(s)
Lipoma/genética , Anomalías Musculoesqueléticas/genética , Mutación Missense/genética , Nevo/genética , Fosfatidilinositol 3-Quinasas/genética , Malformaciones Vasculares/genética , Fosfatidilinositol 3-Quinasa Clase I , Extremidades , Heterocigoto , Humanos , Lipoma/congénito , Mosaicismo , Nevo/congénito , Enfermedades Cutáneas Vasculares/congénito , Enfermedades Cutáneas Vasculares/genéticaRESUMEN
We report the case of a 35-year-old woman with deep-red asymptomatic macules on the plantar and dorsal skin of the right great toe. Histopathologic findings were compatible with Angioma serpiginosum. Immunohistochemical stains for estrogens and progesterone receptors were negative. Dermoscopy showed an erythematous parallel ridge pattern with double rows of irregular dots and globules. We report an unusual case of angioma serpiginosum with acral volar skin involvement. The dermoscopic features described may aid in the diagnosis of AS in this specific skin area. Acral volar skin involvement must be included in the clinical spectrum of Angioma serpiginosum and in the differential diagnosis of acral vascular lesions.
Asunto(s)
Dermatosis del Pie/patología , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Enfermedades Cutáneas Vasculares/congénito , Adulto , Dermoscopía , Eritema/patología , Femenino , Humanos , Factores Sexuales , Piel/patología , Enfermedades Cutáneas Vasculares/patologíaRESUMEN
We report the case of a 35-year-old woman with deep-red asymptomatic macules on the plantar and dorsal skin of the right great toe. Histopathologic fi ndings were compatible with Angioma serpiginosum. Immunohistochemical stains for estrogens and progesterone receptors were negative. Dermoscopy showed an erythematous parallel ridge pattern with double rows of irregular dots and globules. We report an unusual case of angioma serpiginosum with acral volar skin involvement. The dermoscopic features described may aid in the diagnosis of AS in this specifi c skin area. Acral volar skin involvement must be included in the clinical spectrum of Angioma serpiginosum and in the differential diagnosis of acral vascular lesions.
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