After the most meticulous testing and review I regret to inform you that your future child will be born with the genetic disorder known as Ichthyosis Vulgaris. The disorder is an inherited skin condition that prevents the body from naturally shedding its dead skin cells. Eventually as time passes those dead skin cells accumulate to create scale like patches on the surface of the skin. The condition is commonly referred to as “fish scale disease” due to the patches appearing similar to that of a fish’s scales.
There are several ways that a disorder can be passed down through families and Ichthyosis Vulgaris follows the inheritance pattern of autosomal dominant, which means the child can acquire the disease by receiving the abnormal gene from at least one parent. I would like to request to view both your families genetic disorder history to further the results although it is possible this is a new mutation in the child and the ancestors were unaffected carriers. Without an inheritance pattern it would be difficult to determine which specific gene or chromosome was mutated so it would quite beneficial to receive the information as quick as possible.
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Ichthyosis Vulgaris specifically affects the epidermis, the top layer of the skin that forms a barrier between our bodies and the outside world, and its subsequent Squamous and Melanocytes cells.
The condition may be present at birth or in the very early years of the child’s life. Besides the obvious polygon shaped scaly patches on the skin(gray, white, brown) other notable and identifiable symptoms include itchy, dry, or thick skin. However, Mr.Anders and Mrs.Anders, I am not trying to send you into a panicked alarm as there is much to be done for the child in the future. Ichthyosis Vulgaris does not affect life expectancy in any manner and although there is no cure for the condition certain treatment can help manage the
symptoms. Regularly exfoliating the skin with items designed for such purposes like pumice stone or certain creams will be key to relieving the symptoms by forcefully removing the excess skin. After exfoliation occurs, moisturizers with either the chemicals Urea or Propylene Glycol should be applied to keep the skin moist. Even having a humidifier in your home to keep the air moist will help keep your child’s skin from drying out. The important thing to remember when receiving this type of news is to keep a positive mindset. I hope to continue to work closely with you both to help build a bright future for your child. Please contact me with any questions or concerns you may have.
Barone, Eugene J., Judson C. Jones, and Joann E. Schaefer. "Hidradenitis Suppurativa." Skin Disorders. Philadelphia: Lippincott Williams & Wilkins, 2000. 21-25. Print.
Another condition associated with the integumentary system is impetigo. This skin condition is mostly seen in children. This condition of the skin is very easy to diagnose and is usually done with the doctor just looking at the patients affected area. The doctor may take a piece of the sore and send it to a lab to get a clearer diagnosis of impetigo.. impetigo ia contagious and can be spread by sharing towels and close contact. It also can be spread by scratching. The symptoms of impetigo are small red bumps around the mouth and nose area. Blisters and crusty sores are also symptoms. The treatment for impetigo is antibiotics. In a mild case of impetigo antibiotic ointment or cream is prescribed. In severe cases the doctor prescribes antibiotic pills to the patient.
ACHONDROPLASIA is known as being undersized, or less than 50in. in height. Having short limbs, a normal sized trunk, large head with a depressed nasal bridge and small face. This is a result of a disease in the thyroid gland. It can also be caused by Down syndrome or absorption, a cartilaginous tissue during the fetal stage. Hypochondroplasia, a mild form of dwarfism. Spinal tuberculosis and the deficiency of the pituitary gland secretions. Treatment with thyroxin or thyroid extract early in childhood results in normal growth and development. Somatrophin, also known as the human growth hormone is secreted by the anterior pituitary. Respiratory problems start to occur in infants. Symptoms of problems include snoring and sleeping with neck in a hyperextended condition. The limbs have rhizometic shortening. The legs are straight in infantry but when a child. He begins walking they develop a knock-knee position. When the child continues to walk legs begin to have a bowed-leg look. Occasionally, these curvatures are fixed. As the child continues to walk the kyphosis disappears and the back assumes a lordotic posture. If a delay in child’s walking occurs, the spine should be monitored closely for signs of gibbous formation. In infancy, hypercephalus can occur. Infants head circumference should be monitored close . Monthly checks of head circumference must be monitored. Radiologic studies are indicated if head circumference raises to disproportionately, or if symptoms of hydrocephalus. Child’s pediatrician should have a copy of head circumference curves for children with achondroplasia. Radiologic procedures for dwarfism include head ultrasound, C-T scan, or MRI of the head. If intervention is necessary, a ventriculoperitoneal shunt is placed relieving the pressure. Infants should also be monitored for foramen magnum compression. It is the opening at the base of the skull in which the brain stem and cervical spinal cord exit. When you have achondroplasia the foramen magnum is compressing the brain stem and spinal cord. Symptoms of narrowing include apnea the cessation of breathing and cervical myleopathy. C-T scans and MRI scans are done to examine the size of the infectious foramen magnum. A neurosurgical procedure called a foramen magnum decompression is executed to alarge foramen and alleviate further symptoms. Adolescents are at risk of getting lumbosacral spinal stenosis. The lumber spinal cord or nerve roots become compressed producing nerosurgical symptoms. Initial symptoms including weakness, tingling, and pain of the legs. Pain usually alleviated by assuming a squatting position.
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