Cútis laxa: relato de caso

Abstract

Cutis laxa is a rare inherited or acquired disorder of elastic tissue characterized by inelastic and loose skin. Congenital cutis laxa may present with internal organ involvement, determining a worse prognosis. The authors present the case of a female patient with clinical manifestations suggestive of the hereditary form of the disease, with consanguineous parents (second-degree cousins) and a brother who died with a similar clinical presentation. The genetic study of the FBLN5 gene was important to confirm the diagnosis, define the prognosis, and provide genetic counseling to the family. Keywords: Consanguinity; Cutis laxa; Genetic counseling Resumo: A Cútis laxa é uma doença rara, hereditária ou adquirida. Resulta da alteração do tecido elástico, tornando a pele frouxa e inelástica. A forma congênita tem geralmente acometimento sistêmico, com pior prognóstico. Os autores relatam o caso de uma paciente, com quadro clínico sugestivo da forma hereditária da doença, com pais consangüíneos (primos de 2º grau) e irmão falecido com clínica semelhante. O estudo genético do gene FBLN5 teve importância na confirmação diagnóstica, na definição do prognóstico e no aconselhamento genético familiar.

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

“…It is critical for correct deposition of elastin, mediates cell-matrix communication and regulates organogenesis, fibrogenesis, vascular remodelling and tumour metastasis (Zheng et al , 2007; Yanagisawa et al , 2009). Three homozygous missense mutations (p.C217R, p.S227P and p.R284X) in FBLN5 have been reported in patients with an autosomal recessive, generalized form of the connective tissue disorder cutis laxa (Loeys et al , 2002; Elahi et al , 2006; Hu et al , 2006; Claus et al , 2008; Nascimento et al , 2010), and a heterozygous in-frame tandem duplication of exons 5–8 in FBLN5 was seen in a sporadic patient with cutis laxa suggesting that the large protein acts in a dominant negative way (Markova et al , 2003). Ten distinct, heterozygous FBLN5 missense mutations have been associated with age-related macular degeneration, the leading cause of severe visual loss among patients older than 50 years in the western world (Stone et al , 2004; Lotery et al , 2006; Jones et al , 2009, 2010; Schneider et al , 2010).…”

Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature

“…[ 3 ] CL autosomal recessive Type 1 was associated with severe systemic complication, which includes severe aortic stenosis and infantile emphysema that has a poor prognosis. [ 4 ] CL autosomal recessive Type 2 was characterized by abnormal elastic skin, joint deformity, and delay development. [ 5 ] The acquired form of CL was characterized by premature aging with or without systemic involvement.…”

“…reported a case of a hereditary form of CL in a 33-month-old girl with unilateral pneumothorax and left inguinal hernia. [ 4 ] However, Genevieve et al . reported different presentations of fatal CL presented with severe emphysema complicated by lung infection, leading to patient death at the age of 10 months.…”