Lymphatic malformationsL18.1

Lymphatic malformations are a congenital expansion of the lymphatic network. This leads to the formation of abnormal lymphatic vascular spaces with clear, protein-rich fluid.

Lymphedema: The lymphedema is by definition not counted among the lymphatic malformations and therefore as an independent group. It is caused by hypoplasia or aplasia of the lymphatic network.

Lymphatic malformations may be macrocystic or microcystic. They occur superficially (microcystic) in skin or mucous membranes, or macrocystic in subcutis or visceral organs.

Macrocystic malformation, also cavernous type or cystic hygroma (localized mainly in the head and neck region).

Microcystic malformation, also capillary type or lymphangioma circumscriptum (mainly located in the mouth and pharynx but also ubiquitous).

• Microcystic malformation with the clinical correlate of "lymphatic cocard malformation". This skin anomaly is called"Targetoid hemosiderotic hemangioma" or "Hobnailhemangioma" although it has been proven that it is neither a hemangioma nor a proliferating tumor.

Primary lymphedema: V.a. in younger patients. Genetic or sporadic, unilateral or bilateral lymphedema manifesting at birth or in early adolescence due to structural lymphatic vessel abnormalities. Primary lymphedema can be divided into genetic and idiopathic.

• Genetic lymphedema:
  • Lymphedema, Nonne-Milroy type
  • Lymphedema , Meige type (corresponding to lymphedema, Nonne-Milroy type with other associated symptoms).
  • Lymphedema-distichiasis syndrome
  • Yellow-nail syndrome
  • Noonan syndrome.
  • Lymphedema and other hereditary disorders (very rare):
    • Aagenaes syndrome
    • Aarskog-Scott syndrome
    • Buschke-Ollendorf syndrome
    • Lymphangiectasia-lymphoedema syndrome (Hennekam syndrome)
    • Hypotrichosis-lymphoedema-teleangiectasia syndrome
    • Kanzaki's disease
    • OLEDAID syndrome.
• Idiopathic lymphedema.

1. Brouillard Pet al (2014) Genetics of lymphatic anomalies. J Clin Invest 124:898-904
2. Manning SC et al. (2013) Lymphatic malformations. Curr Opin Otolaryngol Head Neck Surg 21:571-575
3. Vargas-Hernández VM et al (2014) Giant cystic lymphangioma breast. Report of a case with 20-year follow-up and review of the literature. Circle 82:81-86