Esclerose tuberosa: avaliação de miofibroblastos em angiofibromas cutâneos - relato de caso / Tuberous sclerosis: evaluation of myofibroblasts in cutaneous angiofibromas - case report

Esclerose tuberosa é uma condição rara e autossômica dominante. Miofibroblastos são células que exibem fenótipo híbrido entre fibroblastos e células musculares lisas. O objetivo deste caso clínico é mostrar as características clínicas e histopatológicas da esclerose tuberosa e avaliar miofibroblastos nos angiofibromas cutâneos dessa condição. Lesões removidas foram coradas em HE e tricrômico de Masson. Para determinar a presença de miofibroblastos foi usada imunoistoquímica para α-SMA. Essa reação mostrou-se negativa para miofibroblastos. Como α-SMA é um marcador específico para essas células, esse resultado sugere que miofibroblastos não estejam envolvidos com os angiofibromas da esclerose tuberosa descrita.

Tuberous sclerosis is a rare autosomal dominant disorder. Myofibroblasts are cells with a hybrid phenotype between fibroblasts and smooth muscle cells. The objective of this study is to describe clinical and histopathological characteristics of tuberous sclerosis and to conduct an immunohistochemical evaluation of myofibroblasts in cutaneous angiofibromas present in this condition. Lesion sections removed were stained with hematoxylin-eosin and Masson's trichrome. Immunohistochemistry against α-SMA was done to determine the presence of myofibroblasts, and the reaction was negative. Since α-SMA is a specific marker for myofibroblasts, this result suggests that myofibroblasts are not involved in cutaneous angiofibromas present in the tuberous sclerosis case reported.

Tuberous sclerosis with portal vein thrombosis, protein C and S deficiency.

A 29-year-old lady with a bad obstetric history and portal vein thrombosis, presented to the Skin OPD for facial lesions. On examination, angiofibromas on face, shagreen patch and periungual fibromas were observed. She also had dental pits and a retinal hamartoma. Investigations revealed hamartomas in the brain and kidney. Hematological work-up showed protein C and S deficiency with Factor V Leiden positivity. Except for the cutaneous symptoms, the patient did not have any clinical manifestations in other organs affected by tuberous sclerosis. A similar association of tuberous sclerosis with protein C deficiency has been reported in only one case in literature.

Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito.

Tuberous sclerosis complex (TSC) and hypomelanosis of Ito (HI) are two uncommon neurocutaneous syndromes and their coexistence is extremely rare. An epileptic child presented with progressively increasing multiple hypopigmented macules arranged in a linear and whorled pattern along the lines of Blaschko over the trunk and limbs, characteristic of HI. He also had facial angiofibromas, ash-leaf and confetti macules and shagreen patches. Magnetic resonance imaging of the brain showed cortical tubers and subependymal nodules; which are diagnostic of TSC. The TSC defining loci have been mapped to Chromosome 9q34 (TSC1) and 16 pl3.3 (TSC2). There is no common genetic background for HI, but mosaicism of 9q33 locus has been documented. As per our knowledge, this is the second case of association of TSC with HI in a four-year-old child.

Síndrome de Kartagener associada ao angiofibroma nasal: relato de um caso / Kartagener's syndrome with nasal angiofibroma: report of a case

Os autores apresentam um caso de paciente do sexo masculino, portador da síndrome de Kartagener, no qual verificaram a existência de pequeno angiofibroma nasal, envolto em massa polipóide