Incontinência pigmentar ligada ao X ou síndrome de Bloch-Sulzberger: relato de um caso

Abstract

Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. Skin manifestations are the most common and occur in four quite distinct phases. A female infant presented vesiculobullous lesions on trunk and limbs, and a verrucous lesion on the right palm. Biopsy revealed eosinophil exocytosis and pigment incontinence, confirming the clinical hypothesis. Although uncommon, incontinentia pigmenti should be taken into consideration as a possible differential diagnosis when vesiculobullous and verrucous lesions are present in childhood. Keywords: genetics; incontinentia pigmenti; X chromosome Resumo: A incontinência pigmentar é uma genodermatose rara, ligada ao X, que afeta, principalmente, neonatos do sexo feminino. As manifestações cutâneas são as mais prevalentes, e ocorrem em quatro fases bem distintas. Lactente feminina com lesões vesicobolhosas em tronco e membros e lesão verrucosa em palma. À biopsia, observou-se exocitose eosinofílica e derrame pigmentar, compatível com a suspeita clíni-ca. Apesar de incomum, a incontinência pigmentar deve ser lembrada entre os diagnósticos diferenciais, de lesões vesicobolhosas e verrucosas da infância. Palavras-chave: Cromossomo X; Genética; Incontinência pigmentar

Você conhece esta síndrome?

“…The NF-KB essential modulator (NEMO) gene is indispensable in the process of NF-KB activation. 4,5 Recently, the cause of IP was attributed to a mutation that inactivates the NEMO gene located at chromosome X (q28). 2 The cutaneous presentation of IP regresses spontaneously through the selective elimination of the cells with mutant chromosome X and their gradual substitution by normal cells.…”

Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection

“…The first cases of the disease were reported by Garrod in 1906 [3], after that Bloch and Sulzberger defined this disorder in 1926 and 1928, respectively [4], as a clinical syndrome with a constellation of unique features that include typical cutaneous manifestations. Up until 1987, only 700 cases had been reported in the literature but have a worldwide distribution and more common among white patients.…”

Alterações estomatognáticas e de fala são comuns entre crianças com incontinência pigmentar

“…In most cases, it is considered lethal for male fetuses still in utero (1,3) . However, there are reported cases of male patients with mosaicism for the disease and with Klinefelter syndrome (4) . The estimated frequency of IP is 1 in 50,000 infants.…”