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Cutis marmorata telangiectatica congenita is a rare congenital vascular malformation characterised by cutaneous vascular abnormalities, typically diagnosed at birth or in the early postnatal period. Although typically benign, this disease is associated with other systemic abnormalities, including rare ocular alterations, such as congenital glaucoma, cataracts and retinopathy.This manuscript describes a female infant, who presented with generalised livedo reticularis, a band of alopecia and cutaneous atrophy in the temporal region above the coronal suture. The patient was diagnosed with cutis marmorata telangiectatica congenita by a paediatrician, and an ophthalmological evaluation was requested. A funduscopy examination in both eyes showed temporal and superior retina with avascular areas with new vessels, venous dilations and shunts, and no retinal detachments. Given these findings, we performed retinal photocoagulation laser treatment with excellent results.This case report highlights the importance of early ophthalmological evaluation of children with this disease to prevent secondary complications, such as vitreous haemorrhage and tractional retinal detachment.

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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.

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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.

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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.

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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.

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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.

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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.

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Se conoce como cutis marmorata telangiectásica congénita a una malformación vascular benigna infrecuente, caracterizada por la presencia de parches localizados o generalizados, frecuentemente asimétricos, con reticulación, asociada en ocasiones a otras lesiones de la piel, y manchas eritematosas o violáceas presentes al nacimiento o de forma temprana(AU)

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To our knowledge, there are nine previous reports of patients with congenital scrotal agenesis (CSA), seven of which were bilateral, and unilateral in two, also named as hemiscrotal agenesis (HSA). Here, we report a male infant with the previously undescribed co-occurrence of HSA with cutis marmorata telangiectatica congenita (CMTC), and hydronephrosis due to vesicoureteral reflux, all of them on the left side. CMTC is a segmental vascular malformation usually attributed to mosaicism of a postzygotic mutation, whereas the mechanisms in the CSA involve a failure on the labioscrotal fold (LSF) development due to a localized 5α-reductase deficiency and/or androgen insensitivity. Since the skin with HSA was affected also by CMTC and by the fact that it exhibited lack of response to the topical testosterone treatment, all this suggests to us an androgen insensitivity mosaicism in our patient restricted to the left LSF, because skin with intact androgen receptors normally shows some type of response. Since CSA and/or HSA have been also seen in patients with PHACES, popitleal pterygium syndrome, or as part of a recently proposed familial entity with CSA (or agenesis of labia majora as its female counterpart), developmental delay, visual impairment, and moderate hearing loss, further reports could confirm this manifest genetic heterogeneity, highly evocative of somatic mosaicism in our patient.

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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.

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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.

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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.

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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

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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

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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

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