Focal Dermal Hypoplasia Syndrome Treatment & Management

Updated: Jun 24, 2019
  • Author: Wasim Haidari; Chief Editor: Dirk M Elston, MD  more...
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Treatment

Medical Care

Regular surveillance, with frequency increased as needed during and after adolescence, facilitates early detection of anomalies and timely preventative and/or corrective treatment planning in focal dermal hypoplasia (FDH) patients.

Medical management is targeted toward the various soft-tissue, dental, and skeletal anomalies, with the goal of achieving optimal functional and aesthetic results. Treatment with a flashlamp-pumped pulse dye laser may ameliorate the pruritic symptoms that sometimes are noted in affected skin, and it may improve the clinical appearance of the telangiectatic and erythematous skin lesions. [29]

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Surgical Care

Surgical management of focal dermal hypoplasia (FDH) is targeted toward the various soft-tissue, dental, and skeletal anomalies, with the goal of achieving optimal functional and aesthetic results. Periorificial fibrovascular papillomas may continue to appear during adulthood; these papillomas require repeated surgical intervention.

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Consultations

Consultations may include the following:

  • Dermatologist (care for painful and pruritic erosive lesions that are prone to infection)
  • Gastroenterologist and nutritionist (evaluation and management of the esophagus regarding gastroesophageal disease [GERD]) [30]
  • Geneticist
  • Otolaryngologist (evaluation and management of large papillomas of the larynx and/or trachea)
  • Oral surgeon/dentist
  • Ophthalmologist
  • Orthopedist
  • Plastic surgeon
  • Physical therapist and occupational therapist (management of hand and foot malformations)
  • Pediatric gynecologist
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Long-Term Monitoring

Variable disease expression of focal dermal hypoplasia (FDH) may delay the initial diagnosis. Clinical follow-up with evidence of phenotypic evolution can assist in making a definitive diagnosis.

Surveillance may include the following:

  • Routine follow up with a dermatologist
  • Routine evaluations for scoliosis, particularly in individuals with costovertebral segmentation abnormalities
  • Routine monitoring of growth and body composition to determine need for nutritional intervention
  • Regular eye examinations
  • Routine screening for cognitive, emotional, behavioral, and adaptive issues.
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