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The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity

Beom Hee Lee1,2, Aneel Aggarwal3, Anne Slavotinek4

  • 1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.

Journal of Medical Genetics
|July 1, 2017
PubMed

Insights

Focal facial dermal dysplasias (FFDDs) are rare genetic disorders causing facial lesions. This study details the four subtypes, their clinical features, genetic causes, and inheritance patterns, aiding in diagnosis.

Area of Science:

  • Genetics
  • Developmental Biology
  • Dermatology

Background:

  • Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders.
  • Characterized by bilateral, scar-like facial lesions.
  • Four subtypes (FFDD1-4) are classified by lesion location and additional abnormalities.

Purpose of the Study:

  • To describe the clinical phenotypes, genetic defects, and inheritance of the four FFDD subtypes.
  • To highlight overlapping facial abnormalities in FFDD3 with other genetic syndromes.
  • To improve clinical recognition and delineation of FFDDs.

Main Methods:

  • Review of clinical phenotypes.
  • Analysis of genetic defects.
  • Examination of inheritance patterns.

Main Results:

  • Detailed description of the four FFDD subtypes.
  • Identification of genetic defects for FFDD3 and FFDD4.
  • Noted overlap in facial abnormalities between FFDD3, Ablepharon macrostomia syndrome, and Barber-Say syndrome.

Conclusions:

  • Familiarity with FFDD subtypes is crucial for clinicians.
  • Further delineation of phenotypes and genetic defects is needed.
  • Understanding genetic causes aids in diagnosis and management of these rare disorders.
Keywords:
Barber-Say syndromeTWIST2ablepharon-macrostomia syndromechromosome 1p36focal facial dermal dysplasia

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