ECTODERMAL DYSPLASIA

Description

Group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands

Symptoms

  • Abnormal nails
  • Abnormal or missing teeth or fewer than normal number of teeth
  • Decreased skin color (pigment), or this skin
  • Large forehead
  • Low nasal bridge
  • Thin, sparse hair
  • Learning disabilities
  • Poor hearing
  • Poor vision with decreased tear production
  • Sensitivity to light
  • Respiratory problems
  • A lack of breast development
  • Impairment or loss of hearing or vision
  • Frequent infections due to immune system deficiencies
  • Absence or malformation of some fingers or toes
  • Cleft lip and/or palate
  • Inability to perspire, which causes overheating
  • Recurrent high fever
  • Tooth enamel is also defective
  • Nails may be absent
  • Cuticles may be prone to infection

Causes

  • Mutation or deletion of certain genes (altered genes)
  • Genetic defect they may be inherited
  • Condition passed on down the family line
  • Sometimes, disease manifests with midfacial defects

Risk Factors

  • Frequency: rare in occurrence
  • Race: reported most often in whites
  • Gender: Males more affected
  • Age: seen from birth to childhood

Diagnostic Tests:

  • Biopsy of the mucus membranes
  • Biopsy of the skin
  • Genetic testing (available for some types of this disorder)
  • X-rays of the teeth or bones may be done
  • Dental evaluation and intervention
  • Prenatal diagnosis for pregnant ladies

Differential Diagnosis

  • Alopecia Areata
  • Aplasia Cutis Congenita
  • Focal Dermal Hypoplasia Syndrome
  • Incontinentia Pigmenti
  • Naegeli-Franceschetti-Jadassohn Syndrome
  • Pachyonychia Congenita

Treatments

  • Treatment is by treating the various symptoms
  • Early dental evaluation and intervention is essential
  • Wearing a wig and dentures to improve appearance
  • Using artificial tears to prevent drying of the eyes
  • Spraying the nostrils with saline nose spray to remove debris and prevent infection
  • Living in a cooler climate and take cooling water bath
  • Surgical procedures (repairing a cleft palate)
  • Surgical treatment for midfacial defects or hand/foot deformities
  • Air conditioning for home school, and work (for anhidrosis/hypohidrosis)
  • Maintaining adequate hydration and thermoregulation

Medications

  • Topical and systemic antibiotics (scalp erosions)
  • Artificial tears
  • Saline sprays
  • Treatment with therapeutic and/or prophylactic antibiotics when appropriate

Lifestyle Management

  • Constant attention to temperature regulation
  • Genetic counseling
  • Using dental implants
  • Monitoring for infection