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

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

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

We present a ten months boy of autosomal recessive cutis laxa type 1 with pulmonary involvement. Keywords: cutis laxa, recessive, sagging skin, type 1. [jmscr.igmpublication.org]

• Arachnodactyly

  Arachnodactyly, bone fragility, vascular tortuosity and aortic aneurysms are common findings in patients carrying EFEMP2 mutations. [rarediseases.info.nih.gov]

• Recurrent Infection

  Genitourinary tract diverticuli lead to vesicoureteral reflux and recurrent infections. [rarediseases.info.nih.gov]

• Malaise

  Systemic manifestations, such as fever, malaise, and leukocytosis, often accompany the inflammation. The cutaneous laxity that follows is limited to areas of previous inflammation. [emedicine.medscape.com]

• Stridor

  Child also had stridor and indirect laryngoscopy suggested laryngomalacia. The child was born of a second-degree consanguineous marriage at 33 weeks gestation with birth weight of 1.1 kg. [idoj.in]

• Heart Failure

  Common vascular anomalies include arterial aneurysms, fibromuscular artery dysplasia and stenosis leading to progressive heart failure. Genitourinary tract diverticuli lead to vesicoureteral reflux and recurrent infections. [rarediseases.info.nih.gov]

• Hyperkeratosis

  Skin biopsy showed mild hyperkeratosis and mild mononuclear inflammatory infiltrates in the papillary dermis, small and diminished elastic fibres, and deficient elastin with globular appearance [Figure 2]a and [Figure 2]b. [idoj.in]

• Hip Dislocation

  Less frequent findings include late closure of the fontanel, joint laxity, hip dislocation, inguinal hernia, arachnodactyly, bone fragility, vascular tortuosity and aortic aneurysm. Intelligence is normal. [rarediseases.info.nih.gov]

• Arthritis

  pyoderma gangrenosum and acne Pyogenic arthritis, pyoderma gangrenosum and acne 602,60€ Add to cart Arthrogryposis, distal, type 2A Arthrogryposis, distal, type 2A 621,00€ Add to cart Arthrogryposis, distal, type 2B Arthrogryposis, distal, type 2B 987,85 [bioarray.es]

• 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]

  It presents with characteristic facial features with loose skin and systemic involvement such as gastrointestinal diverticula, herniae, uterine prolapse, and aortic dilatations.[2],[4] Autosomal recessive cutis laxa (ARCL) is the most severe form of CL [ijpd.in]

  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]

• Large Fontanel

  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]

• Suggestibility

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  Two-dimensional echocardiography showed dilated right atrium and ventricle suggestive of primary pulmonary hypertension. [journals.lww.com]

  Genetic and biochemical evidence suggests that TGF-β‎ regulation and elastic fiber organization are separable functions of LTBP4. Access to the complete content on Oxford Medicine Online requires a subscription or purchase. [oxfordmedicine.com]

  Child also had stridor and indirect laryngoscopy suggested laryngomalacia. The child was born of a second-degree consanguineous marriage at 33 weeks gestation with birth weight of 1.1 kg. [idoj.in]

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]

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 [rarediseases.info.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. [rarediseases.info.nih.gov]

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]

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 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]

An interaction between the LTBP4 N-terminal region and plasma fibronectin has previously been observed using solid phase binding assays and deletion of the N-terminal region prevented interaction with fibronectin (Kantola et al., 2008). [frontiersin.org]