Dados do Trabalho

Título

CONGENITAL CUTIS MARMORATA TELANGIECTATICA: A CASE REPORT

Apresentação do caso

A young male, 11 years old, with moderate cognitive deficit not investigated, presented generalized tonic-clonic epileptic seizure followed by loss of muscle strength on the left. On examination, the patient presented left complete hemiplegia, drowsiness, dysarthria and mental confusion. From birth, he presented disseminated erythema, asymmetrical, without elevation or atrophy, which disappeared the digit pressure and asymmetry of the lower limbs. Had aTomography scan without evidence of ischemia. Electroencephalogram showed right frontotemporal focal status epilepticus and disorganized base activity with excess of slow waves on the right. Antiepileptic drug treatment with seizure control, improvement of electroencephalographic tracing and complete recovery of muscle strength was initiated. Cranial resonance showed cortical asymmetry and periventricular heterotopias. Ophthalmologic examination showed detachment of the left retina. After dermatological and genetic investigation, the patient was diagnosed with congenital Cutis marmorata telagiectatica and identified mutation in the GNA11 gene in skin biopsy.

Discussão

Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation described as a persistent reticulated marbled violaceous erythema that lightens with pressure and does not resolve with heating.To date, about 300 cases have been reported. Both genders are equally affected. More than 50% of patients have associated skin or extracutaneous abnormalities such as limb asymmetry, vascular lesions, psychomotor delay, seizures, and hypotonia, ocular abnormalities (retinal detachment and glaucoma), syndactyly, and macrocephaly. More recent studies have identified mutations in GNA11 in skin biopsies of affected skin areas, however, the diagnosis is still clinical. The persistence of skin changes with heating distinguishes CMTC from physiological cutis marmorata.

Comentários finais

CMTC is a relatively benign disease, however, healthcare professionals should be aware of the associated anomalies, which can have serious consequences if left unrecognized and not treated. Further studies should shed light on whether molecular genetics should be part of the diagnostic process in the future. The marbled erythema characteristic of CMTC can also be seen in other more serious conditions that require different therapeutic approaches, such as Klippel-Trenaunay syndrome and Sturge-Weber syndrome, which underscores the importance of correct diagnosis.

Referências (se houver)

Palavras Chave

CONGENITAL CUTIS MARMORATA TELANGIECTATICA; violaceous erythema; extracutaneous abnormalities; focal status epilepticus

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

We declare that there are no conflicts of interest

Área

Manifestações neurológicas das doenças sistêmicas