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

ARCL-1 presents at birth with cutaneous manifestations affecting whole body. [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]

The determination of which form of cutis laxa is present is aided by information about the associated symptoms and by family histories. Treatment There is no effective cure for any of these disorders. [medical-dictionary.thefreedictionary.com]

The book presents detailed information for both basic scientists and for clinicians seeing patients. [books.google.com]

• Inguinal Hernia

  hernia, cardiopulmonary disease, and emphysema). [panafrican-med-journal.com]

  Inguinal hernia had been successfully operated and torticolis was partially corrected [Figure 4]. [e-ijd.org]

  Inguinal hernia MedGen UID: 6817 •Concept ID: C0019294 • Finding Protrusion of the contents of the abdominal cavity through the inguinal canal. [ncbi.nlm.nih.gov]

  Aortic dilation, inguinal hernias, and pulmonary emphysema are other common findings. [ctgt.net]

  Congestive heart failure ; Delayed cranial suture closure ; Emphysema ; Full cheeks ; Hypothyroidism ; Ileus ; Inguinal hernia ; Joint hyperflexibility ; Osteoporosis ; Premature skin wrinkling ; Ptosis ; Pulmonic stenosis ; Recurrent fractures ; Recurrent [mousephenotype.org]

• Easy Bruising

  Unlike other skin disorders, cutis laxa doesn’t cause easy bruising or scarring. People with cutis laxa also have internal problems, such as abdominal aortic aneurysm. A portion of the aorta enlarges or bulges in people with this condition. [healthline.com]

  Cardiovascular symptoms, including orthostatic hypotension, tortuous carotid arteries and easy bruising have been described in some of the patients as well. 9 X-linked cutis laxa syndrome is allelic to Menkes disease and is caused by mutations in the [nature.com]

• Prolapse

  It presents with characteristic facial features with loose skin and systemic involvement such as gastrointestinal diverticula, herniae, uterine prolapse, and aortic dilatations.[24] Autosomal recessive cutis laxa (ARCL) is the most severe form of CL. [journals.lww.com]

  Electrocardiography showed aortic dilatation, mitral valve prolapsed and sign of pulmonary arterial hypertension. Thoracic computed tomography revealed alveolar condensations and localizations of emphysema. [panafrican-med-journal.com]

  Choudhary SV et al. (2011) Congenital cutis laxa with rectal and uterovaginal prolapse. Ind J Derm Ven Lep 77(3): 321-324. Full text from publisher. [forgottendiseases.org]

  Surgical correction of redundant skin folds, prolapses, or hernias may be undertaken. However, surgery often produces only temporary benefit. [emedicine.medscape.com]

  Other manifestations included gastro-oesophageal reflux (F1:II-7 and F1:III-4), urogenital prolapse (F1:II-2), and a hoarse voice (F2:I-1, F2:II-1, F3:II-1, and F3:II-2). [ojrd.biomedcentral.com]

• Cutis Laxa

  Genetic DNA Test EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic DNA Test Cost 20000 Rs EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic DNA Test Details Frequently Asked Questions What is the cost of EFEMP2 Gene Cutis laxa [dnalabsindia.com]

  If the clinical phenomenon "cutis laxa" or rather "cutis laxa-like skin changes" is considered in terms of differential diagnosis, further hereditary as well as acquired clinical pictures have to be taken into account. [altmeyers.org]

  About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Cutis laxa, autosomal recessive, Cutis laxa, type 1 See more Don’t fight Cutis laxa, autosomal recessive type 1 alone. [rareguru.com]

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

• Skin Disease

  […] geneSkin Books about skin diseases: See the DermNet NZ bookstore [dermnetnz.org]

  Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities [csbg.cnb.csic.es]

  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]

  Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Buy book ISBN 0-7216-2921-0. [maria-online.com]

• Muscle Hypotonia

  Developmental delay can be observed in the majority of the children, partially due to muscle hypotonia and to some degree hyperflexible joints. [nature.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]

Management and treatment There are no effective therapeutic strategies available for ARCL1. Care should be multidisciplinary with symptomatic treatment of pulmonary emphysema, prophylactic therapy for infections and hernia repair. [rareguru.com]

Treatment for complications include surgical treatment for hernias, beta blockers to prevent growth of aortic aneurysms and symptomatic treatment for pulmonary complications like emphysema. [jemds.com]

[…] studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment [books.google.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]

Prognosis The disease course in ARCL1 is severe, with most patients dying in childhood from cardiac or respiratory failure. Visit the Orphanet disease page for more resources. [rareguru.com]

Prognosis The prognosis for cutis laxa varies with the form of the disorder. The effects may be relatively mild with individuals living a fairly normal, full life, or the disease may be fatal. [medical-dictionary.thefreedictionary.com]

Prognosis: prognosis varies with the type of disorder and largely depends on type and extent of others systemic and internal organ involvement. Figure 1: Right inguinal Hernia. Figure 2: Laxity of Skin. [jemds.com]

Prognosis The disease course in ARCL1 is severe, with most patients dying in childhood from cardiac or respiratory failure. Expert reviewer(s): M GUILLARD - Dr D.J. [Dirk] LEFEBER - Dr Eva MORAVA - Pr R.A. [orpha.net]

Prognosis The disease course in ARCL1 is severe, with most patients dying in childhood from cardiac or respiratory failure. Last updated: 1/1/2011 [rarediseases.info.nih.gov]

Etiology ARCL1 is genetically heterogeneous and, although the etiology remains unknown in the majority of cases, mutations have been identified in some patients in the FBLN5 (14q31) and EFEMP2 (11q13) genes, encoding the extracellular matrix proteins [rareguru.com]

Intelligence is normal.EtiologyARCL1 is genetically heterogeneous and, although the etiology remains unknown in the majority of cases, mutations have been identified in some patients in the FBLN5 (14q31) and EFEMP2 (11q13) genes, encoding the extracellular [malacards.org]

Hypotonia Inguinal hernia Joint hypermobility Microcephaly Micrognathia Pectus excavatum Prominence of the premaxilla Abnormality of the respiratory system Emphysema Ear malformation Abnormal pinna morphology Low-set ears Growth abnormality Overgrowth Etiology [ncbi.nlm.nih.gov]

Epidemiology The prevalence of ARCL1 is unknown but around 60 cases have been reported in the literature so far. Clinical description The skin manifestations affect the whole body and are usually recognizable from birth. [rareguru.com]

Summary Epidemiology The prevalence of ARCL1 is unknown but around 60 cases have been reported in the literature so far. Clinical description The skin manifestations affect the whole body and are usually recognizable from birth. [orpha.net]

[…] circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

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]

This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder. [books.google.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 WSS 2, 22 with a distinct phenotype showed loss-of-function mutations in the a2-subunit of the V-type H + -ATPase [nature.com]

Prevention The inherited forms of cutis laxa are genetically determined and are not currently preventable. Genetic counseling can be helpful for anyone with a family history of cutis laxa. [medical-dictionary.thefreedictionary.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]

Mutations in this gene prevent the body's cells from obtaining enough copper, which is necessary for the proper function of enzymes within many cell types, including bone, skin, and hair, as well as cells that comprise blood vessels and the nervous system [cutislaxa.pitt.edu]

Treatment for complications include surgical treatment for hernias, beta blockers to prevent growth of aortic aneurysms and symptomatic treatment for pulmonary complications like emphysema. [jemds.com]