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Thursday, July 19, 2012

Punctate Hyper Keratosis

Palmoplantar keratodermas are a heterogeneous group of disorders
characterized by abnormal thickening of the palms and sole
Autosomal recessive and dominant,X-linked,{(illustrating the X-linked
inheritance of white eyed mutation in fruit flies
Sex linkage is the phenotypic expression of an allele related to the
chromosomal sex of the individual. This mode of inheritance is in
contrast to the inheritance of traits on autosomal chromosomes, where
both sexes have the same probability of inheritance. Since humans have
many more genes on the X than the Y, there are many more X-linked
traits than Y-linked traits.
In mammals , the female is the homozygous sex, with two X chromosomes
(XX), while the male is heterozygous, with one X and one Y chromosome
(XY). Genes on the X or Y chromosome are called sex linked genes.
In birds, the opposite is true: the male is the homozygous sex,
havingtwo Z chromosomes (ZZ), and the female (hen) is heterozygous,
having one Z and one W chromosome (ZW).
X-linked recessive traits are expressed in all heterogametics, but are
only expressed in those homogametics that are homozygous for the
recessive allele. For example, an X-linked recessive allele in humans
causes hemophilia . Hemophilia is much more common in males than
females because males are hemizygous - they only have one copy of the
gene in question - and therefore express the trait when they inherit
one mutant allele. In contrast, a femalemust inherit two mutant
alleles, a less frequent event since the mutant allele is rare in the
population. Tsarevich Alexei of Russia was the most famous sufferer of
X-linked hemophilia, and his disease may have played an important role
in the overthrow of the imperial regime, which changed the course of
history for millions ofpeople.
The incidence of recessive X-linkedphenotypes in females is the square
of that in males (squaring aproportion less than one gives an outcome
closer to 0 than the original). If 1 in 20 males in a human population
are green colour blind , then 1 in 400 females in thepopulation are
expected to be colour blind ( 1 / 20 )*( 1 / 20 ).
X-linked traits are maternally inherited from carrier mothers or from
an affected father. Each son born to a carrier mother has a 50%
probability of inheriting the X-chromosome carrying the mutant allele.
There are a few Y-linked traits; these are inherited from the father.
In classical genetics, a reciprocal cross is performed to test if a
traitis sex-linked)}, and acquired forms have all been described.
Palmoplantar keratoderma cum degeneratione granulosa Vörner," and
"Vörner'sepidermolytic palmoplantar keratoderma") is one of the
mostcommon patterns of palmoplantarkeratoderma, an autosomal dominant
condition that presentswithin the first few months of life,
characterized by a well-demarcated, symmetric thickening of palms and
soles, often with a "dirty" snakeskin appearance due to underlying
epidermolysis Diffuse orthohyperkeratotic keratoderma," "Hereditary
palmoplantar keratoderma,""Keratosis extremitatum progrediens,"
"Keratosis palmoplantaris diffusa circumscripta," "Tylosis,"
and"Unna-Thost disease") is inherited as an autosomal dominant
condition and is present from infancy, characterized by a
well-demarcated, symmetric, often "waxy" keratoderma involving the
whole of the palms and soles X-linked X - linked recessive traits are
expressed in all heterogametics, but are only expressed in those
homogametics - overall cure is to wash hands and sole of the feet when
such cause appear - if no improvement call your Doctor.

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