Mal de Meleda: A Focused Review

Caroline Perez; Amor Khachemoune


Am J Clin Dermatol. 2016;17(1):63-70. 

In This Article

Genetic Counseling

Genetic counseling is warranted in families with a history of PPK. When the family history is well-documented, a pedigree is a valuable tool in differentiating an AR disorder such as Mal de Meleda from autosomal dominant types of PPK disease and for providing the most accurate guidance to patients. In the case of a patient with an unknown type of PPK, it is important to evaluate the biological parents when possible for clinical signs and symptoms of disease. The absence of symptoms in biological parents is most likely suggestive of either an AR inheritance pattern or a spontaneous mutation of an autosomal dominant disease. Genetic testing is recommended in the interest of providing a conclusive diagnosis and guiding appropriate counseling.