Abstract and Introduction
Abstract
Introduction: Dubowitz syndrome is a rare genetic disease with only a few cases reported in the literature. It is characterized by growth retardation, microcephaly, facial dysmorphism and higher risk of developing cancer and cardiomyopathies. PG is an autoinflammatory disorder that causes painful ulcers to develop on the skin and has not been previously associated with Dubowitz syndrome.
Case Presentation: The authors report the case of a 50-year-old female with Dubowitz syndrome who developed painful ulcerative lesions. An incisional biopsy was performed to rule out other diagnoses, and a subsequent clinical diagnosis of PG was made. The patient was treated with specialized wound dressings and oral glucocorticoids. The clinical picture improved consistently after 7 weeks of therapy.
Conclusions: This case report, to the authors' knowledge, is the first to suggest a possible association between Dubowitz syndrome and PG and also to indicate an effective treatment.
Introduction
Dubowitz syndrome is a rare genetic and developmental disorder with an autosomal recessive inheritance that was described for the first time in 1965.[1] This genetic disorder entails a plethora of clinical manifestations, including growth restriction, microcephaly, intellectual disability, eczema, facial dysmorphism, and increased risk of developing such malignancies as leukemia and lymphoma. As of now, a little more than 200 cases have been reported in the literature.[2]
PG is a neutrophilic dermatosis that presents with inflammatory and ulcerative lesions on the skin. More than 50% of patients have a comorbid disease,[3] and several autoinflammatory disorders are associated with PG.[4] The authors of the current article report an unusual case of PG in a patient affected by Dubowitz syndrome.
Wounds. 2023;35(3):E123-E125. © 2023 HMP Communications, LLC
