It is characterised by skin that is loose, hanging, wrinkled, and lacking in elasticity. The loose skin can be either generalised or localised.[4] Biopsies have shown reduction and degeneration of dermal elastic fibres in the affected areas of skin.[5] 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 may be loose (
hypermobile) because of lax
ligaments and
tendons. When cutis laxa is severe, it can also affect the internal organs. The
lungs,
heart (supravalvular pulmonary stenosis),
intestines, or
arteries may be affected with a variety of severe impairments. In some cases,
hernias and outpouching of the bladder can be observed. Patients can also present with
whites of the eyes that are blue.[citation needed]
Cutis laxa may be caused by mutations in the genes:
ELN,[8]ATP6V0A2,[9]ATP7A,[10]FBLN4,[11]FBLN5,[12] and PYCR1.[13] A related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 (P5CS).[14] Cutis laxa may also be seen in association with inherited connective tissue disorders such as
Ehlers–Danlos syndromes. Another syndrome associated with cutis laxa is
Lenz-Majewski syndrome which is due to a mutation in the phosphatidylserine synthase 1 (
PTDSS1) gene. [citation needed]
In contrast, acquired cutis laxa often has a triggering event such as
urticaria, drugs (such as
penicillin) or
neoplasms.[15] Acquired cutis laxa may also be immunologically mediated, as it can involve dermal deposit of
immunoglobulins and it can occur with
autoimmune diseases.[5] Acquired cutis laxa has been associated with granular
immunoglobulin A deposits as well as abundant
neutrophils.[5] One hypothesis for the cause is excessive
elastase release from
neutrophils and
macrophages.[15] It has also been considered that mutations in
elastin (ELN) and
fibulin-5 (FBLN5) genes can increase susceptibility of elastic fibres to inflammatory degradation in acquired cutis laxa.[15]
This section is empty. You can help by
adding to it. (September 2021)
Treatment
As of 2019, there is no treatment for cutis laxa. Procedures aimed at mitigating symptoms and identifying subsequent conditions are often advised. No pharmacological agent has been able to stop the progression of the disease.[15] However, cosmetic surgeries are potentially an option as cutis laxa does not generally involve vascular fragility.[15]
^
abcdGarcía-Patos V, Pujol RM, Barnadas MA, Pérez M, Moreno A, Condomines J, et al. (July 1996). "Generalized acquired cutis laxa associated with coeliac disease: evidence of immunoglobulin A deposits on the dermal elastic fibres". The British Journal of Dermatology. 135 (1): 130–4.
doi:
10.1046/j.1365-2133.1996.d01-950.x.
PMID8776377.
S2CID38392112.
^Rongioletti F, Cutolo M, Bondavalli P, Rebora A (January 2002). "Acral localized acquired cutis laxa associated with rheumatoid arthritis". Journal of the American Academy of Dermatology. 46 (1): 128–30.
doi:
10.1067/mjd.2002.117394.
PMID11756959.
^Randle HW, Muller S (June 1983). "Generalized elastolysis associated with systemic lupus erythematosus". Journal of the American Academy of Dermatology. 8 (6): 869–73.
doi:
10.1016/S0190-9622(83)80019-X.
PMID6345611.
^Bouloc A, Godeau G, Zeller J, Wechsler J, Revuz J, Cosnes A (1999). "Increased fibroblast elastase activity in acquired cutis laxa". Dermatology. 198 (4): 346–50.
doi:
10.1159/000018146.
PMID10449932.
S2CID23679878.
Further reading
Van Maldergem L, Loeys B (2011-10-13).
FBLN5-Related Cutis Laxa. University of Washington, Seattle.
PMID20301756. NBK5201. In Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (1993). Pagon RA, Bird TD, Dolan CR, et al. (eds.).
GeneReviews [Internet]. Seattle WA: University of Washington, Seattle.
PMID20301295.