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

Discussion The index patient presented with seizures and generalized hypotonia. [journals.lww.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]

Table 1 summarizes the presenting features. Consanguinity Delayed speech with poor language development Hypertelorism Depressed flat nasal bridge High palate Cutis laxa Small atrial septal defect Table 1: Presenting features. [medical-case-reports.imedpub.com]

• Arachnodactyly

  We observed cutis laxa, arachnodactyly, clinodactyly, camptodactyly, clubfoot, and micrognathia (Fig. 1E). [karger.com]

  Congenital contractural arachnodactyly (Beals syndrome). J Med Genet 1994; 31:640–643. CrossRef PubMed CAS Google Scholar Callewaert BL, Loeys BL, Ficcadenti A et al. [link.springer.com]

  Joint laxity and arachnodactyly, a condition in which the fingers and toes are abnormally long, thin and curved, are common findings. [rarediseases.org]

• Cough

  Some individuals with EFEMP2-related cutis laxa develop pulmonary emphysema, a chronic lung disease in which the tiny air sacs in the lungs (alveoli) are damaged or do not function properly, resulting in shortness of breath and a chronic cough. [rarediseases.org]

• Sparse Hair

  Additional symptoms include: short stature sparse hair cutis laxa Acquired Cutis Laxa Some people have symptoms, but don’t have the genetic changes associated with cutis laxa. This type of cutis laxa is known as acquired cutis laxa. [healthline.com]

  This function could explain the weak overlap between MACS syndrome and Costello syndrome (sparse hair, prominent lips, cutis laxa)(see below). [link.springer.com]

  Skin disease showed a continuous improvement (Figure 1j and k), but at the age of 16 years she still has sparse, brittle hair and developed myopia (Figure 1j and k). [nature.com]

• Eruptions

  The relationship between acquired cutis laxa and urticaria-like eruption is still not clear. [aacijournal.biomedcentral.com]

  It may occur spontaneously or in 50% of cases develop following episodes of urticaria or angioedema, extensive inflammatory skin disease (e.g. eczema, erythema multiforme, blistering eruption), or hypersensitivity reactions to penicillin or other drugs [dermnetnz.org]

  such as urticaria, eczema, erythema multiforme, or vesicular eruption, as well as reactions to penicillin or other drugs. [17] Patients with Wilson disease are at particular risk because of the elastolytic effects caused by long-term, high doses of [emedicine.medscape.com]

• Hip Dislocation

  dislocation in a male. 57 Philip AG 565809 1978 22 Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip. 57 Reisner SH...Ben-Bassat M 5579863 1971 23 Novel retinal findings in a patient with Autosomal [malacards.org]

  dislocation and characteristic facies, is described. [onlinelibrary.wiley.com]

  Other features seen include growth retardation, flat feet, delayed closure of the anterior fontanel, a typical facial appearance with down-slanting palpebral fissures, and bilateral congenital dislocation of hips are also common. [cags.org.ae]

  Hypotonia and congenital hip dislocation are also found in all three conditions, but the severity and frequency of these findings varies. [mdpi.com]

  […] birth Emphysema early in life Type II Growth retardation Usually present at birth Severe over hands, feet and abdomen Bilateral congenital dislocation of hips The features of acquired cutis laxa are mainly loose skin, especially in areas of previous [dermnetnz.org]

• Osteoporosis

  Osteoporosis may also present, resulting in fragile bones that are prone to fracture. More severe complications such as cardiovascular or pulmonary symptoms rarely develop. [rarediseases.org]

  It is characterized by lax, wrinkled skin, joint hyperlaxity, progeroid facial appearance, severe osteoporosis, malar and mandibular hypoplasia and growth retardation. [link.springer.com]

  [4] Gerodermia osteodysplasticum is an autosomal recessive disorder attributed to mutations in GORAB (SCYL1BP1). [8] This condition occurs in infants and young children and is characterized by loose skin, micrognathia, hip dysplasia, dwarfism, and osteoporosis [emedicine.medscape.com]

  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]

  Some patients also demonstrate lipodystrophy, osteoporosis/osteopenia, and blue sclera. [mdpi.com]

• Strabismus

  ATP6V1E1 ATP6V0A2 View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Autosomal Recessive Cutis Laxa Type 2, Classic Type Seizures Global developmental delay Short stature Hypertelorism Failure to thrive Strabismus [mendelian.co]

  Growth Other: failure to thrive intrauterine growth retardation (iugr) Neurologic Central Nervous System: hypotonia dandy-walker malformation polymicrogyria seizures delayed motor development more Head And Neck Head: microcephaly Head And Neck Eyes: strabismus [malacards.org]

  Ophthalmologic evaluation showed a strabismus in patients 2, 3, 5 and 6, myopia (<−5 diopters) was found in patients 1 and 6, amblyopia with hypermetropia in patient 4 and hypermetropia in patient 7. [nature.com]

  The ARCL2A patients demonstrate frontal bossing, large open fontanels, reverse V eyebrows, downslanting palpebral fissures, strabismus, a long philtrum and sagging cheeks with anteverted nares. [mdpi.com]

  […] syndrome, it has been proposed that these two conditions represent the same disorder.[5] Morava et al. reported phenotypic features of 10 children with ARCL II who had associated glycosylation defects.[1] Additional features found in their series were strabismus [journals.lww.com]

• Large Fontanel

  UniProtKB/Swiss-Prot : 72 Cutis laxa, autosomal recessive, 2D: A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures [malacards.org]

  fontanels, congenital hip dislocation and characteristic facies, is described. [onlinelibrary.wiley.com]

  Progressive microcephaly is quite unique in view of the finding of a large and persistent open fontanel. Congenital central nervous system anomalies are found only in the minority of the patients. [nature.com]

  Severe hypotonia, increased joint laxity, broad hands and feet, wide anterior fontanelle, and cutis laxa were noted in the neonatal period. Left hip dislocation and ulnar deviation of hands were also noted. [jmg.bmj.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]

• Atelectasis

  Postmortem features included cutis laxa, hypoplastic right diaphragm, arterial tortuosity, small lungs with atelectasis, hypertelorism, and multiple fractures. [karger.com]

  Affected individuals may develop severe breathing difficulties (respiratory distress) associated with cystic changes in the lungs as well as collapse of part of the lung (atelectasis). [rarediseases.org]

In summary, we recommend systematic and sequential treatment based on plastic surgery for the treatment of CCL. [frontiersin.org]

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]

After treatment, she was much more cooperative and accepted taking photos without any resistant. [medical-case-reports.imedpub.com]

Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Unfortunately, treatment options are very limited and mostly symptomatic. [link.springer.com]

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

As a rule, the autosomal dominant form of cutis laxa has primarily skin involvement with few systemic complications and normal life expectancy and is thus largely a cosmetic problem with a good prognosis. [ijdvl.com]

Type I AR CL is characterised by early infantile pulmonary emphysema, hernias, multiple diverticulae, and a poor prognosis.5 Recently, fibulin 5 mutations have been reported in Turkish patients with CL AR type I and supravalvular aortic stenosis.6 Type [jmg.bmj.com]

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

Although P5CS and PYCR1 defects are located in the same pathway, patients with PYCR1 mutations are less severely affected and have a better prognosis due to the absence of neurological involvement. [link.springer.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 Cutis laxa (elastolysis) is rare. Congenital forms of cutis laxa are more common than acquired disease. The recessively inherited form is most frequent and most severe. Autosomal dominant forms also exist. [emedicine.medscape.com]

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 2005; 42:881–892. CrossRef PubMed CAS Google Scholar Le Boulanger G, Labreze C, Croue A et al. G. [link.springer.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]

In case of congenital cutis laxa, no treatment exists to prevent disease progression. Medical treatment is useful to control infection, to reduce morbidity and to prevent complications. [ijdvl.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]

Acquired cutis laxa type II, also called Marshall syndrome, has been reported as secondary to Sweet syndrome (acute febrile neutrophilic dermatosis) in a child. [11] Treatment No treatment exists to prevent disease progression, although dapsone can be [emedicine.medscape.com]