Hechavarría PY, Acevedo VMA, Céspedes FM

Language: Spanish
References: 11
Page: 1-9
PDF size: 139.45 Kb.

ABSTRACT

Introduction: Porokeratosis of Mibelli is a rare condition in our country. It is included in the group of genodermatoses, being as it is an inherited keratinization disorder. This skin condition if of great interest to several medical specialties, such as genetics, dermatology, internal medicine, and others.
Clinical case: A case is presented of a family carrying this genetic disease of an autosomal dominant nature. Seven affected members were identified in three generations without any complications. The purpose was confirmed via histopathological examination.
Conclusions: Although the study condition is not a relevant problem in the municipality and does not have complications threatening the lives of patients, these may be affected depending on the location of the lesions. Therefore, genetic counseling is of great importance, so that family members may evaluate the genetic risk, perform the corresponding prophylactic actions, and control affected members and their offspring.

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