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2022, Number 2

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Revista Cubana de Ortopedia y Traumatología 2022; 36 (2)

Familial leg ulcer syndrome of early onset

Nápoles PM, Izquierdo HIC, de Armas LGA, García GA, Bacallao PY, Marrero RLO
Full text How to cite this article

Language: Spanish
References: 7
Page: 1-15
PDF size: 455.91 Kb.


Key words:

lower limb ulcers, hereditary juvenile lower limb ulcers, familial hereditary genetic condition.

ABSTRACT

Introduction: Leg ulcers are unhealed sores or open lesions of multifactorial etiology. They constitute an important pathology in the daily practice of health professionals at all levels of care.
Objective: To report an infrequent case with a familial hereditary genetic condition that caused ulcerative lesions in the lower limbs.
Case report: We report the case of a 30-year-old male patient with ulcerative lesions on both lower limbs, 18 years of evolution, very painful with signs of severe local infection. He had diagnosis of nonspecific ulcers in both lower limbs. He was admitted with poor general condition, great limitation of ambulation, intense pain in both legs, abundant dirty yellowish ulcerative lesions scattered on both legs, and light yellow, very foul-smelling discharge. A clinical, humoral, imaging, microbiological and anatomical-histopathological study was performed.
Conclusions: The diagnosis was familial leg ulcer syndrome of early onset, recessive inheritance linked to the X chromosome, is diagnosed. Larger scale studies are required to assess the contributions of genetic factors in the genesis of this disease, which could be the key to better understand its development.


REFERENCES

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Revista Cubana de Ortopedia y Traumatología. 2022;36