What is lariche syndrome?

LaRiche syndrome (also known as LaRiche-Levine-Cogan syndrome) is a rare genetic disorder characterized by the dryness of skin and mucous membranes, hair loss (alopecia), and abnormal development of nails. It is caused by a mutation in the SOX18 gene, which plays a crucial role in the development of blood vessels and lymphatic vessels.

Symptoms of LaRiche syndrome usually appear during infancy or early childhood and can include a scaly, dry skin on the face, neck, arms, and legs, as well as reduced sweating. Hair loss can also be progressive and affect the eyebrows, eyelashes, and scalp. Nail abnormalities may vary from the absence of nail growth to the formation of thin, brittle, and easily breakable nails.

Other features of LaRiche syndrome may include bloating, constipation, abdominal pain, and the presence of varicose veins. Although it is a genetic disorder, it is not usually inherited from parents but rather occurs as a new mutation in the person affected.

There is no one specific treatment for LaRiche syndrome, and treatment is mainly focused on managing the symptoms. Moisturizing creams and ointments may be used to alleviate dry skin, and skin and fungal infections may be treated with antifungal cream or antibiotics. Hair loss may be alleviated with wigs or artificial hairpieces. People with LaRiche syndrome may also benefit from being monitored for potential complications such as lymphedema and varicose veins.