Cutis laxa

Deletions in the elastin gene (located at 7qll.23) have been found in approximately 90% of subjects with Williams syndrome, a developmental disorder affecting connective tissue and the central nervous system. The mutations, by affecting synthesis of elastin, probably play a causative role in the supravalvular aortic stenosis often found in this condition. A number of skin diseases (eg, scleroderma) are associated with accumulation of elastin. Fragmentation or, alternatively, a decrease of elastin is found in conditions such as pulmonary emphysema, cutis laxa, and aging of the skin. 

Penicillamine First Cutis laxa, other congenital malformations... 

Acquired cutis laxa has been mentioned in a single child taking isoniazid, but it was probably coincidental (37). 

Koch SE, Williams ML. Acquired cutis laxa case report and review of disorders of elastolysis. Pediatr Dermatol 1985 2(4) 282-8. 

Early effects are gastrointestinal upsets and, more characteristically, loss of taste. Although a fall in the number of platelets is common, serious thrombocytopenia is less frequent. After long-term use of high doses, skin collagen and elastin are impaired, resulting in increased friability and sometimes in disorders such as perforating elastoma or cutis laxa the latter has also been observed in neonates. 

Elastosis perforans serpiginosa Pseudoxanthoma elasticum Cutis laxa (hyperelastica)... 

Elastosis perforans serpiginosa, cutis laxa, and pseudoxanthoma elasticum... 

Cutis laxa presents with loose redundant skin folds, reduced elasticity of the skin, and connective tissue involvement. 

In one patient the characteristic features of both of elastosis perforans serpiginosa and cutis laxa developed (276). 

Hill VA, Seymour CA, Mortimer PS. Pencillamine-induced elastosis perforans serpiginosa and cutis laxa in Wilson s disease. Br J Dermatol 2000 142(3) 560-1. 

Several collagen disorders result from defects in the formation of cross-links (Chapter 11). The cross-linking disorders can be due to a hereditary deficiency of lysyl oxidase, inhibition of lysyl oxidase, deficiency of copper, defects in the formation of cross-links, or defects in their stabilization. The genetic deficiency of lysyl oxidase is characterized by Ehlers-Danlos syndrome type IX (Table 25-5) and some forms of cutis laxa. Type IX Ehlers-Danlos syndrome patients exhibit extreme extensibility of the skin, cigarette-paper scarring, and easy bruisability. In cutis laxa, the skin is loose and inelastic and appears to be too large for the surface it covers. Some affected individuals exhibit deficiency of lysyl oxidase, presumably... 

Copper is necessary, together with iron, for hematopoiesis, probably partly because it is needed for the synthesis of fer-roxidase (ceruloplasmin). Many enzymes require copper for activity. Examples of some of the copper-enzymes and their functions are given in Table 37-5. Mitochondrial iron uptake may be blocked by deficiency of a cuproprotein, perhaps cytochrome oxidase. Several inherited diseases involving abnormalities in copper metabolism (Wilson s disease, Menkes syndrome) or copper enzymes (X-linked cutis laxa, albinism) occur in human and in several animal species. 

Ehlers-Danlos V and Decreased cross-linking Skin and joint hyperextensibility cutis laxa... 

C. Wilmot, et al.. An elastin gene mutation producing abnormal tro-poelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum. Mol. Genet. 7 (1998) 1021-1028. 

Wrinkling much cutis laxa of actinic, gravitational, and dynamic origin... 

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