Hyperpigmented skin lesions in a patient with severe combined immunodeficiency and adenosine deaminase gene defect

Abstract

The patient was a 38-day-old male born to closely related consanguineous parents. The family history was unremarkable except for Down syndrome in his aunt. He was hospitalized due to productive cough (since about two weeks before), failure to thrive, delay in umbilical cord separation, and facial syndromic feature (low-set ear). In physical examination, generalized skin rashes were found (Figure 1). The hyperpigmented patchy rash involved the face, trunk, and extremities, with no scaling or itching, and had urticaria-like properties. The skin biopsy reported nonspecific dermal fibrosis.