cutis laxa

cutis laxa
a group of disorders of the elastic fiber network in which the skin lacks elasticity and resilience and hangs in loose, pendulous folds. Hereditary forms are genetically heterogeneous and vary in severity and may be present at birth or develop soon afterwards; there is also a rare acquired from. The autosomal recessive form can be caused by several mutations: in either of two fibulin genes (FBLN4, locus: 11q13; FBLN5, locus: 14q32.1); in the ATP6V0A2 gene (locus: 12q24.3), which encodes a proton pump subunit; and in the PYCR1 gene (locus: 17q25.3), which encodes pyrroline-5-carboxylate reductase. It is associated with severe complications, including pulmonary and cardiovascular anomalies, diverticula of the urinary and gastrointestinal tracts, and multiple hernias. The autosomal dominant form is caused by mutation in either the elastin gene (ELN, locus: 7q11.2) or the fibulin 5 gene (FBLN5) and is essentially benign and of only cosmetic significance. The X-linked recessive form is occipital horn syndrome (q.v.). The acquired form, which is often preceded by mild fever, usually presents after puberty and sometimes not until middle age or later. Individuals with cutis laxa have a prematurely aged appearance, hooked nose with everted nostrils, long upper lip, everted lower eyelids, and sagging cheeks. Called also dermatochalasis, dermatomegaly, generalized elastolysis, and lax or loose skin.

Medical dictionary. 2011.

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  • Cutis laxa — Classification and external resources ICD 10 L57.4, Q82.8 (ILDS Q82.816) ICD 9 …   Wikipedia

  • cutis laxa — calasodermia o dermatolisis. Hipertrofia de la piel y tejidos subcutáneos con relajación de la misma y tendencia a la formación de pliegues Diccionario ilustrado de Términos Médicos.. Alvaro Galiano. 2010. cutis laxa Piel flácida, relajada,… …   Diccionario médico

  • cutis-laxa — ● cutis laxa nom féminin invariable (latin cutis, peau, et laxa, détendue) Altération des propriétés viscoélastiques des tissus de soutien se manifestant particulièrement au niveau de la peau …   Encyclopédie Universelle

  • Cutis laxa — La cutis laxa (du latin, « peau lâche » ou « relâchée », également appelée dermatolysie) est un groupe de maladies génétiques rares des tissus conjonctifs lesquels deviennent inélastiques et plissés. La plupart du temps, la… …   Wikipédia en Français

  • cutis laxa — ▪ pathology       rare disorder in which the skin hangs in loose folds. The cause of cutis laxa is unknown, but the defect appears to be an abnormality in the formation or structure of the protein elastin, the principal component of the elastic… …   Universalium

  • Cutis laxa-Syndrom — Dermatochalasis (fachsprachlich) …   Universal-Lexikon

  • Cutis pleonasmus — is an acquired disorder that arises following massive weight loss, in which redundant skin hangs loosely in folds. Weight loss may follow behaviour modification (diet, exercise), bariatric surgery, or correction of an underlying medical disorder …   Wikipedia

  • cutis — SYN: skin. [L.] c. anserina contraction of the arrectores pilorum produced by cold, fear, or other stimulus, causing the follicular orifices to become prominent. SYN: goose flesh, gooseflesh. c. laxa [MIM*123700] SYN: dermatochalasis. c.… …   Medical dictionary

  • Aplasia cutis congenita — Classification and external resources Aplasia cutis congenita ICD 10 Q …   Wikipedia

  • generalized elastolysis — cutis laxa …   Medical dictionary

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