What is Acrogeria?
If we were to understand the real substance of the word it would mean- aging of the tip and that ’s precisely what happens in Acrogeria . Acrogeria is one of the very few premature aging diseases that are present in the patients congenitally and it affects the skin on the hands and legs . The other two known previous aging conditions are Werner ’s Syndrome and Progeria . This occurs at very other ages of the patient ’s life . Acrogeria is otherwise known as Mategeria and Acrometageria . Acrogeria is a non - progressive condition and is n’t one that ’s black . The rapid ageing is picture not only in the peel , but affects other tissue as well .
What Causes Acrogeria?
As with most of these extremely rare disorders , the exact cause of Acrogeria is unknown but from the sketch , the disease is depict to have genic causal agent but not transmitted ones .
The first record typesetter’s case was present in two siblings which indicate that there could be heritage factor involved , however subsequently most of the noted cases of Acrogeria have been constantly sporadic in nature ; with no vertical transmitting regard .
The rarest among these that did need inheritance showed that the heritage was both of autosomal dominant type and autosomal recessionary type . Consanguinity ( marry within the family - such as among cousin ) has been noted to have a role in the occurrence of Acrogeria .
What Happens in Acrogeria?
Acrogeria- the quick aging of tissues- is said to occur due to mutations ( random alteration of the structure and functions of the affect gene which then procreate and scatter the variation ; this is a completely random event that may or may not be triggered by constituent such as environmental causes ( pic to toxins ) , etc . ) of the COL3A1 cistron that define the strength and elasticity- firmness of the pelt tissue . Each cell present in the human body has 23 pairs of chromosomes - contribution to each pair is from the female parent and the founding father . This sport then may or may not be inherit by the following generations . These mutations when observe under civilization show that there are a reduced number of courier RNA ( Ribonuclease ) that are supposed to control the aging in the roughage that the peel is made of- Type I and II collagen fibre .
So now that these genetic mutation are present , the elasticity and unity of the skin tissue are lost- which is unremarkably maintained by collagen fibre . But due to triggers for former ageing , the skin present especially on the branch and hands become fragile and intermit down . This happens since the fat tissue beneath the skin in these areas- known as the adipose layer- get atrophied and is drop off . So now there ’s no base to keep the skin business firm and intact . This occurrence is called subcutaneous atrophy- atrophy under the skin .
Incidence of Acrogeria
Only forty known caseful have been take down down in aesculapian lit . From the very few available data point , it can be assumed that females are affected at a higher rate than male but the deficiency of extensive research makes this information inconclusive .
Signs and Symptoms of Acrogeria
As in most diseases , it must be noted that not every patient role shall expose every sign and symptom of the Acrogeria . It varies from patient to affected role and that it ’s very uncommon to have a typical presentment feature all the said symptoms .
General Appearance : The young humanity affected by Acrogeria are generally see to have an aged appearance . ideate a small child get fine lines on the pelt and wrinkles just like an old mortal . Apart from this exterior , a very notable lineament is how small their hands and feet are- which is very apparently disproportionate to the increase and developing of the rest of their physical structure . The cheeks are empty and front like they ’ve sunken . The eyes are big and pop like that of an owl . The lips are very thin and evidently atrophy .
hide Lesions : The most common symptom of Acrogeria and the most prevalent one is the forward-looking aging that ’s present on the tips of the finger and toes .
Characteristically withered and wrinkles skin resemblant of quondam age is seen . The peel is pronounce to be like that of the texture of a sheepskin . It is thin and super flimsy . Veins are prominent and typical under the skin of the affected tyke because of the lack of fat tissue . cutis all over the body can also be affected in some cases- like the chest , etc .
seldom , ulcers can be formed on the hide .
A reddish purple clump of little ancestry vessels- capillaries- can be reckon under the skin in some cases- a phenomenon known as Telangiectasia .
There is hyperpigmentation present irregularly which is the increase color of the skin which is plausibly present as patches of hyper - colored pelt . Along with this ok hair is see to it to be present on the skin in almost all the cases of Acrogeria .
Symptoms Of Acrogeria That Affect The Skeletal Structure : The kidskin who have been affected by Acrogeria have extremely conciliatory joints- and this symptom is call Hyper - tractableness . If a closer face is taken at the ridges of their olfactory organ , it ’s seen to have assumed a convex shape- which shows some variety of bending has happened . This causes the patient to have what is called a peck nozzle . These kids have undersized jaws that are usually usual in children below 2 years of age but resolves naturally with development but not in this disease . Why this is of headache is because it cause overcrowding of the teeth in the unwritten cavity which in the early ages can cause inadequate feeding of the children- which leads to malnutrition and scrubby increment . This feature is called micrognathism .
Another skeletal feature that ’s realise in Acrogeria is scoliosis , which is the abnormal bending of the thorn which causes it to be curved to the side . Some cases may have wasted dysplasia , which is a experimental condition where there is a front of some unnatural cells that are present- in this case of the osteocytes ie osseous tissue cell .
Mental Abnormalities : it is due to stunted growth and maturation , frequently Acrigeria Kyd are take care to have stunt genial development and have a less intelligence service quotient , memory , and trouble - solving skills that are require from the kid their age .
Diagnosis of Acrogeria
Since there are no molecular workups that can aid in the diagnosing of Acrogeria , it ’s mainly and alone just a clinical diagnosis- a proper story including family history and clinical interrogation . Sometimes X - rays may be done but only to look for osseous tissue and cartilage involvements along with the skin wound , but this is n’t diagnostically worthful to the physician .
Biopsy of the skin shows that the fat under the skin- hypodermic tissue has been completely replaced . In its place connective tissue paper is present .
Treatment of Acrogeria
As of now , there is no known intervention for Acrogeria . However , this is n’t a major problem believe that Acrogeria has an fantabulous forecast . Families need to be supportive and counseling is provided for the affected before they contrive on having baby or to those parents who have affected fry .
Differential Diagnosis & Prognosis of Acrogeria
Acrogeria can be misdiagnosed as any of the following conditions characterized by untimely aging .
Both the above syndromes have many symptom in vernacular with Acrogeria include the loss of hypodermic tissue paper which is afterwards replaced with connective tissue- thus causing prominent veins to be visible in all areas of the eubstance . The peck nozzle , owls like eyes and small jaws are also seen in all three vitrine . All of these conditions show preindication of stunt maturation and growth such as curt stature and the growth is quit as soon as they enter pubescence .
Since they have many exchangeable feature of speech present , and the other two are comparatively coarse liken to Acrogeria , the only way to progress to a diagnosis of Gottron Syndrome is by watching out for the prognosis of the disease . Prognosis is a terminal figure used to explain the electropositive progress of a disease- such as how a disease reply to the treatment used . Since no treatments work out on this disease , a good prognosis would mean that there is very less declension or progression of the disease- and that after a sure stage no new symptoms occur and that the ones present are accomplishable .
In case of Acrogeria , the prognosis is go steady to be far better when compare to both Werner ’s Syndrome and Hutchinson- Gilford Syndrome .
Preventing Acrogeria
While there are no known way to prevent the natural event of this very rare disease , genetic counsel can be seen to help keep voluntary transmissions of the disease to the future generations .
