ECTODERMAL DYSPLASIA

Ectodermal dysplasia is a group of inherited syndromes distinguished by abnormalities or defects in the nails, teeth, hair, or sweat gland function, along with other tissue abnormalities in the ectodermal origin.

The ectoderm is the utmost surface of cells in embryogenesis and helps the development of several parts of the body. Furthermore, ectodermal dysplasia happens when the ectoderm of particular areas malfunctions. Also, almost all ectodermal dysplasias appear from childbirth and are unprogressive disorders. 

TYPES

Presently, there are around 150 diverse types of ectodermal dysplasias. In an aim to categorize these, the various subgroup is generated based on the absence or presence of the four main (ED) ectodermal dysplasia abnormalities:

  • (ED1) Hair dysplasia/trichodysplasia
  • (ED2) Dental Dysplasia
  • (ED3) Nail dysplasia/onychodysplasia
  • (ED4) Sweat gland dysplasia/dyshidrosis

These types of ectodermal dysplasia are due to the deletion or mutation of specific genes found on diverse chromosomes. Since ED is due to hereditary defects, they might be passed down or inherited in the family. 

In some cases, they can manifest in people who do not have a family history of the disease, indicating that a novel mutation has occurred.

SYMPTOMS

The indications of ectodermal dysplasia vary. However, symptoms are not often apparent in babies and might not be discovered until childhood or infancy.

Typically, ectodermal dysplasia influences the primary organs and causes different indications.

Hair

  • Curly, brittle, and twisted hair
  • Scalp and hair may be sparse, thin, and light in color

Teeth

Nails

  • Nails may occasionally not be present
  • Thick toenails and fingernails with unusual shape and appearance
  • Cuticles might be at risk of infection

Other symptoms include:

  • The skin might be dry and prone to infection or rashes
  • Bad smelling nasal discharge
  • Lightly pigmented skin
  • Missing toes or fingers
  • Lack of breast development
  • Respiratory infections
  • Cleft lip and palate

DIAGNOSIS

To diagnose ectodermal dysplasia, doctors may do a physical exam to identify which types of syndrome you acquired. Some children are detected at birth, yet mild forms of the condition might be unknown up until the symptoms start to influence the child’s everyday life.

TREATMENT

There is no certain remedy for ectodermal dysplasia. However, by treating the symptoms, you can manage the condition. Doctors can treat this using:

  • Artificial tears
  • Surgical procedures
  • Saline irrigation
  • Cooling sprays or water baths to sustain normal body temperature

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