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

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

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 specific symptoms present, severity and prognosis can vary greatly depending upon the specific type of cutis laxa and the presence and extent of associated symptoms. [rarediseases.org]

• Inguinal Hernia

  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]

• 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]

• 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]

• Hypertension

  Chest X-ray findings included emphysema, bronchopneumonia, and pulmonary hypertension. Ultrasonographic examination showed cystitis and bladder diverticula. Two-dimensional echocardiography showed primary pulmonary hypertension. [ijpd.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]

• Hyperextensible Joints

  Mutation in copper transporter gene ATP7A is seen, resulting in low-serum copper, and ceruloplasmin levels.[2],[4] Differential diagnosis includes Ehler's–Danlos syndrome in which there are hyperextensible joints with hyper mobility, but not lax skin. [ijpd.in]

• Prolapse

  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]

• Burning Micturition

  The patient had recurrent complaints of cough, fever, burning micturition, and difficulty in breathing. [ijpd.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. [rarediseases.info.nih.gov]

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]

[…] doi.org/10.1038/sj.ejhg.5201947 Keywords apolipoprotein C-III isofocusing autosomal recessive cutis laxa congenital defects of glycosylation O-glycosylation CDG type II x Further reading Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology [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 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]