Which cutaneous and genetic disorders are associated with primary lymphedema?

Updated: Mar 24, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Answer

As mentioned, primary lymphedema is seen in association with various cutaneous and genetic disorders.

Distichiasis lymphedema syndrome is a form of hereditary early and late-onset lymphedema associated with distichiasis (double row of eyelashes). Affected persons usually manifest bilateral lower extremity lymphedema by age 8-30 years. Lymphatic vessels are usually larger in affected areas. It is a hereditary condition with an autosomal dominant pattern with variable penetrance. It reportedly is associated with a mutation in the FOXC2 transcription factor. [22] Other associated anomalies may include vertebral abnormalities, spinal arachnoid cysts, hemangiomas, cleft palate, ptosis, short stature, webbed neck, strabismus, thoracic duct abnormalities, and microphthalmia.

Primary lymphedema has also been associated with yellow nail syndrome. This entity may be associated with recurrent pleural effusions and bronchiectasis.

Other genetic syndromes and cutaneous conditions associated with primary lymphedema include the following:

  • Turner syndrome

  • Noonan syndrome

  • Klinefelter syndrome

  • Neurofibromatosis type 1

  • Hemangiomas

  • Xanthomatosis

  • Congenital absence of nails

One case reportedly occurred in association with CHARGE (coloboma, heart anomalies, choanal atresia, somatic and mental retardation, genitourinary anomalies, ear abnormalities) syndrome. [23]


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