Cutis laxa

Cutis laxa
Classification and external resources
ICD-10 L57.4, Q82.8 (ILDS Q82.816)
ICD-9 701.8, 756.83
OMIM 123700 219100 219200 304150
DiseasesDB 29439
eMedicine derm/03
MeSH D003483

Cutis laxa (also known as "Chalazoderma," "Dermatochalasia,"[1] "Dermatolysis," "Dermatomegaly," "Generalized elastolysis," "Generalized elastorrhexis,"[1] and "Pachydermatocele"[2]) is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.

Contents

Causes

In most cases, cutis laxa is inherited. Autosomal dominant, autosomal recessive and X-linked recessive forms have been described, but acquired forms also occur.

In patients suffering from cutis laxa, mutations in the elastic fibers comprising the dermis have been identified.

Cutis laxa may be caused by mutations in the genes: ELN,[3] ATP6V0A2,[4] ATP7A,[5]FBLN4,[6] FBLN5,[7] and PYCR1.[8] A related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 aka P5CS.[9]

Presentation

It is characterized by skin that is loose, hanging, wrinkled, and lacking in elasticity. The loose skin is often most noticeable on the face, resulting in a prematurely aged appearance. The affected areas of skin may be thickened and dark. In addition, the joints are loose (hypermobility) because of lax ligaments and tendons. When cutis laxa is severe, it can also affect the internal organs. The lungs, heart, intestines, or arteries may be affected with a variety of severe impairments. In some cases, hernias and outpouching of the bladder can be observed.

See also

References

  1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 515. ISBN 0-7216-2921-0.
  3. ^ Online 'Mendelian Inheritance in Man' (OMIM) CUTIS LAXA, AUTOSOMAL DOMINANT -123700
  4. ^ Online 'Mendelian Inheritance in Man' (OMIM) CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II -219200
  5. ^ Online 'Mendelian Inheritance in Man' (OMIM) CUTIS LAXA, X-LINKED -304150
  6. ^ Online 'Mendelian Inheritance in Man' (OMIM) CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I -219100
  7. ^ Online 'Mendelian Inheritance in Man' (OMIM) 604580
  8. ^ Online 'Mendelian Inheritance in Man' (OMIM) 179035
  9. ^ Online 'Mendelian Inheritance in Man' (OMIM) 138250

External links



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Look at other dictionaries:

  • 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 — 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… …   Medical dictionary

  • 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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