Lymphatic malformations L18.1

Lymphatic malformations are congenital malformations of the lymphatic network. They are congenital, but can manifest themselves at different times. They result in abnormal lymphatic vascular spaces with clear, protein-rich fluid. Complex malformations involving blood vessels are common. Lymphatic malformations are often referred to as lymphangiomas, although they are not actually neoplasms.

Lymphoedema: By definition, lymphoedema is not counted as a lymphatic malformation but as a separate group. It is caused by hypoplasia or aplasia of the lymphatic network.

Lymphatic malformations can be macrocystic or microcystic. They occur superficially (microcystic) in the skin or mucous membranes, or macrocystically (from angioblasts of the axial mesoderm) in the subcutis or visceral organs.

• Macrocystic malformation, also known as cavernous type or cystic hygroma (mainly localized in the head and neck area).
• Microcystic malformation, also known as capillary type or lymphangioma circumscriptum (mainly in the mouth and throat area but also ubiquitous)

• Microcystic malformation with the clinical correlate of "lymphatic cocardial malformation". This skin anomaly is also referred to as "Targetoid hemosiderotic hemangioma" or "Hobnail hemangioma" although it has since been proven that it is neither a hemangioma nor a proliferating tumor.

• Lymphatic superficial reticular malformation (nevus lymphangioreticularis)

Primary lymphoedema: Mainly in younger patients. Genetically or sporadically occurring, unilateral or bilateral lymphoedema that manifests at birth or in early adolescence due to structural lymph vessel abnormalities. Primary lymphoedema can be divided into genetic and idiopathic.

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

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