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Microcystic lymphatic malformation in a child and his mother

Aastha Gupta1, Kabir Sardana1, Pooja Arora1

  • 1Department of Dermatology, PGIMER Dr Ram Manohar Lohia Hospital, New Delhi, India.

Pediatric Dermatology
|August 27, 2019
PubMed

Insights

A rare familial case of microcystic lymphatic malformation (LM) was identified in a mother and son. This condition, typically sporadic, presented with perioral swelling and fluid-filled vesicles, confirmed by imaging and histology.

Area of Science:

  • Vascular anomalies
  • Pediatric dermatology
  • Medical genetics

Background:

  • Microcystic lymphatic malformation (LM) is a rare vascular anomaly.
  • Familial inheritance patterns are not well-established for microcystic LM.
  • Previous reports suggest autosomal recessive inheritance for isolated cystic hygromas.

Observation:

  • A 3-year-old boy presented with perioral swelling and grouped vesicles.
  • The patient's mother exhibited similar symptoms affecting the lip, cheek, and ala of the nose.
  • Both mother and son displayed similar lesions on the same side of the face.

Findings:

  • Magnetic resonance imaging (MRI) and histopathology confirmed microcystic LM in both patients.
  • This represents the first reported familial case of microcystic LM.
  • The presentation suggests a potential genetic component in microcystic LM.

Implications:

  • This case expands the understanding of lymphatic malformation inheritance.
  • Highlights the importance of considering familial factors in diagnosing microcystic LM.
  • Further research into the genetic basis of microcystic LM is warranted.

Keywords:
inheritedmicrocystic lymphatic malformation

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