Cutis laxa, autosomal dominant

Title

Other Names:

ADCL; Autosomal dominant cutis laxa

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases; Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases; Skin Diseases See More

This disease is grouped under:

Cutis laxa

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 90348

Definition

A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

Epidemiology

The prevalence of ADCL is unknown but less than 50 cases have been reported in the literature so far.

Clinical description

Patients are usually diagnosed at birth or in early childhood due to the presence of excessive skin folds and loose, redundant skin. ADCL is considered to be a mild form of cutis laxa with limited systemic involvement although associated features may include hernias, cardiac valve anomalies (redundant mitral and tricuspid valves), cardiovascular manifestations (pulmonary stenosis and aortic and arterial dilatation and tortuosity), gastrointestinal diverticuli and emphysema.

Etiology

ADCL is genetically heterogeneous: mutations in the elastin gene (ELN; 7q11.1-q21.1) have been reported in some cases, whereas mutations in the gene encoding fibulin-5 (FBLN5; 14q31) have been identified in others. Homozygous mutations in the FBLN5 are associated with the more severe form of CL with extensive systemic involvement, autosomal recessive CL type 1 (ARCL1; see this term).

Diagnostic methods

Diagnosis is based on clinical examination, family history and pathognomonic histological findings (sparse, fragmented elastic fibers) on skin biopsies. Molecular testing may allow confirmation of the diagnosis.

Differential diagnosis

The differential diagnosis may include other forms of CL (ARC1 and ARCL2, and X-linked CL) and related syndromes (gerodermia osteodysplastica, wrinkly skin syndrome and De Barsy syndrome), together with the Ehlers-Danlos syndromes, Cantu syndrome and Costello syndrome (see these terms).

Genetic counseling

Genetic counseling should be provided to affected families and prenatal diagnosis may be feasible for families in which the disease-causing mutation has been identified.

Management and treatment

There is no specific treatment for cutis laxa. Management should include symptomatic treatment of any associated manifestations. ADCL is generally a mild cutaneous disease and internal organ involvement is rare.

Prognosis

Most patients have a good prognosis and life expectancy is usually normal.

Visit the Orphanet disease page for more resources.

Last updated: 1/1/2011

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Premature skin wrinkling		0100678
Redundant skin	Loose redundant skin Redundant skin folds Sagging, redundant skin [ more ]	0001582
30%-79% of people have these symptoms
Bowel diverticulosis		0005222
Full cheeks	Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ]	0000293
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Joint hyperflexibility	Joints move beyond expected range of motion	0005692
5%-29% of people have these symptoms
Abnormal heart valve morphology		0001654
Aortic aneurysm	Bulge in wall of large artery that carries blood away from heart	0004942
Emphysema		0002097
Inguinal hernia		0000023
Pulmonic stenosis	Narrowing of pulmonic valve	0001642
Umbilical hernia		0001537
Percent of people who have these symptoms is not available through HPO
Abnormality of the face	Abnormal face Facial abnormality [ more ]	0000271
Aortic regurgitation		0001659
Autosomal dominant inheritance		0000006
Mitral regurgitation		0001653
Prematurely aged appearance	Precociously senile appearance	0007495
Progeroid facial appearance	Premature aged appearance	0005328

Showing of 18 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/1/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Cutis Laxa Research Study
University of Pittsburgh
Dept. of Human Genetics
A300 Crabtree Hall, GSPH
130 De Soto Street
Pittsburgh, PA 15261
Telephone: 412-383-7369
E-mail: cutislax@pitt.edu
Website: http://www.cutislaxa.pitt.edu
The Cutis Laxa Research Study is an ongoing project coordinated by the University of Pittsburgh. Their research focuses on identifying the genetic causes of cutis laxa in an effort to better understand the effect of gene mutations and develop new treatments. Use the provided contact information to learn more.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Cutis laxa, autosomal dominant. This website is maintained by the National Library of Medicine.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

News & Events News & Events

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