About de santis cacchione syndrome

What is de santis cacchione syndrome?

De Sanctis-Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with neurological abnormalities, mental retardation, unusually short stature (dwarfism), and underdevelopment of the testes or ovaries (hypogonadism). Xeroderma pigmentosum is a group of rare inherited skin disorders characterized by a heightened reaction to ultraviolet light (photosensitivity), skin discolorations, and the possible development of several types of eye disorders and skin cancers. The most common neurological abnormalities associated with De Sanctis- Cacchione syndrome are low intelligence, an abnormally small head (microcephaly), the loss of ability to coordinate voluntary movement (ataxia), and/or absent (areflexia) or weakened (hyporeflexia) reflexes. De Sanctis-Cacchione syndrome is inherited as an autosomal recessive trait.



What are the symptoms for de santis cacchione syndrome?

Inflammation symptom was found in the de santis cacchione syndrome condition

Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about de Barsy syndrome is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.

An extremely wide and varied group of symptoms have been reported in individuals with de Barsy syndrome. The prematurely-aged appearance that commonly affects children with de Barsy syndrome is caused by underdevelopment of the skin and structures in the middle of the face (midface hypoplasia). Loose, sagging, inelastic skin that characterizes cutis laxa contributes to the prematurely-aged appearance. Less often, the skin may be thin and appear translucent so the underlying veins may be easily visible. In some cases, affected individuals may have reduced subcutaneous fat, which is the layer of fat just below the skin’s surface.

Infants with de Barsy syndrome may also have Distinctive facial features including an unusually prominent forehead (frontal bossing), thin lips, widely spaced eyes (hypertelorism), a small, upturned nose, and large, malformed (dysplastic) ears. Some affected infants may experience delayed closure of the soft spot on top of the skull (delayed closure of the anterior fontanel). The anterior fontanel may be abnormally large as well. In some cases, the circumference of an infant’s or child’s head may be smaller than would be expected based upon age and gender (microcephaly).

Affected infants may also have Diminished muscle tone (hypotonia) and joints that are abnormally loose (hypermobility) because of lax ligaments and tendons. Skeletal abnormalities may occur including frequent dislocations and partial dislocations (subluxations) including congenital dislocation of the hip, and hands that are stuck in a clenched position (contracture) with thumbs that turned inward (adducted thumbs). A sunken breastbone known as pectus excavatum, low bone mineral density, and weakened, fragile bones (osteoporosis) have also been reported.

Ocular abnormalities are also common in de Barsy syndrome and may include clouding of the lenses of the eyes (cataracts) and clouding of the corneas of the eyes (bilateral corneal opacification). The cornea is the clear (transparent) outer layer of the eye that helps let light in. Corneal opacification may not cause any symptoms or it can lead to varying degrees of vision loss. Less common ocular abnormalities include bluish discoloration of the whites of the eyes (blue sclera), nearsightedness (myopia), and eyes that do not line up in the same direction such as crossed-eyes (strabismus).

Varying degrees of Intellectual disability may also occur, ranging from moderate to severe. Affected infants and children may experience delays in attaining developmental milestones (developmental delays) and have reflex responses that are stronger than normal (hyperreflexia). As affected individuals grow older they may develop Seizures and involuntary, slow, writhing movements (athetoid-like movements) of the hands, feet, arms and legs.

Growth delays occur before birth and after birth (intrauterine and postnatal growth deficiency). In addition, affected infants may fail to grow and gain weight at the expected rate for age and gender (failure to thrive). Individuals with de Barsy syndrome may display height that is below what would normally be expected based upon age and gender (short stature).

Additional symptoms have been reported in some cases including inguinal and umbilical hernias.



What are the causes for de santis cacchione syndrome?

The symptoms of De Sanctis-Cacchione syndrome occur because of the body’s inability to repair damage to the building blocks of genes (DNA). The damage is caused by exposure to ultraviolet light, such as rays of the sun. Everyone has certain connective tissue cells (fibroblasts) that have the ability to repair this damage through a complex process. However, the fibroblasts in people affected by De Sanctis-Cacchione syndrome lack the ability or have a reduced capacity to repair their DNA. In addition, some affected individuals’ cells cannot properly repair sunlight-damaged skin.

Several forms (subdivisions) of XP have been identified, based on the capacity of the body to repair sunlight-damaged DNA. Any of the subdivisions of XP may occur in De Sanctis-Cacchione syndrome. However, the classic form of XP (xeroderma pigmentosum, stype A) or xeroderma pigmentosum, type D are most often found in association with De Sanctis-Cacchione syndrome.

De Sanctis-Cacchione syndrome is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.

In approximately 30 percent of the documented cases, individuals affected by De Sanctis-Cacchione syndrome have had parents who were related by blood (consanguineous). All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Investigators have determined that some cases of De Sanctis-Cacchione syndrome may be caused by disruption or changes (mutations) of a certain gene located on the long arm (q) of chromosome 10 (10q11). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Pairs of human chromosomes are numbered from 1 through 22, and an additional 23rd pair of sex chromosomes which include one X and one Y chromosome in males and two X chromosomes in females. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 10q11” refers to band 11 on the long arm of chromosome 10. The numbered bands specify the location of the thousands of genes that are present on each chromosome.



What are the treatments for de santis cacchione syndrome?

In individuals with De Sanctis-Cacchione syndrome total protection of the skin from sunlight (e.g., topical sunscreens, sunglasses, double layers of clothing) is necessary to prevent the development of skin lesions and other complications (e.g., skin cancers and some neurological symptoms). Affected individuals with De Sanctis-Cacchione Syndrome must limit outdoor activities during daylight hours to avoid exposure to ultraviolet light. Avoidance of chemical carcinogens, such as those in cigarette smoke, is also recommended.

For individuals who have skin cancer, early detection and surgical removal of the lesions are essential. Regular examinations of the skin and eyes by specialists are recommended. Genetic counseling will be of benefit to affected individuals and their families. Another treatment is symptomatic and supportive.



What are the risk factors for de santis cacchione syndrome?

De Sanctis-Cacchione syndrome is an extremely rare genetic condition that affects the brain and nervous system development. It is distinguished by cognitive impairment, developmental delays, and skin abnormalities (Xeroderma pigmentosum). The syndrome is named after the Italian doctors who described it for the first time in the early twentieth century. Due to its extreme rarity, hardly 200 cases are reported, and it tends to affect both men and women equally.

  • The exact cause of the condition is unknown, but it is thought to be linked to a gene mutation that impairs the body's ability to repair DNA damage caused by sun rays.
  • While the condition is uncommon, it can have a significant impact on the lives of those who are affected.
  • Although there is no cure for De Sanctis-Cacchione syndrome, early diagnosis and treatment can help improve symptoms and quality of life for those who suffer from it.
  • To avoid the symptoms of UV exposure from the sun. Total skin protection is implemented, including sun cream lotions, double clothing, sunglasses, and avoiding going out in the daylight.
  • Occurs in people who have a genetic predisposition (family history, maternal age, and certain environmental factors). As an autosomal recessive trait, the gene mutation is passed down through families.


Symptoms
Acute sunburn,Skin pigmentation,Blistering,Abnormally small head,Inflammation of eyes,Dwarfism,Fragile skin
Conditions
Skin abnormalities are caused by a heightened sensitivity to UV light (Xeroderma pigmentosum),Low intelligence,Underdeveloped testes or ovaries,Inability to coordinate voluntary movement,Increased incidence of eye and skin cancer,Weakened reflexes
Drugs
5-fluorouracil,Immunomodulators,Retinoids



Is there a cure/medications for de santis cacchione syndrome?

De Sanctis-Cacchione syndrome is a highly rare disorder evident with the skin and eye symptoms of Xeroderma Pigmentosum (XP) occurring closely with mental retardation, neurological abnormalities, dwarfism, and hypogonadism.

Treatment

  • Individuals affected with de Sanctis-Cacchione syndrome require ultimate protection of the skin from sunlight. This can be facilitated by sunglasses, topical sunscreens, and double layers of clothing.
  • It is essential to restrict the development of skin lesions and associated complications such as skin cancers and neurological symptoms.
  • Affected people with de Sanctis-Cacchione syndrome must avoid outdoor activities during daylight to eliminate exposure to UV light. Besides this, avoiding chemical carcinogens such as cigarette smoke is advisable for the affected individuals.
  • For people having skin cancer, surgical removal or early detection of the lesions is recommended. Regular monitoring of the eyes and skin by specialists is advisable.
  • For the affected individuals and their caregivers, genetic counseling is advantageous. The treatments are likely to be supportive and symptomatic.
  • Investigation theory suggests cosmetic surgery procedure which is dermabrasion to treat De Sanctis-Cacchione syndrome. Chemical peels, facial skin grafting, and excision of tumors can also be used to treat De Sanctis-Cacchione syndrome.
  • Topical 5-fluorouracil and dermabrasion are effective in treating early skin lesions and premalignant lesions. Creams and ointments containing Vitamin A derivatives are also considered useful for treating De Sanctis-Cacchione syndrome.


Symptoms
Acute sunburn,Skin pigmentation,Blistering,Abnormally small head,Inflammation of eyes,Dwarfism,Fragile skin
Conditions
Skin abnormalities are caused by a heightened sensitivity to UV light (Xeroderma pigmentosum),Low intelligence,Underdeveloped testes or ovaries,Inability to coordinate voluntary movement,Increased incidence of eye and skin cancer,Weakened reflexes
Drugs
5-fluorouracil,Immunomodulators,Retinoids



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