A 6 month old immunodeficient boy with diffuse erythroderma, violaceous nodules, and pustules

By Yoav Dori, MS III, Johns Hopkins University School of Medicine

Introduction:
A 6 month old boy with a severe combined immunodeficiency syndrome of unknown genetic etiology developed a diffuse erythroderma with scattered violaceous nodules and pustules.

History:
The patient was a full term baby born via normal spontaneous vaginal delivery to a 22 year old mother who was PPD positive. After delivery he spent a week in the hospital for evaluation of delayed stooling, poor oral intake, and hyperbilirubinemia. At age 5 weeks he was readmitted for evaluation of elevated direct and indirect bilirubin, hepatosplenomegaly, and a fine scaly red rash that covered his trunk, back, and extremities, but spared his face. A liver biopsy showed congenital hepatitis but no evidence of biliary atresia. His formula was changed, and he was discharged from the hospital. At age 4 months he was readmitted with fever and a total body pink scaly rash. Blood cultures were positive for Staphylococcus aureus (treated with Ceftriaxone) and Pseudomonas aeruginosa (treated with Ceftazidime/Tobramycin). During his hospitalization an immunologic evaluation showed a peripheral blood eosinophilia, normal total lymphocyte count but decreased CD8 count and decreased response to T cell mitogens. Immunodeficiency was suspected but the etiology was not determined. He was discharged only to be readmitted a week later for recurrent fever and a persistent rash. Blood cultures on this admission grew Candida albicans, Enterococcus faecalis, and Staphylococcus haemolyticus. He was treated for two weeks with Amphotericin, Vancomycin, Ampicillin, and Gentamicin. He was subsequently transferred to Johns Hopkins Hospital for further evaluation.

Clinical Presentation:
Widespread branny scales were superimposed on a lacy erythema. He had umerous discrete flaccid pustules and several firm nodules that were most prominent on the lower extremities. A large 1.5 cm pustule was visible on the inner aspect of the left ankle.

Pathology:
A skin biopsy from the left ankle showed irregular acanthosis and focal pseudoepitheliomatous hyperplasia. In the dermis there was a mixed inflammatory cell infiltrate composed of neutrophils, lymphocytes, and histiocytes. An acid fast stain showed numerous organisms. The organisms were also visible on a Gram-Weigert stain. The PAS stain was negative for fungal elements.


	Image of the ankle showing violaceous papules and nodules overlying erythroderma	Image of the leg showing diffuse erythema and scaling with violaceous nodules some with central pustule	Diffuse erythema and scale seen on abdomen, leg, and genital areas

	A skin biopsy of the left ankle showing irregular acanthosis and focal pseudoepitheliomatous hyperplasia. In the dermis there is a mixed inflammatory cell infiltrate composed of neutrophils, lymphocytes, and histiocytes	Higher magnification image of skin biopsy showing mixed inflammatory cell infiltrate	Numerous organisms are seen at high magnification with an Acid-Fast stain

Question 1:
What is the differential diagnosis?

Question 2:
What other diagnostic studies will this patient need?

Question 3:
How would you treat this patient?

A 6 month old immunodeficient boy with diffuse erythroderma, violaceous nodules, and pustules

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