cutis laxa

Overview

What is cutis laxa?

Cutis laxa are a group of genetic disorders that affect the body tissues that join and support other parts(connective tissues) in the body. Connective tissues provide support to skin, muscles, joints, and other organs. There are several different types of cutis laxa depending on which gene a pathogenic variant(s) is identified. Autosomal recessive forms of cutis laxa include types IA, IB, IC, IIA, IIB, IIIA and IIIB. Autosomal dominant forms of cutis laxa include type 1, 2, and 3.

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Are there other names for cutis laxa?

How many people have cutis laxa?

What is the usual abbreviation for cutis laxa?

How are the different types of cutis laxa separated?

What are the different subtypes of cutis laxa?

What is EFENP2-Related cutis laxa?

What is FLBN5-Related cutis laxa?

What is LTBP4-Related cutis laxa?

What is ATP6V0A2-Related cutis laxa?

What is ELN-Related cutis laxa?

What is PYCR1-Related cutis laxa?

What is ALDH18A1 cutis laxa?

What is Geroderma Osteodysplasticum?

What is RIN2-Related cutis laxa?

What is Acquired cutis laxa?

What is X-Linked cutis laxa?

Are there other names for cutis laxa?

Other names for cutis laxa include dermatolysis, dermatomegaly, and elastolysis. There are also several types of cutis laxa, X-linked cutis laxa is also known as occipital horn syndrome, and autosomal recessive type 3 cutis laxa is specifically known as De Barsy syndrome.

How many people have cutis laxa?

Cutis laxa is a rare disorder, and it is estimated that 1 in 4 million have cutis laxa. Other sources indicate that it is closer to 1 in 1 million people that have cutis laxa, but since it is so rare, there is also the possibility for it to be misdiagnosed.

What is the usual abbreviation for cutis laxa?

Cutis laxa may be abbreviated as CL.

How are the different types of cutis laxa separated?

The different subtypes are classified based on the molecular make- up of the disease. The molecular make-up of a disease is the exact type of change in the gene that happened to cause a disease. Before molecular classification, the different types were classified based on symptoms.

What are the different subtypes of cutis laxa?

The different subtypes are:

  • EFENP2-Related cutis laxa
  • FBLN5-Related cutis laxa
  • LTBP4-Related cutis laxa
  • ATP6V0A2-Related cutis laxa
  • PYCR1-Related cutis laxa
  • ALDH18A1-Related cutis laxa
  • ELN-Related cutis laxa
  • Geroderma Osteodysplasticum
  • RIN2-Related cutis laxa
  • Acquired cutis laxa
  • X-Linked cutis laxa
What is EFENP2-Related cutis laxa?

EFEMP2-related cutis laxa can also be called FBLN4-related cutis laxa or autosomal recessive cutis laxa type IB. This type of cutis laxa is notable for the finding of droopy skin, cardiovascular involvement and skeletal differences. Some of the facial features may include hypertelorism (eyes that appear to be far apart), malformed ears, a high arched palate, and retromicrognathia (small and receding jaw).

Skeletal findings can include arachnodactyly (long, thin and curved fingers and/or toes), pectus excavatum (a dip in the chest bone between the breasts), fragile bones, and joint laxity (in which the joints can overextend). Bones may be fragile at birth and lead to broken bones in the newborn period. Some patients are also born with hypotonia (low muscle tone) that can persist past the newborn period.

Emphysema (a chronic and often progressive form of lung disease in which the alveoli or air sacs in the lungs, over inflate and do not exchange oxygen efficiently) can develop. Some individuals with cutis laxa type IB have developed a diaphragmatic hernia in which the diaphragm (the muscle that helps the lungs to expand and contract) pushes on the lungs.

Cardiovascular complications can arise in this subtype of cutis laxa and include a risk for aortic aneurysms (an outpouching of the major blood vessel leading away from the heart), pulmonary artery aneurysms (an outpouching of the arteries in the lungs), arterial tortuosity (windy and twisty arteries), venous tortuosity (windy and twisty vessels), stenosis (narrowing) of the arteries, and vascular fragility. Because the vessels and arteries are more fragile, some patients are also at risk for brain hemorrhage.

EFEMP2-related cutis laxa can have different effects on different people. The symptoms may be severe and lead to life threatening complications in early life, or can only include craniofacial (head and face) abnormalities and vascular disease.

What is FLBN5-Related cutis laxa?

FLBN5-Related cutis laxa can also be called autosomal recessive cutis laxa type IA (ARCL1A).

The age at which an affected individual starts showing symptoms and the exact symptoms they may be showing can be variable. Individuals with FLBN5-related cutis laxa may have delayed motor development, growth deficiencies, the characteristic skin concerns that include loose and redundant skin with excessive skin folds, droopy eyelids (ptosis), and joint problems. There can also be systemic involvement that can include multiple other organ systems in the body.

The intestines, bladder, renal (kidneys) and abdominal wall can have weaknesses in the tissue resulting in hollow viscus diverticula (outpouching) within the tissue. Inguinal (abdominal wall) hernias can also arise and require surgical correction.

The vessels and arteries can be involved. This can include the entire vascular tree (the vessels and arteries in the entire body) and lead to the development of aneurysms (a bulging area of a blood vessel or artery) and vascular tortuosity (which gives the vessels the appearance that they are windy and twisted). The finding of abnormalities of the vascular tree can lead to serious and life threatening complications in early childhood or young adults. Children may also be born with supravalvular aortic stenosis or pulmonic artery stenosis, which are specific types of congenital heart defects that are present at birth. Supravalvular aortic stenosis is a birth defect that results in a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Pulmonic artery stenosis refers to narrowing of the arteries (blood vessels) that carry blood to the lungs.

Additional complications of this type of cutis laxa can include a risk for early-childhood onset emphysema (a long-term and progressive disease of the lungs that can cause shortness of breath due to the over-inflation of the alveoli or airs sacs in the lung). Emphysema may be seen as young as the neonatal (newborn) period. Some individuals have also reported recurrent lung infections, which can also lead to chronic and long-term lung disease or further complicate an underlying diagnosis of emphysema that requires specialized medical treatment. Early mortality can occur as the result of chronic and long term cardiorespiratory complications associated with this condition.

Intrafamilial variability exists, meaning that not every individual in the family with a diagnosis of cutis laxa type IA will develop the same symptoms or at the same age of onset.

What is LTBP4-Related cutis laxa?

LTBP4-Related cutis laxa can also be called Urban-Rifkin-Davis syndrome or autosomal recessive cutis laxa type 1C (ARCL1C). Symptoms of this type of cutis laxa include skin symptoms, joint laxity, muscle weakness, delays in growth, and systemic (other organs) involvement that can seriously affect the pulmonary, gastrointestinal, urinary and less severely the cardiovascular systems. The severe involvement of the different organ systems can lead to respiratory failure, accumulation of urine in the kidneys, twisting or enlargements of intestinal segments, or diverticulosis. Affected individuals may also have distinctive facial features and possible growth deficiencies.

What is ATP6V0A2-Related cutis laxa?

ATP6V0A2-Related cutis laxa can also be called autosomal recessive cutis laxa 2A (ARCL2A). It may additionally be classified using an umbrella term for rare metabolic disorders known as congenital disorder of glycosylation. This type of cutis laxa has variable symptoms ranging from mild to severe. The mild type may be known as wrinkly skin syndrome with mostly skin symptoms consisting of wrinkled, saggy, inelastic skin and mild developmental delay.

The severe form is known as as Debre-type cutis laxa with less severe skin symptoms, but severe neurological and developmental anomalies. Other symptoms include muscle weakness, feeding difficulties, myopia (nearsightedness), strabismus (cross-eyed), failure to thrive, growth deficiencies, and distinctive facial features. Additionally, neurological symptoms can include regression, congenital malformations of the brain, and possibly seizures between ages 8-12. Of note, some of the cardiovascular and pulmonary concerns that are common in other types of cutis laxa are not typically seen in patients with ATP6V0A2Related cutis laxa.

What is ELN-Related cutis laxa?

ELN-related cutis laxa can also be called autosomal dominant cutis laxa type 1 (ADCL1) or simply autosomal dominant cutis laxa. This form of cutis laxa has skin and systemic (other organs) involvement.

Skin symptoms are much milder and systemic involvement of the cardiovascular and pulmonary systems are much less common than in recessive forms. This may include aortic valve insufficiency or mitral valve regurgitation. Emphysema may be a medical concern that arises. Gastrointestinal anomalies are not common in ADCL1 and similarly to other types of cutis laxa, there are certain distinctive facial features.

What is PYCR1-Related cutis laxa?

PYCR1-related cutis laxa can also be called autosomal recessive cutis laxa 2B (ARCL2B). This kind of cutis laxa can have variable symptoms that may include skeletal involvement such as scoliosis, bowing of the arms and legs, clasped thumbs, abnormally long fingers and toes, reduced bone density, and fragile bones. They also have distinctive facial features, and experience growth delay, developmental delays, joint laxity, failure to thrive (difficulty gaining weight), and underdevelopment of certain parts of the brain.

What is ALDH18A1 cutis laxa?

ALDH18A1 cutis laxa can also be called autosomal dominant cutis Laxa type 3 (ARCL3). Individuals with this type of cutis laxa may present at birth with cataracts and clouding of their corneas of their eyes. Growth may be restricted in utero and this may persist after birth as well. Feeding difficulities in the newborn period may be present and also persist after infancy. The fontanels or soft spots in the skull may take longer to close and some patients may also develop an abnormal curvature to their spine (scoliosis). The joints are known to be hypermobilie or extra flexible. Infants may also be born with clubfeet, clenched thumbs, and/or dislocated hips.

Skin is loose and lax with a wrinkly appearance and may appear to be thin or transleucent. The vessels in the brain may have tortuosity, a term used to describe blood vessels that twist or appear twisted. Children and infants with this form of cutis laxa may also have low muscle tone (hypotonia) and developmental delays.

More rare manifestations of this form of cutis laxa include osteopenia, an absent or missing kidney at birth, aortic valve differences, and osteopenia.

What is Geroderma Osteodysplasticum?

Geroderma Osteodysplasticum can also be known as autosomal recessive cutis laxa type 2, gerodermia osteodysplastica, or Walt Disney dwarfism. In this type of cutis laxa, cardiovascular and pulmonary symptoms are rare. Individuals have skin symptoms that include loose skin on the hands, feet, stomach, and face. They also have specific facial features, joint laxity, and possibly osteoporosis causing fragile bones. It is usually infants and young children that are affected by this type of cutis laxa.

What is RIN2-Related cutis laxa?

RIN2-Related cutis laxa is also known as macrocephaly alopecia cutis laxa scoliosis or MACS syndrome and is extremely rare with only four known individuals with diagnoses. Some of the affected individuals that have been reported in the medical literature have had mild intellectual disability. All individuals have had distinctive facial features. Other symptoms include loose skin on face, dry scaly skin, macrocephaly (small head), and alopecia (hair loss). Joint laxity, scoliosis, and aortic dilation have also been reported.

What is Acquired cutis laxa?

Acquired cutis laxa is when someone has cutis laxa not due to a molecular reason (change in gene), but because of environmental factors such as medication, infections, or autoimmune diseases. It is usually seen in adults, and symptoms include skin findings of cutis laxa, which usually start in the face and spreads to other parts of the body. Systemic (other organs) involvement is also possible affecting vascular, gastrointestinal, and pulmonary systems.

What is X-Linked cutis laxa?

X-Linked cutis laxa can also be called Occipital Horn Syndrome. Some of the symptoms seen in X-linked cutis laxa include distinctive facial features, loose skin, scoliosis or kyphosis (abnormal spine curvature), loose joints, narrow chest, and brittle hair. Additional symptoms include involvement of the cardiovascular, gastrointestinal, genitourinary, and pulmonary systems. Individuals may have normal intelligence, or mild intellectual disability, and other neurological involvement such as dysautonomia (involuntary muscle contractions) may occur. Of note, individuals with this kind of cutis laxa have excess bone growth on their occipital bones, located above the neck in the back of the head, thus the name occipital horn.

References
  • http://rarediseases.org/rare-diseases/cutis-laxa/

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