Jadasson-Lewandowski Syndrome

Jadasso-Lewand syndrome (JLS) is a rare genetic disease that manifests itself in the form of congenital hyperkeratosis of the skin and nail lesions. This disorder is hereditary and has an autosomal recessive pattern of inheritance.

The syndrome was first described by Jadasson-Lewandowski at the beginning of the 20th century. The disease affects people of both sexes, and most often it occurs in children under 1 year of age. With the syndrome, the patient experiences various changes in the skin and nails, which may manifest differently depending on the type of disease.

However, symptoms of JLS can be noticed in various areas of the body. The skin and nails of the fingers and toes are most often affected. In most patients, hair and nails are not affected, but may be affected on a minor part of the body and are used as diagnostic signs of JLS. Various dermatologic signs (eg, papules, plaques, pustules, or scars) may also be detected, but the most noticeable change is thickening and abnormal development of the nails on the distal phalanges of the fingers and toes, as well as excessive oozing and peeling. This can lead to fused nails and painful walking.

The main factors provoking the development of the syndrome are disorders in the cells of the skin and nails associated with genetic changes. Research shows that JLS is associated with a decrease in the amount of specific proteins and lipids on the surface of cells, which causes cells to stop producing the necessary amount of oil and keratin that form the stratum corneum of the skin. As a result, changes in cell shape and size occur and keratin formation increases. Thickening of nails in JLS can be caused by several factors: an increase in the amount of nail matrix (connective tissue) and activation of keratinocytes (cells that produce keratin).

One of the main treatments for JLS is the removal of deformed nails through surgery or cryotherapy (treating the extremities with liquid nitrogen). However, in addition to this, the patient requires constant therapy, including the use of moisturizing and protective creams, hand baths, antifungal medications, as well as training in proper nail and skin care techniques. This comprehensive approach helps reduce the manifestations of the disease and improve the quality of life of patients with JLS, and sometimes even helps restore the function of the affected areas of the skin.