Cutaneous manifestations of chronic granulomatous disease: A report of four cases and review of the literature

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Background:

Chronic granulomatous disease represents a group of genetic disorders in which impaired intracellular microbial killing by phagocytes leads to recurrent bacterial and fungal infections and granuloma formation. Cutaneous disease occurs in 60% to 70% of cases. The characteristic histologic finding of pigmented lipid macrophages in visceral granulomas has not been described previously in the skin.

Objective:

Our purpose was to review our experience of skin disorders in chronic ranulomatous disease.

Methods:

We studied the clinical and histologic findings in four patients with chronic granulomatous disease and unusual skin lesions. We reviewed the skin disorders seen in five additional patients with chronic granulomatous disease referred to the pediatric dermatology clinic. The literature was reviewed for previously reported cutaneous manifestations of chronic granulomatous disease.

Results:

A teenage boy with chronic granulomatous colitis had nonulcerating cutaneous granulomas from which no organisms were isolated. Histologic examination of both skin and bowel revealed the characteristic golden-yellow granular pigment in macrophages. A second boy had cutaneous aspergillosis involving the left foot; histologic examination revealed macrophages containing yellow-brown pigment at the periphery of the granulomatous inflammation. Two children had vesicular skin lesions. These lesions were recurrent in one boy for several years. In the second child they were associated with fatal intracranial and pulmonary infection. Histologic examination in both cases revealed a subcomeal polymorphonuclear infiltrate and perivascular macrophages containing yellow-brown pigment. Cultures were either negative or revealed organisms that are normally nonpathogenic skin commensals, such as coagulase-negative staphylococci.

Conclusion:

The cutaneous manifestations of chronic granulomatous disease encompass a variety of infections and inflammatory lesions. Diagnostic and therapeutic problems may arise because of difficulty in isolating a causative organism. The characteristic pigmented macrophages of visceral granulomas can also be found in skin lesions.

References (50)

  • CumutteI.T.

    Chronic granulomatous disease: the solving of a clinical riddle at the molecular level

    Clin Immunol Immunopathol

    (1993)
  • CumutteI.T.

    Recent advances in chronic granulomatous disease

    Curr Opin Pediatr

    (1990)
  • DinauerM.C. et al.

    Chronic granulomatous disease.

    Annu Rev Med

    (1992)
  • SpeertD.P. et al.

    Infection with Pseudomonas cepacia in chronic granulomatous disease: role of nonoxidative killing by neutrophils in host defense

    J Infect Dis

    (1994)
  • CumutteJ.T.

    Conventional versus interferon-γ therapy in chronic granulomatous disease

    J Infect Dis

    (1993)
  • A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease

    N Engl J Med

    (1991)
  • BerendesH. et al.

    A fatal granulomatosus of childhood: the clinical study of a new syndrome

    Minn Med

    (1957)
  • BridgesR.A. et al.

    A fatal granulomatous disease of childhood: the clinical, pathological, and laboratory features of a new syndrome

    Am J Dis Child

    (1959)
  • CarsonM.J. et al.

    Thirteen boys with progressive septic granulomatosis

    Pediatrics

    (1965)
  • JohnstonR.B. et al.

    Chronic familial granulomatosis: report of five cases and review of the literature

    Am J Dis Child

    (1967)
  • CarruthersJ.A. et al.

    Chronic granulomatous disease

    Br J Dermatol

    (1976)
  • WindhorstD.B. et al.

    Dermatologic manifestations of fatal granulomatous disease of childhood

    Arch Dermatol

    (1971)
  • JungK. et al.

    Severe infectious complications in a girl suffering from atopic dermatitis were found to be due to chronic granulomatous disease

    Acta Derm Venereol (Stockh)

    (1993)
  • EsterlyJ.R. et al.

    Disseminated BCG in twin boys with presumed chronic granulomatous disease of childhood

    Pediatrics

    (1971)
  • HodsagiM. et al.

    BCG dissemination in chronic granulomatous disease (CGD)

    Dev Biol Stand

    (1986)
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