Novel Insights • The 2 related patients described here are the first prenatal presentations of ARCL1B. [karger.com]

The way in which the condition presents itself is different according to how it is inherited or acquired. Cutis laxa is also known as generalised elastolysis. [dermnetnz.org]

The infant presented in the above clinical case had novel homozygous mutation in PYCR1 gene which is likely pathogenic variant of autosomal recessive cutis laxa type 2B/3B [3]. PYCR1 gene helps in synthesis of proline from glutamate. [link.springer.com]

The index patient presented with seizures and generalized hypotonia. [idoj.in]

Clinical presentation and mode of inheritance show considerable heterogeneity; autosomal dominant, autosomal recessive, and X-linked recessive forms have been reported. [jamanetwork.com]

• High Arched Palate

  ATS features include elongation, tortuosity and aneurysms of major arteries, cutis laxa, joint laxity, hernias, long slender face, and high-arched palate. [karger.com]

• Scrotal Mass

  For ATS, only 1 case with antenatal signs (abnormal elongation of the pulmonary arteries, tortuous and elongated abdominal aorta, oligohydramnios, hypertelorism, and scrotal mass) has been suspected [Aslan et al., 2008]. [karger.com]

We suggest a simple and practical diagnostic approach for the workup of patients with a suspected autosomal recessive cutis laxa (Figure 5). [nature.com]

What is the treatment for cutis laxa? There is no specific treatment for cutis laxa or preventing the progression of the disease. Treatment is directed at managing any complications that may arise from associated internal organ involvement. [dermnetnz.org]

Treatments for cutis laxa depend on your symptoms. A team of specialists — including cardiologists, pulmonologists, dermatologists, and surgeons — may treat the condition. Cosmetic surgery can tighten skin that is loosened due to cutis laxa. [healthline.com]

The causes of acquired cutis laxa are unclear, although it may occur as a side effect of treatment with medications that remove copper from the body (copper chelating drugs). [medlineplus.gov]

Additional symptoms may eventually develop including dystonia, a group of movement disorders that vary in their symptoms, causes, progression, and treatments. [rarediseases.org]

[…] gammopathy following treatment of a nodal plasmacytoma. Arch Dermatol. 2011 Mar. 147(3):323-8. [Medline]. O'Malley JT, D'Agati VD, Sherman WH, Grossman ME. [emedicine.medscape.com]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Prognosis The lifespan of some patients with cutis laxa (elastolysis) may not be significantly decreased. Patients with the autosomal dominant form have a normal life expectancy. [emedicine.medscape.com]

The presence of the metabolic alteration has consequences both for organ involvement, prognosis assessment and counselling. [nature.com]

In cutis laxa patients mutations have been demonstrated in elastin or fibulin genes, but in the majority of patients the underlying genetic etiology remains unknown. [nature.com]

Epidemiology Frequency Cutis laxa (elastolysis) is rare. Congenital forms of cutis laxa (elastolysis) are more common than acquired disease. The recessively inherited form is most frequent and most severe. Autosomal dominant forms also exist. [emedicine.medscape.com]

Pathophysiology Cutis laxa (elastolysis) is characterized by degenerative changes in the elastic fibers resulting in loose, pendulous skin. The skin is sagging, redundant, and stretchable, with reduced elastic recoil. [emedicine.medscape.com]

Pathophysiological aspects in ARCL type II patients with a ATP6V0A2 defect As described above, a large number of families with ARCL type II or WSS2, 22 with a distinct phenotype showed loss-of-function mutations in the a2-subunit of the V-type H+-ATPase [nature.com]

You can’t prevent cutis laxa because it’s a genetic condition. Acquired cutis laxa can’t be prevented because doctors currently don’t know the exact cause of it. [healthline.com]

There is no specific treatment for cutis laxa or preventing the progression of the disease. Treatment is directed at managing any complications that may arise from associated internal organ involvement. [dermnetnz.org]

In addition, some subtypes of cutis laxa have only been reported in a handful of individuals, which prevents physicians from developing a complete picture of associated symptoms and prognosis. [rarediseases.org]

In the follow up, one should emphasize the importance of caloric intake, developmental assessment, physiotherapy and evaluation of possible osteoporosis to prevent frequent fractures in some of the ARCL II and GO patients. [nature.com]