There are only about 200 cases of a girl suffering from leopard-skin syndrome worldwide


This is one of the rare cases reported by MSc-BS Tran Nguyen Anh Tu, Deputy Head of Department of Skin Aesthetics, Dermatology Hospital in Ho Chi Minh City reported at the annual scientific conference of the HCM City Association of Dermatology 18-4.

The girl’s face, limbs, and whole body were all in leopard-like inlays

According to Dr. Tu, an 8-year-old girl (living in Tien Giang) was hospitalized with a lot of dark brown in the face and body. In addition, the patient had other abnormalities in the jawbone, spine, shoulder, breast, teeth, deafness, developmental delay …

Her family reported that she was mute, congenital deaf, had mental and physical retardation, although there was no family history of similar illnesses. However, at the age of 4, the baby begins to appear pigmented and increasingly spreading.

Through examination, the doctor noted that the baby had many irregularly sized 1-5 mm dark brown inlays scattered on the face, chest, back, upper extremities, lower limbs, palms and soles of the feet. In the back, there are inlays with milk coffee color size 2×3 cm2. In addition, the baby’s body is not uniform. Specifically: the eyes are far apart, the lower jaw protrudes, the chest of the chicken, the scoliosis of the spine, the shoulder blade is protruding, the physical development retardation (height 105 cm, weight 15 kg) …

Besides, through the results of genetic analysis, the girl discovered the PTPN1 gene mutation.

Doctors identified the girl with Leopard’s syndrome. This name is given to the syndrome due to the appearance of the patient with leopard-like characteristics. This is considered the first case diagnosed in Vietnam and around the world only about 200 cases have been reported.

According to Dr. Tu, this syndrome is characterized by dark brown inlays. These macules are 3-5 mm in size, distributed in the neck, upper extremities, body, and lower extremities. Can be found on the face, scalp, palms, soles of the feet, and genital area. In addition to skin abnormalities, the patient also exhibited disorders in other organs. 87% of cases have flat bridge of nose and abnormal shape of ears, ears are closed low. Most patients reported symptom that the eyes were separated from each other. You may also experience congenital eyelid drooping, thick lips, big rough tongue …

Patients with Leopard syndrome need to be closely monitored by medical staff, check the heart once a year for an early diagnosis of abnormalities.



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