1. Cotard's
syndrome:
Cotard's delusion, also known as Cotard's syndrome or walking corpse syndrome, which is a rare mental disorder.
In this disorder the affected person holds the delusional belief that they are dead, do not exist, and are putrefying, or have lost their blood or internal organs.
According to the satistical
analysis of a hundred-patient cohort indicated that denial of self-existence is
present in 45% of the cases of Cotard's syndrome, the other 55% of the patients
presented with delusions of immortality.
Cotard's
syndrome exists in three stages:
(ii)
Blooming stage: full
development of the syndrome and delusions of negation; and
(iii) Chronic stage: continued severe delusions along with chronic
psychiatric depression.
2. Epidermodysplasia Verruciformis:
Epidermodysplasia verruciformis (EV), also known as treeman syndrome. It is an
extremely rare autosomal recessive hereditary
skin disorder associated with a high risk of skin cancer.
It is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin which results in uncontrolled HPV infections result in the growth of scaly macules and papules looking like tree bark, particularly on the hands and feet.
It is typically associated with HPV types 5 and 8, which are found in about 80%
of the normal population as asymptomatic infections, although other types may
also contribute.
The condition usually has an onset of
between the ages of one and 20 but it can occasionally be present in middle age. The condition
is also known as Lewandowsky-Lutz
dysplasia, named after the physicians who first documented it, Felix
Lewandowsky and Wilhelm Lutz.
The condition occurs due to inactivating PH mutation in either the EVER1 or EVER2 genes.
These
gene are located adjacent to one another on chromosome 17.
These genes play a role in regulating the distribution of zinc in the cell
nuclei, whereas Zinc is a necessary cofactor for many viral proteins, and the
activity of EVER1/EVER2 complex appears to restrict the access
of viral proteins to cellular zinc stores, limiting their growth. Other genes
have also rarely been associated with this condition. These include the ras homolog
gene family member H.
3. Anencephaly:
Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development.It is a cephalic disorder that results from a neural tube defect, which occurs when the rostral (head) end of the neural tube fails to close, usually between the 23rd and 26th day following conception. But it is accepted that children born with this disorder usually only lack a telencephalon. It is the largest part of the brain consisting mainly of the cerebral hemispheres, including the neocortex, which is responsible for cognition. The remaining brain structures are usually covered only by a thin layer of membrane. However skin, bone, meninges, etc. are all lacking. With very few exceptions, infants with this disorder do not survive longer than a few hours or possibly days after their birth.
4. Harlequin-type ichthyosis:
Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire
body at birth.
The skin forms large, diamond-shaped plates that are separated by deep cracks. These cracks affect the shape of the eyelids, nose, mouth, and ears and also limit movements of the arms and legs. Restricted movement of the chest can lead to breathing difficulties.These plates fall off over several weeks. Other complications can include premature birth, infection, problems with body temperature, and dehydration. The condition is the most severe form of ichthyosis, a group of genetic disorders characterised by scaly skin.
Harlequin-type ichthyosis is caused
by a loss-of-function mutation in the ABCA12 gene.
This gene is responsible for the regulation of protein
synthesis for the development of the skin layer. Mutations in
the gene cause impaired transport of lipids in
the skin layer and may also lead to shrunken versions of the proteins
responsible for skin development. Less severe mutations result in a collodion
membrane and congenital ichthyosiform erythroderma-like
presentation.
ABCA12 is an ATP-binding cassette transporter (ABC
transporter), which are members of a large family of proteins that hydrolyze ATP to
transport cargo across cell membranes. ABCA12 is thought to be a lipid
transporter in keratinocytes necessary for lipid
transport into lamellar granules during the formation of
the lipid barrier in the skin.
5. Cyclopia:
Cyclopia is the most
extreme form of holoprosencephaly and is a congenital
disorder (birth defect) characterized by the failure of the
embryonic prosencephalon to properly divide the orbits of the eye into two cavities. Its incidence is 1 in
16,000 in born animals and 1 in 200 in miscarried fetuses.
Typically, the nose is either missing
or non-functional. This deformity (called proboscis) usually forms above the center eye
or on the back, and is characteristic of a form of cyclopia called
rhinencephaly or rhinocephaly. Most such embryos are either naturally aborted or
are stillborn upon delivery.
Although cyclopia is rare, several
cyclopic human babies are preserved in medical museums.
Genetic defects or toxins can misdirect the embryonic forebrain-dividing process. One highly teratogenic alkaloid toxin that can cause cyclopia is cyclopamine or 2-deoxyjervine, found in the plant Veratrum californicum (also known as corn lily or false hellebore).
Grazing
animals are most likely to ingest this plant and induce cyclopia in offspring.
People sometimes accidentally ingest false hellebore while pregnant, thinking
it is hellebore, an unrelated plant which does not even resemble false
hellebore, being recommended as a "natural" treatment for vomiting, cramps, and poor circulation, three conditions which may be present
in the early stages of pregnancy. Cyclopia occurs when certain
proteins are inappropriately expressed, causing
the brain to stay whole, rather than developing two distinct hemispheres. This
leads to the fetus having one optic lobe and one olfactory lobe, resulting in the eye and nose malformations of cyclopia.
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