Written by: Lucky Annem
Medically reviewed by: Dr. Lohi Pratti
Elastoderma, also known as elastolysis, is a rare skin disorder characterized by the excessive degradation of elastin fibers, a vital component of the skin's elasticity and resilience. This condition manifests as loose, sagging skin with a crepe-paper-like texture. Elastoderma can have a significant impact on the physical appearance, self-esteem, and overall quality of life of affected individuals. Understanding the causes, effects, treatment options, and prognosis of elastoderma is essential for accurate diagnosis and effective management.
The cause of acquired cutis laxa is largely unknown, though various hypotheses, such as altered copper metabolism, excess elastase, and immune-mediated mechanisms have been proposed. Some other prominent hypothesized causes are genetic predisposition, excessive sun exposure, connective tissue disorders, and certain systemic diseases. Each of these factors/causes can contribute to the accelerated degradation of elastin fibers. Genetic mutations can affect elastin synthesis or regulation, leading to elastoderma. Genetic abnormalities can disrupt the balance between elastin production and degradation, leading to an excess of degrading enzymes such as matrix metalloproteinases (MMPs) and elastases. These enzymes play a crucial role in breaking down elastin fibers.. Environmental factors, particularly chronic sun exposure, can exacerbate elastoderma development. Ultraviolet (UV) radiation triggers the production of reactive oxygen species (ROS) in the skin. ROS activate MMPs and elastases, promoting elastin degradation. In addition, UV radiation leads to DNA damage in skin cells, impairing their ability to synthesize and maintain elastin fibers. Connective tissue disorders, such as Ehlers-Danlos syndrome, Marfan syndrome, and pseudoxanthoma elasticum, are also associated with elastoderma. These conditions are characterized by inherent abnormalities in elastin production or metabolism. Mutations in genes encoding proteins involved in elastin assembly, cross-linking, or maintenance disrupt elastin fiber integrity, making the skin more susceptible to degradation. Certain systemic diseases, including autoimmune disorders and chronic inflammatory conditions, can contribute to elastoderma. In these conditions, the immune system becomes dysregulated, leading to chronic inflammation and increased production of inflammatory mediators. This chronic inflammation stimulates the production of MMPs and elastases, accelerating elastin degradation and contributing to elastoderma development.
The effects of elastoderma extend beyond the physical appearance of loose, wrinkled skin. Acquired cutis laxa ( progressive loosening of skin) usually begins in adulthood with the insidious development of loose skin often starting at face and neck. Individuals with elastoderma may experience decreased skin elasticity, increased skin fragility, and a higher risk of skin tears and ulcers. Functional impairment, such as limited joint mobility and muscle weakness, can occur in severe cases. The psychosocial impact of elastoderma should not be overlooked, as it can lead to psychological distress, social isolation, and reduced self-confidence.
Although there is no definitive cure for elastoderma, several treatment modalities aim to manage its symptoms and improve the skin's appearance. Topical retinoids and alpha-hydroxy acids may be used to enhance skin thickness and stimulate collagen production. Dermabrasion and laser resurfacing techniques can help smoothen the skin surface. In severe cases, surgical procedures such as skin tightening, excision of excess skin, and autologous tissue grafting may be considered to achieve better cosmetic outcomes.
The prognosis for elastoderma varies depending on the underlying cause, severity of symptoms, and treatment response. In some cases, elastoderma may stabilize or improve with appropriate management. However, the long-term prognosis can be challenging to predict, especially in individuals with associated connective tissue disorders or systemic diseases. One treatment option is the injection of botulinum toxin. Some studies have looked at vitamin E supplementation as a way to manage elastoderma, but there are varied results. Management can also involve specific skin care products and ingredients, like the topical application of emollients. Regular monitoring by dermatologists and multidisciplinary collaboration with other specialists, such as geneticists and rheumatologists, can help optimize the management and long-term care of individuals with elastoderma.
Elastoderma is a complex and rare skin disorder characterized by the degradation of elastin fibers, leading to loose and sagging skin. The underlying causes involve genetic, environmental, and systemic factors, with multiple pathways contributing to elastin fiber degradation. The condition can have significant physical and psychosocial effects on affected individuals. While there is no definitive cure, various treatment options aim to manage symptoms and improve skin appearance. The prognosis varies depending on the individual case, and multidisciplinary care is crucial for optimizing outcomes. Further research is needed to enhance our understanding of elastoderma's pathogenesis, develop targeted therapies, and improve the overall quality of life for those living with this challenging condition.
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References:
Anne, et al. “Elastoderma: An Uncommon Cause of Acquired Hyperextensible Skin.” ResearchGate, Society for Publication of Acta Dermato-Venereologica, Feb. 2012, www.researchgate.net/publication/221795081_Elastoderma_An_Uncommon_Cause_of_Acquired_Hyperextensible_Skin. Accessed 25 May 2023
“Elastoderma - about the Disease - Genetic and Rare Diseases Information Center.” Nih.gov, 2023, rarediseases.info.nih.gov/diseases/12716/elastoderma/. Accessed 24 May 2023.
“Elastoderma Disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials.” Malacards.org, 2022, www.malacards.org/card/elastoderma. Accessed 25 May 2023.
“Elastoderma.” DoveMed, 2021, www.dovemed.com/diseases-conditions/elastoderma/. Accessed 25 May 2023.
“GARD Rare Disease Information - Elastoderma - National Organization for Rare Disorders.” National Organization for Rare Disorders, 16 June 2022, rarediseases.org/gard-rare-disease/elastoderma/. Accessed 24 May 2023.
Mitra S, Agarwal AK, Das JK, Gangopadhyay A. Cutis laxa: A report of two
interesting cases. Indian J Dermatol 2013;58:328
Vieira, Ricardo, et al. Elastoderma of the Neck in a Teenage Boy. Aug. 2005, https://doi.org/10.1016/j.jaad.2005.01.005. Accessed 25 May 2023.
Yen, Angela, et al. Elastoderma. no. 2, Aug. 1995, pp. 389–92, https://doi.org/10.1016/0190-9622(95)91442-0. Accessed 24 May 2023.
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