5 most rare anomalies
Syndrome Clarkson
Syndrome Clarkson is a medical condition rare in the number and size of
pores of the capillaries is increased, leading to a leakage of fluid from blood
into the interstitial fluid, resulting in severe dangerously low organ,
hypotension and edema multiple following infusion limited. It presents with
recurrent episodes of shock due to leakage of plasma, concomitant with
hemo-concentration, hypoalbuminaemia and edema.
Some of the symptoms of the disease included The Clarkson:
Capillary Leakage
generalized swelling
Low levels of albumin in the blood
High level of abnormal proteins in the blood
Low blood pressure
Each attack Clarkson has two phases, the first lasting for several days.
During the phase of resuscitation, doctors focus on maintaining control of
capillary leak and the patient's blood pressure. The second stage is usually
referred to as phase restoration, when albumin and reabsorbs tissue fluids.
The purpose of this phase is to try to keep the patient's blood pressure to a
level sufficient to prevent permanent organ damage.
Xeroderma pigmentosum
Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder of DNA
repair in which the ability to repair damage caused by ultraviolet (UV) light is deficient.
[2]:574
In extreme cases, all exposure to sunlight must be forbidden, no matter how small;
as such, individuals with the disease are often colloquially referred to as "Moon child".
[3]
Multiple basal cell carcinomas (basaliomas) and other skin malignancies frequently
occur at a young age in those with XP; metastatic malignantmelanoma and squamous
cell carcinoma[4] are the two most common causes of death in XP victims. This disease
is present in both genders and in all races, with an incidence of 1:250,000 in the United
States.[5] XP is roughly six times more common in Japanese people[4] than in other
groups.
Normally, damage to DNA in epidermal cells occurs during exposure to UV light. The
absorption of the high-energy light leads to the formation of pyrimidine dimers,
namely cyclobutane-pyrimidine dimers and pyrimidine-6-4-pyrimidone photoproducts. In
a healthy, normal human being, the damage is first excised by endonucleases. DNA
polymerase then repairs the missing sequence, and ligase "seals" the transaction. This
process is known as nucleotide excision repair.
Neurofibromatosis
Neurofibromatosis is a genetic disorder that disrupts the nervous system cell
growth, which cause the formation of tumors on nerve [Link] tumors
can be located anywhere including the brain, spinal cord and nerves.
Neurofibromatosis is usually diagnosed in childhood or [Link]
tumors and disease are often not serious but the effects may vary from
neurofibromatosis hearing loss and learning difficulties, to cardiovascular
complications and even [Link] goal of treatment is to prevent fibroids
growth and development disorders and manage complications, as they
emerge.
Oligodactyly
It is a congenital disease that is manifested by the presence of more than
five fingers per hand or foot.
NEVUS OF OTA
Nevus of Ota is a pigmentation disorder that can be characterized clinically
by diffuse bluish-brown staining, more or less discrete, localized on the face,
usually on the route of the 1st and 2nd branches of the trigeminal nerve,
which is often found in Asians, especially in Japan. However, over time, cases
have been reported among Indians, blacks and exceptionally, the white race.
The disease is mainly described among women, usually with an onset at
birth or during puberty [1,2]. In this paper we describe the case of a 22 year
old Caucasian female, who presented with a diffuse brown-blue coloration
located in the zygomatic area, over the lower eyelid and sclera of the right
eye that appeared since childhood. The case represents a rarity due to its
occurrence in a light-skinned person.
