Cantú syndrome is a rare condition characterized by
hypertrichosis
Hypertrichosis is an abnormal amount of hair growth over the body. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area. H ...
,
osteochondrodysplasia
Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro"). Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Non ...
, and
cardiomegaly
Cardiomegaly (sometimes megacardia or megalocardia) is a medical condition in which the heart is enlarged. As such, it is more commonly referred to simply as "having an enlarged heart". It is usually the result of underlying conditions that make t ...
.
[Initial posting 2014] Less than 50 cases have been described in the literature; they are associated with a mutation in the ''
ABCC9
ATP-binding cassette, sub-family C member 9 (ABCC9) also known as sulfonylurea receptor 2 (SUR2) is an ATP-binding cassette transporter that in humans is encoded by the ''ABCC9'' gene.
Function
The protein encoded by this gene is a member of ...
''-gene that codes for the ABCC9-protein.
[
]
Signs and symptoms
The main features of this condition are hypertrichosis
Hypertrichosis is an abnormal amount of hair growth over the body. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area. H ...
, osteochondrodysplasia
Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro"). Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Non ...
, and cardiomegaly
Cardiomegaly (sometimes megacardia or megalocardia) is a medical condition in which the heart is enlarged. As such, it is more commonly referred to simply as "having an enlarged heart". It is usually the result of underlying conditions that make t ...
. There is also a characteristic facies
In geology, a facies ( , ; same pronunciation and spelling in the plural) is a body of rock with specified characteristics, which can be any observable attribute of rocks (such as their overall appearance, composition, or condition of formatio ...
. Other features include patent ductus arteriosus
''Patent ductus arteriosus'' (PDA) is a medical condition in which the ''ductus arteriosus'' fails to close after birth: this allows a portion of oxygenated blood from the left heart to flow back to the lungs by flowing from the aorta, which has ...
, congenital hypertrophy of the left ventricle, and pericardial effusion
A pericardial effusion is an abnormal accumulation of fluid in the pericardial cavity. The pericardium is a two-part membrane surrounding the heart: the outer fibrous connective membrane and an inner two-layered serous membrane. The two layers of t ...
s.
Neurodevelopmental outcome appears normal, but obsessive traits and anxiety
Anxiety is an emotion which is characterized by an unpleasant state of inner turmoil and includes feelings of dread over anticipated events. Anxiety is different than fear in that the former is defined as the anticipation of a future threat wh ...
have been reported. It may also be associated with recurrent infections with low immunoglobulin
An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein used by the immune system to identify and neutralize foreign objects such as pathogenic bacteria and viruses. The antibody recognizes a unique molecule of the ...
levels and gastric bleeding, and additional possible associations include lymphoedema
Lymphedema, also known as lymphoedema and lymphatic edema, is a condition of localized swelling caused by a compromised lymphatic system. The lymphatic system functions as a critical portion of the body's immune system and returns interstitial fl ...
and heterochromia iridis
Heterochromia is a variation in coloration. The term is most often used to describe color differences of the iris, but can also be applied to color variation of hair or skin. Heterochromia is determined by the production, delivery, and concentra ...
.
Cause
Cantú syndrome apparently is inherited in an autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
fashion and appears to be affected by the ''ABCC9'' gene. ABCC9 gene provides a blueprint for creating the sulfonylurea receptor 2 in the human body.[ The gene is located on short arm of ]chromosome 12
Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the to ...
(12p12). Mutations in another gene (KCNJ8
Potassium inwardly-rectifying channel, subfamily J, member 8, also known as KCNJ8, is a human gene encoding the Kir6.1 protein. A mutation in KCNJ8 has been associated with cardiac arrest in the early repolarization syndrome.
Potassium channels ar ...
) has also been associated with this disorder. Both genes encode in ATP sensitive potassium (KATP) channel subunits. This second gene is also located on the short arm of chromosome 12 (12p12.1).
Mechanism
In terms of the mechanism of Cantú syndrome, mutations in the ''ABCC9'' gene total 25/31. Physiologically, sulfonylurea receptor
In molecular biology, the sulfonylurea receptors (SUR) are membrane proteins which are the molecular targets of the sulfonylurea class of antidiabetic drugs whose mechanism of action is to promote insulin release from pancreatic beta cells. More ...
2 is significant in vascular
The blood vessels are the components of the circulatory system that transport blood throughout the human body. These vessels transport blood cells, nutrients, and oxygen to the tissues of the body. They also take waste and carbon dioxide away f ...
relaxation.
An increase in O2 tension after birth, plus decreasing PGE2
Prostaglandin E2 (PGE2), also known as dinoprostone, is a naturally occurring prostaglandin with oxytocic properties that is used as a medication. Dinoprostone is used in labor induction, bleeding after delivery, termination of pregnancy, and ...
(a common prostaglandin) causes inhibition of voltage-gated potassium
Potassium is the chemical element with the symbol K (from Neo-Latin ''kalium'') and atomic number19. Potassium is a silvery-white metal that is soft enough to be cut with a knife with little force. Potassium metal reacts rapidly with atmosphe ...
channels and contraction of smooth muscle
Smooth muscle is an involuntary non-striated muscle, so-called because it has no sarcomeres and therefore no striations (''bands'' or ''stripes''). It is divided into two subgroups, single-unit and multiunit smooth muscle. Within single-unit mus ...
(in ductus).
Diagnosis
This condition can be diagnosed by genetic testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
. Furthermore, an echocardiogram
An echocardiography, echocardiogram, cardiac echo or simply an echo, is an ultrasound of the heart.
It is a type of medical imaging of the heart, using standard ultrasound or Doppler ultrasound.
Echocardiography has become routinely used in th ...
and X-ray may help in the diagnosis.
Differential diagnosis
The differential diagnosis of this condition consists of the following:[
*]Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which the heart becomes thickened without an obvious cause. The parts of the heart most commonly affected are the interventricular septum and the ventricles. This r ...
* Beckwith-Wiedemann syndrome
* Berardinelli-Seip congenital lipodystrophy
Treatment
The treatment/management for Cantú syndrome is based on surgical
Surgery ''cheirourgikē'' (composed of χείρ, "hand", and ἔργον, "work"), via la, chirurgiae, meaning "hand work". is a medical specialty that uses operative manual and instrumental techniques on a person to investigate or treat a pat ...
option for patent ductus arteriosus in early life and management of scoliosis
Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not t ...
via bracing. Furthermore, regular echocardiograms are needed for the individual who has exhibited this condition.[
]
History
This condition was described in 1982 by Cantú ''et al''.[Cantu JM, Garcia-Cruz D, Sanchez-Corona J, Hernandez A, Nazara Z (1982) A distinct osteochondrodysplasia with hypertrichosis--individualization of a probable autosomal recessive entity. Hum Genet 60: 36-41]
See also
* Atrichia with papular lesions
* List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ...
References
Further reading
* Retrieved 2017-04-01
*
External links
{{DEFAULTSORT:Cantu syndrome
Genodermatoses
Rare syndromes
Syndromes affecting the heart