The differential diagnoses mainly include anetoderma, mid-dermal
elastolysis, focal dermal hypoplasia, lupus panniculitis, and localized scleroderma.
These changes include mast cell degranulation and the presence of activated macrophages in association with mid-dermal
elastolysis.
Type 3 includes patients of MKS with evidence of extrapulmonary
elastolysis.
DISCUSSION: (1, 2, 3) Cutis laxa (Latin for loose or lax skin) also known as Generalized
Elastolysis / Dermatomegaly / Dermatolysis / Dermatochalasia / Generalized elastorrhexis / Pachydermatocele is an Orphan disease (a very rare disease) related to a heterogeneous connective tissue disorder in which the skin becomes inelastic and hangs loosely in folds.
13) A characteristic finding is the presence of extensive collagenolysis and
elastolysis, resulting in "floating fat" separated from the surrounding reticular dermis and the pannicular septa.
Enhanced synthesis of microfibrils may occur in response to
elastolysis as a reparative phenomenon, but it also represents a response of the blood vessel wall and pulmonary tissue to
elastolysis [27].
Then activation of matrix metalloproteinase 2 causes
elastolysis of elastin and fibrillar collagen in arterial media.
Collagen bundles appear to unravel, and the individual elastic fibers show signs of
elastolysis.
Some studies have revealed signs of
elastolysis and altered elastin content in diabetic arteries (14-16).
Gambichler T, Breuckmann F, Kreuter A, Boms S, Altmeyer P, Stucker M: Immunohistochemical investigation of mid-dermal
elastolysis.
Clinically visible pseudoxanthoma elasticum-like skin lesions are not pathognomonic for this disease, because they also occur in late-onset focal dermal elastosis, (22) beta-thalassemia, (23) adult patients with deforming osteitis (Paget's disease) or osteoectasia, (24) farmers exposed to saltpeter fertilizers, (25) pseudoxanthoma elasticum-like papillary dermal
elastolysis, (26) and patients who have had penicillamine therapy.
Other possible mechanisms for HHCE-mediated atherogenesis include altered methylation of DNA, altered cell-membrane regulatory proteins, decreased bioavailability of nitric oxide, increased
elastolysis and collagen accumulation, over-stimulation of N-methyl-D-aspartate receptors, and excessive adhesion of monocytes and neutrophils to endothelium.
