About doc 8, curth-macklin type

What is doc 8, curth-macklin type?

Ichthyosis hystrix, Curth-Macklin type is a rare inherited skin disorder. It is characterized by scaling skin (ichthyosis) ranging from mild to severe. The patches of scaly, thickened skin range from spotty to severe, and may appear on almost any part of the body.

What are the symptoms for doc 8, curth-macklin type?

Ichthyosis hystrix, Curth-Macklin type is characterized by patches of abnormally thick, hard skin that may appear almost anywhere on the body. Some clinicians describe the skin as “horn-like”. With treatment, the patches may be considerably reduced. Under examination by electron microscopy, numerous cells (keratinocytes) with two nuclei are found. Frequently, the nuclei are surrounded by shells of a primitive, precursor protein of the skin.

What are the causes for doc 8, curth-macklin type?

The cause of ichthyosis hystrix, Curth Macklin type is a defect in the development of the precursor, structural protein (tonofilaments). The defect occurs as a result of a change (mutation) in the gene that produces (codes for) these proteins. The faulty gene has been mapped to chromosome 12q13.

Ichthyosis Hystrix, Curth-Macklin type is an inherited disorder, transmitted as an autosomal dominant trait.

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 12q13” refers to band 13 on the long arm of chromosome 12. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

What are the treatments for doc 8, curth-macklin type?

Ichthyosis hystrix, Curth-Macklin type is treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly. This can be especially effective after bathing while the skin is still moist. Salicylic acid gel is another particularly effective ointment. The skin should be covered at night with an airtight, waterproof dressing when this ointment is used. Lactate lotion can also be an effective treatment for this disorder.

What are the risk factors for doc 8, curth-macklin type?

Ichthyosis hystrix, Curth-Macklin type is a rare autosomal dominant disorder characterized by dark hyperkeratotic plaques and palmoplantar keratoderma over knuckles, knees, and elbows.

  • The causative mutations occur in the gene KRT1. The gene is responsible for the supramolecular assembly of keratin intermediate filaments.
  • The histological examination of skin lesion biopsies diagnoses the disease through the identification of perinuclear cells and vacuoles formed by keratin intermediate filaments and binucleate keratinocytes.


Risk factors

  • It is a genetic disorder that follows the pattern of autosomal dominant inheritance. It means the pathogenic mutant causes the disease even when it is heterozygous. Hence the risk is very high when a single parent is affected.
  • Genetic counseling and advanced technology of In-Vitro Fertilization and molecular screening can help the affected parents to have a healthy baby. These technologies give an option of choosing healthy fertilized eggs that are screened for the presence of the disease mutant. The eggs that do not have the mutations are transferred to the prospective mother's womb.


The environmental risk factors

  • Exposure to sunlight, heat, and friction are the environmental risk factors that worsen dermatological conditions.
  • Dehydration is the physiological risk factor that not only worsens the skin manifestations, but also other ailments.


Symptoms
Scaling skin (ichthyosis) ranging from mild to severe,The patches of scaly, thickened skin range from spotty to severe, and may appear on almost any part of the body
Conditions
Severe, fissuring and mutilating palmoplantar keratoderma and dark hyperkeratotic plaques over knuckles, knees, and elbows,In some cases, symmetrically distributed verrucous plaques
Drugs
Skin softening (emollient) ointments, preferably plain petroleum jelly,Salicylic acid gel,Lactate lotion

Is there a cure/medications for doc 8, curth-macklin type?

Ichthyosis hystrix, Curth-Macklin type is an inherited skin condition. It is characterized by mild to severe scaling of the skin (ichthyosis). The scaly, thickened skin patches can range in severity from mild to severe and can develop on any portion of the human body.

  • Management for Curth-Macklin type is symptomatic and life-long. Oral and systemic keratolytics can improve localized hyperkeratotic lesions by exfoliating and increasing the moisture of the skin.
  • The treatment for this disorder is the application of skin-softening (emollient) ointments, particularly plain petroleum jelly, which is the treatment of choice for Ichthyosis Hystrix, Curth-Macklin type.
  • When the skin is still moist from a bath, it would be more appropriate to apply ointment.
  • The gel form of salicylic acid is another highly efficient ointment.
  • When using this ointment, the skin should be covered at night with an airtight, waterproof dressing.
  • Another successful treatment for this condition is lactate lotion.


Symptoms
Scaling skin (ichthyosis) ranging from mild to severe,The patches of scaly, thickened skin range from spotty to severe, and may appear on almost any part of the body
Conditions
Severe, fissuring and mutilating palmoplantar keratoderma and dark hyperkeratotic plaques over knuckles, knees, and elbows,In some cases, symmetrically distributed verrucous plaques
Drugs
Skin softening (emollient) ointments, preferably plain petroleum jelly,Salicylic acid gel,Lactate lotion

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