Nonne-Milroy disease

Overview

Nonne-Milroy disease: A rare form of lymphedema (dilation of the lymphatic system) which is present at birth and causes enlargement of various parts of the body

Symptoms

The list of signs and symptoms mentioned in various sources for Nonne-Milroy disease includes the 12 symptoms listed below: * Ankle edema * Knee edema * Leg edema * Rough skin over swollen areas * Pigmented skin over swollen areas * Persistent pleural effusion * Ankle edema * Knee edema * Leg edema * Rough skin over swollen areas * Pigmented skin over swollen areas * Persistent pleural effusion

Causes

* The cause of Milroy disease is the failure of lymphatic vessels to develop in utero. * On a cellular level, Milroy disease has been related to defective VEGFR3 signaling mapped to a part of chromosome arm 5q. This region codes for a tyrosine kinase receptor specific for the function of the lymphatic vessels.

Diagnosis

History * Edema occurs at birth and is firm to the touch, although pitting may occur with pressure. The temperature of the overlying skin is increased. * The right lower extremity is preferentially involved. Generally, the edema involves the dorsum of the foot and does not extend beyond the level of the knee. * Patients may also present with recurrent cellulitis, papillomatosis, large caliber leg veins, and upsloping "ski-jump" toenails.9 * Hydrocele was the second most common presentation after edema in males. * Usually, several other family members have a history of congenital lymphedema. Physical * Brawny edema of a lower extremity is present at birth but usually does not extend above the knee. As the edema becomes chronic, a woody feel to the tissue may develop, signaling progressive tissue fibrosis. * Hemorrhagic verruciform xanthoma is described on the dorsum of the toes.10 * The overlying skin often exhibits a rosy hue. * Patients may have involvement of the external genitalia as a result of associated lymphatic abnormalities, and some may have a cystic hygroma of the neck.