This strange disease causes fingernails and toenails to disappear!

A 44-year-old woman gives birth to a baby weighing almost 4 kilos by cesarean section in an English maternity ward. Her pregnancy went smoothly and the baby seems healthy. But doctors quickly noticed that something was wrong with the infant’s hands and feet. In fact, all of his toes have no nails and are smaller than normal. And on his hands, he is missing the nail of the little finger of his right hand and that of the ring finger of his left hand. On the fingers where the nail is present, it shows no abnormality.

When there is skin instead of nails

This infant suffers from a rare disease, very rare even – only around twenty cases are described in the scientific literature – which deprives, partially or entirely, those affected of their nails on their feet and hands. The absence of nails is called anonychia and, in the case presented here, is of origin geneticgenetic in all likelihood but the parents did not wish to do the genetic tests to confirm it. The disease is more common if both parents are from the same family, which is not the case here.

Indeed, congenital anonychia is linked to the presence of a mutation in the embarrassedembarrassed rspo4 located on the chromosomechromosome 20. The proteinprotein encoded by this gene serves as a signal in numerous signaling pathways. It seems that this mutation is transmitted by an autosomal recessive route, that is to say that a single copy of the mutated gene is sufficient to induce the symptomssymptoms. There are also dominant forms, where both copies of the gene are affected, and in which all fingernails and toenails are absent. Anonychia can also be one of the symptoms of more complex diseases or can appear after an infection, trauma, or skin disease, symptoms which do not have a genetic origin. Congenital anonychia does not cause other health problems other than the absence of nails, which can be remedied by the application of false nails.