Signs & Symptoms of Xeroderma Pigmentosum (XP) ..... (2/3)

Xeroderma Pigmentosum (XP) usually has 3 stages:

Continued sun exposure leads to the 2^nd stage ¾ characterized by ‘Poikiloderma’, where the irregular patches of the lightened/darkened skin, a spider web-like collection of blood spots and vessels are seen through the skin and these is thinning of the skin.

Signs & Symptoms of Xeroderma Pigmentosum (XP) ..... (1/3)

Xeroderma Pigmentosum (XP) usually has 3 stages:

The 1^st stage occurs around 6 months after birth (though the skin appears normal at the time of birth) with the following signs:

Ê Areas exposed to the sun such as the face show a reddening of the skin with scaling and frecking. Irregular dark spots may also begin to appear.

Ê The changes in skin progress the neck and lower legs. In severe cases the trunk may be involves.

Ê In the winter months these changes may diminish

HISTORY ..... (2/2)

In 1932, de Sanctis and Cacchione described three brothers in the same family with features of XP, mental deficiency, dwarfism, and gonadal hypoplasia with progressive neurological degeneration beginning at 2 years of age (de Sanctis and Cacchione, 1932). This severe phenotype is not commonly observed.

XP was described in a black African in 1938 (Loewenthal and Trowell, 1938; Figure 1c) and in an American black in 1940 (King and Hamilton, 1940).

HISTORY OF XP ..... (1/2)

The road to the current understanding of ‘Xeroderma Pigmentosum’ [XP] started in late 19^th century with Dr. Moriz Kaposi, a Hungarian-born professor of dermatology in Vienna. In 1874, Kaposi described 4 patients with ‘Xeroderma’ or ‘‘parchment skin’’ in the early textbook of dermatology (Hebra and Kaposi, 1874), which he wrote with Professor Ferdinand Hebra, his father-in-law (Kraemer et al., 1987). ‘‘In addition to the parchment-like dryness, thinness, and wrinkling of the epidermis, the checkered pigmentation and the small dilatations of the vessels, the most remarkable symptoms were the contraction and, at the same time, thinning of the skin’’, features designating poikiloderma.

In 1883, Albert Neisser of Breslau, Germany reported XP with neurological abnormalities in 2 siblings who had XP with progressive neurological degeneration beginning in the second decade (Neisser, 1883). At present, approximately ~25% of XP patients in the United States develop progressive neurological degeneration (Bradford et al., 2011; Table 1 & Figure 1d).

In 1878, Dr. RW Taylor, MD, of New York reported the first few patients in USA at the inaugural meeting of American Dermatological Association. In 1888, he reviewed the world literature and reported a total of 40 cases (Taylor, 1888).

Prevalence

The frequency of Xeroderma Pigmentosum (XP) is 1:250,000 populations in USA.

In Europe it is also approximately in every 250,000 births.

In Japan, XP frequency is 6 times higher, I in every 40,000 births.

What is Xeroderma Pigmentosum (XP)?

Xeroderma Pigmentosum (XP) is a rare autosomal recessive genodermatosis, where the patients have genetic inability to repair DNA damage, induced by ultraviolet light (UV Light). This clinically demonstrates as photosensitivity and has an incidence of skin cancer, higher than 1000 times, higher than the average.

Life Without Sun !!!

What if you are never allowed to go outside and play?

Unable to enjoy picnic in the park…..Swim in the Ocean!!!.....Rome around in the amusement park?!!!

A winter morning and you are just not allowed to feel the heat of the Sun !!!

A SUNNY DAY is CURSE for YOU !!!!!

Sounds impossible!!! L

There is a rare genetic disorder ¾ Xeroderma Pigmentosum ¾ where you are only safe under the moonlight!!!

HAPPY NEW YEAR 2014

HAPPY NEW YEAR 2014 to all my Readers!!!

May this new year gives you Strength to fulfill all your Wishes in a Healthy Way!!!

Keep Smiling J

Mutations in the WNT3 gene cause TAS

A mutation in the WNT3 gene has been shown to cause Tetra-Amelia Syndrome [TAS] among members of one large family from Turkey. This mutation, which occurs in both copies of the WNT3 gene in each cell, replaces one protein building block (amino acid) with a premature stop signal in the instructions for making the WNT3 protein. This mutation is written as ‘Gln83Ter or Q83X’.

Researchers believe that the Gln83Ter mutation results in the production of an abnormally short, nonfunctional version of the WNT3 protein. Loss of the WNT3 protein disrupts normal limb formation before birth and leads to the other serious birth defects associated with Tetra-Amelia Syndrome [TAS].

Source: www.ghr.nlm.nih.gov

Normal Function of WNT3 gene .....

The WNT3 gene is part of a large family of WNT genes, which play critical roles in development before birth. WNT genes provide instructions for making proteins that participate in chemical signaling pathways in the body. These pathways control the activity of certain genes and regulate the interactions between cells during embryonic development.

Research in animals indicates that the protein produced from the WNT3 gene is critical for the outgrowth of the limbs in the developing embryo. The WNT3 protein also appears to play an important role in determining the anterior-posterior axis (the imaginary line that runs from head to tail in animals) during the earliest stages of embryonic development. Additionally, the effects of mutations in the human WNT3 gene suggest that the protein may be involved in the normal formation of the facial features, head, heart, lungs, nervous system, skeleton, and genitalia.

Source: www.ghr.nlm.nih.gov