ABSTRACT
ABSTRACT Cutis marmorata telangiectasia congenita is a rare cutaneous vascular disorder that may be associated with different systemic manifestations like body asymmetry, cutaneous, ophthalmologic, vascular, and neurological manifestations. We describe ophthalmologic alterations found in three patients with cutis marmorata telangiectatica congenita highlighting the rare retinal manifestations.
RESUMO A Cutis marmorata telangiectasica congênita é uma desordem vascular cutânea rara que pode estar associada a diferentes manifestações sistêmicas, como assimetria corporal, alterações cutâneas, oftalmológicas, vasculares e neurológicas. Descrevemos alterações oftalmológicas encontradas em três pacientes com cutis marmorata telangiectasia congênita, destacando as raras manifestações retinianas.
Subject(s)
Humans , Telangiectasis/congenital , Skin Diseases, Vascular , RetinaABSTRACT
Abstract: Glomus tumors are rare hamartomas that originate from the glomus body. These tumors can be divided into solitary and multiple, the latter also known as glomangioma. We report the case of two patients with a rare variety of glomangioma called congenital plaque-like glomangioma. It presents as numerous red to bluish compressible papules, that increase in size in proportion with the weight and height growth of the child. Diagnostic confirmation is with histopathology and the treatment is surgical.
Subject(s)
Humans , Female , Adult , Skin Neoplasms/congenital , Glomus Tumor/congenital , Glomus Tumor/pathology , Skin Neoplasms/pathology , Telangiectasis/congenital , Telangiectasis/pathology , Rare Diseases/congenital , Rare Diseases/pathologyABSTRACT
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.
.Subject(s)
Humans , Male , Young Adult , Mongolian Spot/pathology , Neurocutaneous Syndromes/pathology , Nevus of Ota/pathology , Port-Wine Stain/pathology , Skin Diseases, Vascular/pathology , Skin Neoplasms/pathology , Telangiectasis/congenital , Neurocutaneous Syndromes/classification , Telangiectasis/pathologyABSTRACT
Neonatal lupus is a rare disease caused by the transplacental transfer of maternal autoantibodies to the foetus, characterized by transient clinical manifestations such as cutaneous, haematological, and hepatobiliary events or permanent such as congenital heart block. The typical cutaneous manifestations include erythematous, scaly, annular or arched lesions on the face, with slight central atrophy and photosensitivy, clinically and histologically similar to subacute cutaneous lupus. However, in some cases, the lesions may resemble those in cutis marmorata telangiectatica congenita, although this phenomenon is rare and only eight such cases have been reported to date. We report a case of cutaneous neonatal lupus with atypical lesions on the limbs, which had a reddish-purple marbled appearance, resembling the lesions in cutis marmorata telangiectatica congenita.
Lúpus neonatal é uma doença rara causada pela transferência de auto-anticorpos maternos para o feto, caracterizada por manifestações clínicas transitórias como cutâneas, hematológicas e hepatobiliares, ou permanentes como o bloqueio cardíaco congênito. As manifestações cutâneas típicas incluem lesões fotossensíveis descamativas, anulares ou arqueadas na face, com discreta atrofia central, clinica e histopatologicamente similares ao lúpus cutâneo subagudo. Entretanto, em alguns casos, as lesões podem lembrar aquelas da cutis marmorata telangiectatica congênita, mas esse fenômeno é raro e somente oito casos foram reportados até hoje. Nós relatamos aqui um caso de lúpus cutâneo neonatal com lesões atípicas nos membros de cor vermelho-purpúricas e aparência marmórea, semelhantes às lesões da cutis marmorata telangiectatica congênita.
Subject(s)
Female , Humans , Infant , Lupus Erythematosus, Systemic/congenital , Rare Diseases/pathology , Skin Diseases, Vascular/pathology , Telangiectasis/congenital , Lower Extremity/pathology , Lupus Erythematosus, Systemic/pathology , Telangiectasis/pathology , Upper Extremity/pathologyABSTRACT
Congenital Cutis Marmorata Telangiectasia (CCMT) is a skin vascular malformation of low flow compromi-sing venous and capillary vessels. Of unknown origin, it shows in an estimated 1/3 000 births. In over 90 percent of cases it can be seen since birth, although it can appear on the first few days after. Clinical manisfestation includes poorly defined reticular erythematopurpureal maculae, frequently associated to ßreas of segmental, asymetric skin atrophy, most often seen in the lower extremitie. The diagnosis is mostly clinical, important to make as it is associated in 30 percent) of cases to other congenital abnormalities. No specific treatment is required, with spontaneous resolution. Prognosis is good, depending on the associated malformations. Four patients are described in this paper, as a reminder of the clinical entity.
El Cutis Marmorata Telangiectático Congénito (CMTC) es un tipo de malformación vascular cutánea de bajo flujo que compromete vasos capilares y venosos. Su causa es desconocida y tiene una incidencia estimada de 1/3 000 recién nacidos. En más del 90 por ciento> de los casos se presenta desde el nacimiento. Sin embargo, también puede aparecer en los primeros días de vida. Clínicamente se observan máculas eritematovioláceas, de aspecto reticulado, de bordes mal definidos, asociado frecuentemente a zonas de atrofia cutánea, de distribución segmentaria, asimétricas. Se ubican de preferencia en las extremidades, siendo las inferiores las más afectadas. El diagnóstico es fundamentalmente clínico y su importancia radica en que aproximadamente el 30 por ciento> de los casos se asocia a otras anomalías congénitas, la mayoría de carácter leve. No tiene un tratamiento específico, ya que evoluciona en poco tiempo a la resolución en forma espontánea. El pronóstico es generalmente bueno, aunque depende de las anomalías asociadas. En este artículo se presentan cuatro pacientes cuya historia clínica es compatible con este diagnóstico, para dar a conocer esta entidad clínica a los pediatras.
Subject(s)
Humans , Male , Female , Infant, Newborn , Skin Diseases, Vascular/congenital , Skin Diseases, Vascular/diagnosis , Telangiectasis/congenital , Telangiectasis/diagnosis , Diagnosis, Differential , Skin Diseases, Vascular/therapy , Prognosis , Retrospective Studies , Telangiectasis/therapyABSTRACT
In this case report we describe the first case of hemophagocytic lymphohistiocytosis with concurrent cutis marmorata telangiectatica congenita. She had pancytopenia and hepatosplenomegaly, hemophagocytic cells in spleen necropsy, and she died with respiratory failure and pseudomonas induced septicemia
Subject(s)
Humans , Female , Telangiectasis/congenital , Skin Diseases, Vascular/complications , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/pathology , Telangiectasis/pathology , Bone Marrow/pathology , Skin/pathologySubject(s)
Fatal Outcome , Female , Humans , Infant , Severity of Illness Index , Skin Diseases/congenital , Telangiectasis/congenitalABSTRACT
Se presenta el primer caso de cutis marmorata teleangieclásica congénita (CNTC), atendido en la Unidad de Dermatología, Venereología y Alergia del Dispensario 31, Guayaquil, Ecuador. Se trata de un niño de seis meses de edad, nacido de parto eutócico, con lesiones dermatológica congénitas de distribución segmentaria, caracterizadas por máculas de color rojo vinoso de aspecto reticulado, asintométicas, localizadas en cara, tórax y extremidades
Subject(s)
Telangiectasis/congenital , Ecuador , Infant, Newborn, Diseases , Skin DiseasesABSTRACT
Se presenta un caso e cutis marmorata telangiectásica congénita con malformaciones múltiples de órganos dependientes del ectodermo anemia ferripriva, conjuntivitis purulenta a estafilococo coagulasa positiva y moniliasis oral, que es el noveno descrito en América y el primero informado en Cuba