Xeroderma with the mutation is considered a carrier.

Xeroderma Pigmentosum, also known as XP, is a condition that
is characterized by an extreme sensitivity to ultraviolet rays.  This disease normally affects the parts of
the body that are exposed to sunlight, however, some individuals also face issues
with their nervous systems. XP is a rare disorder and affects an estimated one
in a million people across the United States and Europe (U.S. National Library
of Medicine, 2010.) Xeroderma Pigmentosum is an autosomal recessively inherited
disease, which means an individual can only be affected if both of their
parents are carriers for the disorder (Swanson, 2017.)

            Every cell
in a healthy human being contains two copies of each gene; one inherited from
the mother, the other from the father. Since Xeroderma Pigmentosum follows an
autosomal recessive inheritance pattern, the mutation must be present in both
copies in order for the offspring to be affected. An individual who only has one
copy of their genes with the mutation is considered a carrier. When both
parents are carriers of a recessive mutation on the same gene, their children
have a 25% chance of inheriting two mutated copies of the gene. Xeroderma
Pigmentosum is caused by mutations to genes that are involved in repairing
damaged deoxyribose nucleic acid, DNA. There are at least eight genes that are
known to play a role in XP. Many of the cases studied in the United States have
resulted from mutations in the XPC, ERCC2, or POLH genes (U.S. National Library
of Medicine, 2010.) Mutations in the other genes affect an even smaller
population of individuals effected. Variations to these genes alters the body’s
ability to repair skin cells that have been exposed to any ultraviolet rays.
Normal cells have the ability to fix DNA exposed to the UV rays, before any
damage is done. In people with XP, with more exposure comes more abnormalities
in their skin cells. This is what causes the cells to become cancerous and
eventually die. It is vital that individuals with this disorder are diagnosed
as early as possible, in order to take important precautions in their everyday

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            Prior to
childbirth, there is a variety of different tests that can be done to help
diagnose any conditions that the baby has. Amniocentesis, Chorionic villous
sampling, and cultures of amniotic cells are a few of the tests done to examine
the child’s DNA, prior to birth (Swanson, 2017.) If parents do not have genetic
testing done on their offspring, they can expect to see signs and symptoms of
Xeroderma Pigmentosum through infancy and early childhood. In most instances,
by age two, almost all children affected by the disorder develop freckling of
the skin in the areas most often exposed to the sun, such as the hands and face
(Lin, Tamura, & Kraemer, 2017.) Sometimes it is not the freckling that
suggests XP, instead sudden loss of hearing could be a signaling factor. Around
25% of individuals with XP also develop abnormalities of the nervous system and
can suffer from progressive neuro-degeneration with hearing loss. Cameron
Bricker was born with Xeroderma Pigmentosum and her parents and doctors did not
consider XP as a diagnosis until she suddenly lost her hearing at the age of
five (CheckOrphanORG, 2014.) Bricker’s sudden loss of hearing also suggested
that she may have De Sanctis-Cacchione syndrome, which is often associated with
Xeroderma Pigmentosum. De Sanctis-Cacchione is another extremely rare disorder that
effects the nervous system in those affected by XP. Mental retardation, dwarfism,
underdevelopment of sex characteristics, abnormally small head, ataxia, and
hyporeflexia, are the most common abnormalities that can occur as a result of
this condition (National Organization for Rare Disorders (NORD), 2003.)

            Aside from
the possible neurological defects, the main issue with Xeroderma Pigmentosum is
the skin conditions that develop for individuals with the disease. Since the
damage done to the genetic material is irreversible, it is important for those
effected by XP, to avoid exposure to UV rays. Some individuals can suffer from
painful symptoms after only ten minutes of sun exposure. These people can
suffer from sunburn that never heals, painful blistering, spider-like blood
vessels, patches of discolored skin, crusting and scaling of the skin, and
various types of skin cancers (Swanson, 2017.) The risk of developing skin
cancer is much greater in individuals who suffer from XP. In fact, the risk of developing
non-melanoma skin cancers, such as basal cell carcinoma or squamous cell
carcinoma, is almost 10,000 times greater and the risk of developing melanoma related
skin cancers is around 2,000 times greater (Lin, Tamura, & Kraemer, 2017.) The
onset of these cancers can vary from one person to the next and the amount of
sun exposure that they’ve encountered also plays a huge role in the development
of it as well. Another symptom associate with Xeroderma Pigmentosum that varies
with the amount of sun exposure one experiences is lentigos. Lentigos are a
patchy freckling on the skin that can occur in people with or without XP. For
people with Xeroderma Pigmentosum, these skin spots can occur on the face and
hands in the first two years of life. Although they normally appear on the
parts of the body that have the most sun exposure, they can appear anywhere on
the body. Normal, healthy individuals on the other hand can see these lentigos
appear after prolonged sun exposure later on in life (Lin, Tamura, &
Kraemer, 2017.)