Santana HEE, Tamayo CVJ, Cruz MN

Language: Spanish
References: 10
Page: 624-630
PDF size: 72.30 Kb.

ABSTRACT

Introduction: rothmund-Thomson syndrome or congenital Poikiloderma is considered a rare genetic disorder caused by mutation in the chromosome 8q.24.3. Clinically it is characterized by atrophic degeneration and abnormal skin pigmentation, starting in childhood.
Objective: to describe the clinical features of a patient with an inherited disease with multiple dermatological affections.
Case presentation: this is a male patient 10 years old with multiple atrophic changes in face before 6 months of age and in the limbs and trunk, also present photosensitivity, sparse hair, marked growth retardation.
Conclusions: it is important to conduct early diagnosis of this entity by the possibility of a secondary prevention in patients and provide appropriate genetic counseling to the family.

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