Cutis laxa

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Other Names:

Generalized elastolysis

Subtypes:

Cutis laxa, autosomal dominant; Cutis laxa, autosomal recessive type 1; Cutis laxa, autosomal recessive type 2A; Cutis laxa, autosomal dominant; Cutis laxa, autosomal recessive type 1; Cutis laxa, autosomal recessive type 2A; Cutis laxa, autosomal recessive type 2B; De Barsy syndrome; Geroderma osteodysplastica; Occipital horn syndrome See More

Summary Summary

Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy. The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. Depending on which organs and tissues are affected, the signs and symptoms can range from mild to life-threatening.^[1] It may be acquired or inherited. The different forms of inherited cutis laxa are distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms tend to be more severe than the autosomal dominant form. The X-linked form of cutis laxa is often called occipital horn syndrome.^[1]^[2]

Last updated: 4/1/2016

Symptoms Symptoms

The signs and symptoms of cutis laxa vary depending on the specific type the person has. Cutis laxa can be acquired or inherited. The inherited types are classified by their inheritance pattern. The recessive types are usually more severe than the dominant types. X-linked cutis laxa is known as occipital horn syndrome. You can learn more about the inherited types by visiting the links below.^[3]^[2]

Autosomal dominant cutis laxa

Autosomal recessive cutis laxa
- Autosomal recessive cutis laxa type 1
  - Autosomal recessive cutis laxa type 1A
  - Autosomal recessive cutis laxa type 1B
- Autosomal recessive cutis laxa type 2
  - Autosomal recessive cutis laxa type 2A
  - Autosomal recessive cutis laxa type 2B
- De Barsy syndrome (also known as AR cutis laxa type 3, subdivided in type A and type B, according to the mutated gene)
- Geroderma osteodysplasticum

Occipital horn syndrome (inheritance is X-linked)

Last updated: 4/1/2016

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
Abnormality of retinal pigmentation		0007703
Aplasia/Hypoplasia of the abdominal wall musculature	Absent/small abdominal wall muscles Absent/underdeveloped abdominal wall muscles [ more ]	0010318
Bowel diverticulosis		0005222
Esophageal diverticulum		0100628
Excessive wrinkled skin		0007392
Inguinal hernia		0000023
Lack of skin elasticity		0100679
Patent ductus arteriosus		0001643
Redundant skin	Loose redundant skin Redundant skin folds Sagging, redundant skin [ more ]	0001582
Short stature	Decreased body height Small stature [ more ]	0004322
30%-79% of people have these symptoms
Abnormal palate morphology	Abnormality of the palate Abnormality of the roof of the mouth [ more ]	0000174
Abnormality of the hip bone	Abnormality of the hips	0003272
Aplasia/Hypoplasia of the tongue		0010295
Bowel incontinence	Loss of bowel control	0002607
Bronchiectasis	Permanent enlargement of the airways of the lungs	0002110
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Ectopic anus	Abnormal anus position	0004397
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Genital hernia		0100823
Global developmental delay		0001263
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hydroureter		0000072
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Joint dislocation	Joint dislocations Recurrent joint dislocations [ more ]	0001373
Large fontanelles	Wide fontanelles	0000239
Long philtrum		0000343
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Malabsorption	Intestinal malabsorption	0002024
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Muscle weakness	Muscular weakness	0001324
Muscular hypotonia	Low or weak muscle tone	0001252
Narrow mouth	Small mouth	0000160
Pectus excavatum	Funnel chest	0000767
Plagiocephaly	Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ]	0001357
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Ptosis	Drooping upper eyelid	0000508
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Recurrent urinary tract infections	Frequent urinary tract infections Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent [ more ]	0000010
Scoliosis		0002650
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Telecanthus	Corners of eye widely separated	0000506
Thickened nuchal skin fold	Thickened skin folds of neck Thickened skin over the neck [ more ]	0000474
Turricephaly	Tall shaped skull Tower skull shape [ more ]	0000262
Vesicoureteral reflux		0000076
5%-29% of people have these symptoms
Abnormal blistering of the skin	Blistering, generalized Blisters [ more ]	0008066
Abnormal heart valve morphology		0001654
Abnormality of metabolism/homeostasis	Laboratory abnormality Metabolism abnormality [ more ]	0001939
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Aortic valve stenosis	Narrowing of aortic valve	0001650
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Cachexia	Wasting syndrome	0004326
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Craniosynostosis		0001363
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Eczema		0000964
Emphysema		0002097
Erythema		0010783
Exostoses	Formation of new noncancerous bone on top of existing bone	0100777
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypothyroidism	Underactive thyroid	0000821
Leukocytosis	Elevated white blood count High white blood count Increased blood leukocyte number [ more ]	0001974
Macular coloboma		0001116
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Pectus carinatum	Pigeon chest	0000768
Respiratory insufficiency	Respiratory impairment	0002093
Short neck	Decreased length of neck	0000470
Urticaria	Hives	0001025
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629

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

Last updated: 1/1/2021

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

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The main differential diagnosis is the Ehlers-Danlos syndromes (see these terms) but similar skin manifestations may also occur in patients with Williams syndrome, pseudoxanthoma elasticum, Hutchinson Gilford syndrome, Barber Say syndrome, Costello syndrome, Cardio-Facio-Cutaneous syndrome and Kabuki syndrome (see these terms). Inherited forms of CL should also be distinguished from acquired CL which is commonly preceded by urticaria, angioedema, local or generalized inflammatory skin disease or drug hypersensitivity reactions. Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

The main differential diagnosis is the Ehlers-Danlos syndromes (see these terms) but similar skin manifestations may also occur in patients with Williams syndrome, pseudoxanthoma elasticum, Hutchinson Gilford syndrome, Barber Say syndrome, Costello syndrome, Cardio-Facio-Cutaneous syndrome and Kabuki syndrome (see these terms). Inherited forms of CL should also be distinguished from acquired CL which is commonly preceded by urticaria, angioedema, local or generalized inflammatory skin disease or drug hypersensitivity reactions.

Visit the Orphanet disease page for more information.

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

ClinicalTrials.gov lists trials that are related to Cutis laxa. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Cutis Laxa Internationale
138 impasse de Champs Gervais
FR-74890 Bons en Chablais
France
Telephone: +33 (0)4 56 30 74 43
E-mail: mcjlboiteux@aol.com
Website: http://www.cutislaxa.org/

Social Networking Websites

Visit the Cutis Laxa Internationale group on Facebook.

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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

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
Genetics Home Reference (GHR) contains information on Cutis laxa. This website is maintained by the National Library of Medicine.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Cutis laxa. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Cutis laxa. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/cutis-laxa.
Goyal M, Singh A, Kornak U & Kapoor S. The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity. Indian J Dermatol. September - October 2015; 60(5):521.
US National Library of Medicine. Cutis laxa. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/cutis-laxa.

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