Rare Disease Series - Leopard Syndrome

This is the 4560th article of Da Yi Xiao Hu

In life, it is a common phenomenon to have various kinds of pigmentation on the face. Some are acquired, such as chloasma, and some are congenital, such as freckles. Most people think that it only affects the appearance and is not a big deal. In recent years, some people even deliberately draw freckles on their faces to keep up with the trend and imitate a special sense of playfulness.

But you know, if freckles are multiple, even all over the face and body, and accompanied by some other symptoms, you need to be alert, it may indicate a dominant genetic disease. This disease has a "beautiful" name - Leopard syndrome, also known as Leopard syndrome.

As the name suggests, the word "Leopard" is the abbreviation of the prominent manifestations of the syndrome, L (macula), E (abnormal electrocardiogram), O (eyes are too far apart), P (pulmonary artery stenosis), A (genital abnormalities), R (growth retardation), and D (deafness).

Among them, lentigo is the most important symptom, usually 1~4mm or larger coffee-colored spots, mostly occur on the face, neck and upper trunk, and can also be concentrated on the scalp, limbs, palms and soles and reproductive organs, etc., with less accumulation in the mucous membrane. It should be noted that spots are not necessarily present at birth, but more often appear during childhood. As age increases, the number increases and the color becomes darker, and they are often misunderstood as freckles.

Common heart abnormalities include pulmonary or aortic valve stenosis and ventricular hypertrophy. But more common are conduction disorders, including QT interval prolongation, P wave abnormalities, etc. During the consultation, the patient may be diagnosed with hypertrophic cardiomyopathy, atrial fibrillation, pericardial effusion, and pleural effusion due to his or her heart abnormalities.

Widening of the interorbital distance, ptosis of the eyelids, and protruding mandible are common skeletal abnormalities of the head and face.

Genital abnormalities such as gonadal dysgenesis, hypospadias and delayed sexual maturation are also seen in this disease, and male patients may also develop cryptorchidism.

Some people may have delayed growth and development, and may also have genetic defects such as asymmetric toes, uneven lengths, and scoliosis.

Deformed ears and deafness occasionally occur, but are often ignored because the patients are elderly.

In short, once the disease is suspected, a clear diagnosis can be made through genetic testing and risk stratification can be carried out, which can not only reduce the patient's risk of sudden death, life expectancy, and relieve anxiety, but also allow for scientific intervention through assisted reproduction, namely in vitro fertilization. Without gene editing, normal embryos are selected and implanted in the uterus, which can fundamentally block the spread of genetic diseases.

Author: Fan Li, Zhongshan Hospital Affiliated to Fudan University