Symptoms And Treatment Of Xeroderma Pigmentosum

were believed to be caused by a single gene, have been assessed for potential environmental

There are no chromosomal abnormalities present in XP unlike Down’s syndrome. Chromosome abnormalities is associated with defective DNA repair. Irradiation of normal and XP cells by UV light induces chromatid and chromosome aberrations, and one study indicates that more chromatid aberrations are found in XP cells than in normal cells 24 hr after irradiation [11, 12]. As Sasaki et al. [12, 13] showed, XP lymphocytes were more prone to growth delay and chromosome aberration production of 4-nitroquinoline-1-oxide (4NQO) but in XP cells, the 4NQO reparation is defective. As XP is autosomal recessive, only carriers with both recessive allele will show symptoms of the disease. Studies of DNA repair in XP heterozygotes have revealed that heterozygous cells show the same levels of DNA repair as normal cells. There are currently no cures for XP, the only solution is consistent UV radiation protection which can significantly decrease the amount of skin lesions or cancer. Keratosis can be treated with cryotherapy or fluorouracil. It hasn’t been attempted but according to Halpern et al. [14], theoretically by inserting functional endonuclease genes into every cell in the body using the gene editing tool CRISPR, it might be able to cure XP and allow NER to function normally.

This condition is caused by getting too much ultraviolet (UV) radiation from the sun or other UV light sources.

Treatment of vitiligo is done to control the progress of the disease and to achieve repigmentation in lesions that have formed. An effective form of therapy is targeted UVB phototherapy which is based on the finding that ultraviolet light can induce melanin synthesis leading to repigmentation. Melanocyte loss in vitiligo is caused by immune attack operated by melanocyte-specific T cells, innate immunity, and melanocyte-specific antibodies [5]. The therapy helps initiate a process known as neo-melanogenesis in which melanoblasts multiply and travel along the infundibulum outer root sheath to the interfollicular epidermis in order to repopulate the epidermal areas as a response to DNA damaged by UV light. (Brenner

It has the squamous cells, the Basal cells, and the Melanocytes. Most damage comes from ultraviolet radiation. Ultraviolet Radiation is mostly found in the sun and tanning beds. Or being exposed to toxic substances can weaken your immune system. Some risk factors of this include Fair skin, a history of sunburns, excessive sun exposure, moles, sunny or high altitude climates, a family history of skin cancer, a weak immune system, and exposure to radiation or certain substances.

Skin tumor in human body proceeds through three major steeps, initiation, promotion, and progression. When UV exposed DNA are not repaired, photoproducts will form through the gene giving raise to the mutation in coding region of tumor suppressor gene, p53. This mutation is thus considered as the initiation step of multistep carcinogenesis. Following initiation, if mutated genes get over exposed with UV light, promotion of benign tumor will take place. Furthermore, if those cells are continuously in contact with UV irradiation, inhibition of apoptosis will eventually lead to tumor progression. Those mutated genes will increase in copy number causing additional mutation and gene rearrangement that result in genetically unstable malignant skin cancer (Daya-Grosjean and Sarasin, 2005).

Ectodermal dysplasia syndrome (EDS) is a large, heterogeneous group of inherited disorders in which two or more ectodermally derived anatomic structures fail to develop. Hypoplasia or aplasia of ectodermal appendages occurs, which includes skin, hair, nails, eccrine glands, and teeth. There are more than 200 types of ED with widely different phenotypes; the most common form of ED syndromes being X-linked hypohidrotic ectodermal dysplasia or HED(also referred to as Christ-Siemens- Touraine syndrome). Mutation in X-linked hypohidrotic ED has been mapped in the proximal area of the long arm of band Xq-12-q13.1.

Overexposure to natural or artificial sunlight – People who get high exposure to UV-B radiation naturally (sunlight) or artificially (tanning beds) are more susceptible to this disease. The role of UV-B light in the development of MCC is thought to be due to immunosuppressive action than any mutagenic/carcinogenic effect.

Vitiligo is a depigmentary disorder caused by melanocytes destruction and affecting approximately 1% of the world population of all skin types. It has a major psychological impact leading to significant effects on quality of the life of the patients. The exact origin of vitiligo is still unclear, and the pathogenesis is complex and involves the interplay of multiple factors. There is no treatment that ensures complete cure of vitiligo, but some available therapies are pharmacological, phototherapy and surgical approaches. Multiple factors can influence treatment outcome, such as individual characteristics, emotional issues, type of vitiligo, stability of the lesions and immunological status. The present literature review identified the main

Midnight Sun is a romantic film that was released in theaters on March 22nd, 2018. This film is about a 17-year-old girl named Katie Price who was diagnosed with a rare condition called Xeroderma Pigmentosum, also known as XP. XP is a condition that is marked by extreme sensitivity to ultraviolet rays from light. If these individuals are exposed to ultraviolet light, they are likely to develop skin cancer and could possibly lead to their death. As a result, Katie was prohibited to leave the house during the day. She would spend most of her time writing her own music and play her guitar, and when she was able to, she would go out at midnight and sing at a train station. As Katie was singing one night, her longtime crush, Charlie, who she had

To be given the diagnosis of Xeroderma Pigmentosum (XP) would be a life changing moment for the individual, along with the family. This genetic disorder, which is also known as Kaposi Disease, Xeroderma Pigmentosum, Variant Type XP-V and XP, is a rare genetic disorder. This disorder causes extreme sensitivity to ultraviolet (UV) light, it was first described in 1874 by Hebra and Kaposi. The diagnosis comes at a very early age of life with the symptoms including excessive freckling and skin blistering occurring after exposure to the sun; sometimes so severe that the burns can be mistaken for child abuse or neglect. To understand the disease and the complications associated are the only successful way of treating this disease.

Hereditary skin blistering epidermolysis bullosa simplex (EBS) is an interesting problem for the purpose of this end of semester presentation because it is an inherited skin blistering disease caused by the fragility of a compartment within the basal cell. This disease is caused by a dominant mutation, either missense or small

The case study focuses on a 15th month male child (proband) brought by his mother to a pediatrician with inconsolable crying due to acroparathesia in the lower extremities and angiokeratomas on his skin. The mother is 30-year-old Japanese healthy female (consultand) with a history of hypohydrosis. The proband has two siblings, a 6-year-old sister with a mild hearing deficit in both ears and a 4-year-old sister with no medical history. The consultand has two siblings, a 34-year-old healthy male with a history of hypohydrosis and 19-year-old sister with angiokeratomas similar to the proband. The consultand’s father and uncles have passed away at young ages ranging from 42- 50 due to acute myocardial infarction, renal failure or acute stroke. The proband’s father is Caucasian with a history of mild hypertension. The paternal grandparents have a medical history of mild hypertension (paternal grandmother) and hypocholesteremia (grandfather). Overall, the medical and family history of the proband is consistent with X-linked disease known as Anderson-Fabry disease as the affected male (consulstand’s father) passed his X chromosome to all of his daughters (consultand and sister). In this way, all daughters of affected males will have the gene for Anderson-Fabry disease.

Oculocutaneous albinism is set of disorders that affect pigmentation of the skin, hair, eyes; owing to autosomal recessive inheritance of derangement of melanin biosynthesis. There are 4 varieties of oculocutaneous albinism including type I, type II, type III, type IV. Second type of oculocutaneous occurs in the presence of mutations in the OCA2 gene as known as BOCA, Pink-eyed dilution protein homolog, P gene. OCA2 encodes P protein that takes the role of the passage of tyrosine which is the precursor of melanin, whereat we can reach the fact that OCA2 involves melanin synthesis process, therefore flaws in OCA2 causes disorders associated with melanin metabolism. The main characteristics of oculocutaneous albinism type II are nystagmus, reduced iris pigment with iris transillumination, reduced retinal pigment with visualization of the choroidal blood vessels, foveal hypoplasia1 and common ocular alterations seen in the every type of albinism. Additionally some of the OCA2 patients can obtain small amounts of melanin with age, consequently there could be

Estas sustancias junto a la radiación ultravioleta producen daño del ADN causando apoptosis celular. En relación a la piel, afecta sobre la dermis y la epidermis. El período de latencia hasta que encontramos lesiones es corto, que va desde minutas a horas, dependiendo de la posterior exposición al sol.