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Health Professionals

If you wish to know if in your country, your  area, your town, there is a doctor who knows  Cutis Laxa, go to the list of  doctors to whom we regularly send our information, either they follow sufferers we know, or they are particularly interested in this rare disease. This list is not exhaustive, neither an  advert  for these doctors. It is only informative

If you want to know more about the progresses of the research projects in Europe and in the USA, please go to our  Research  page.

The information contained in this page has been extracted from  an article written by Tina Mollis, MD, PhD, on the website


Cutis Laxa (CL) is characterized by degenerative changes in elastic fibers resulting in loose, pendulous skin. Skin is sagging, redundant, and stretchable, with reduced elastic recoil.

In most cases of CL, the biochemical and molecular basis of skin changes are unclear. However,  histopathology of skin in several patients reveals alterations in the quantity or morphology of elastin in which there is fragmentation or loss of elastic fibers. Additionally, there is evidence of abnormal cross-linking of elastin in some patients with CL.

Recent studies have shown that several factors such as copper deficiency, lysyl oxidase, elastases, and elastase inhibitors contribute to abnormal elastin degradation. Lysyl oxidase, a copper-dependent enzyme, is important in the synthesis and cross-linking of elastin and collagen. Therefore, low levels of serum copper could lead to decreased activity of elastase inhibitor alpha-1 antitrypsin, resulting in destruction of elastic fibers.

Cultured dermal fibroblasts from patients with CL have shown increased elastolytic activity compared to normal skin, and it has been suggested that elastolysis results from increased elastase activity.

Inflammatory cells or their mediators might damage elastic fibers. Polymorphonuclear leukocytes and macrophages release elastases, which could damage elastic fibers with subsequent phagocytosis.

Excessive loss of cutaneous elastin in 1 patient with CL appeared to be related to combines effects of low lysyl oxidase activity together with high levels of cathepsine G, an elastolytic protease.

However, variations in morphology of elastic fibers among skin samples from individuals with CL suggest that the biochemical basis of the disorder may be heterogeneous. Indeed, it is possible that CL could result from mutations that affect synthesis, stabilization, or degradation of elastic fibers.


. Skin

. Gastrointestinal tract

. Pulmonary

. Cardiovascular

. Skeletal


KNOWN MUTATIONS (1st July 2017)


Underlying cause of CL is unknown and probably variable. Most hypotheses suggest possible mechanisms for reduction of elastic fibers in CL. Those most often reported in literature are the following :


Other Problems to be considered


- Although there are no routine laboratory findings in CL, CBC may reveal normochromic, normocytic anemia, while total protein and beta-2 microglobuline may be elevated.

- Additionally, serum protein electrophoresis and quantitative immunoglobulins can be performed to assess for myeloma.

- Direct immunofluorescencestudies for IgG, IgA, IgM, C3, C1q, and fibrin may be performed to assess for related conditions such as lupus erythematosus.

- Serum copper, zinc, ceruloplasmin, alpha-1 antitrypsin and ANA levels can be measured.

- Serum and urine elastin peptide levels may be elevated.


Skin biopsy, Echocardiogram, Pulmonary function tests, Bone Marrow biopsy.


There is no specific histologic abnormality seen on routine stains with hematoxylin and eosin. On elastic fibers stains, all types of CL show a reduction in number of elastic fibers throughout dermis, with remaining fibers being shortened, clumped, granular, or fragmented. In severe cases, no elastic fibers may be present but only fine, dustlike particles scattered throughout the dermis can be seen. In cases preceded by inflammatory eruption such as urticaria or vesicles, inflammatory infiltrate may be mononuclear (lymphocytes and histiocytes) or mixed, containing neutrophils. When vesicles are present, they are subepidermal, with papillary collections of neutrophils and eosinophils mimicking dermatitis herpetiformis.

Involved visceral organs show granular changes in elastic fibers similar to those seen in skin. Collagen abnormalities have also been described but are ultrastructurally nonspecific.

Electron microscopic examination reveals degenerative change in elastic fibers, which are variable from case to case. However, the most significant finding is presence of electron-dense amorphous or granular aggregates that are irregularly distributed in vicinity of elastic fibers.



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Version 2.06 - Last update : 1st July 2017