Chronic Granulomatous Disease Clinical Presentation

Updated: Jul 29, 2019
  • Author: Roman J Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Chronic granulomatous disease (CGD) becomes apparent during the first 2 years of life in most patients, but the onset is occasionally delayed into the second decade of life. The earliest manifestations often involve the skin. Recurrent pyodermas are common, and they often appear as perianal, axillary, or scalp abscesses.

Systemic findings include osteomyelitis, pulmonary abscesses and granulomas, spleen and/or liver abscesses, and hepatosplenomegaly. Pyrexia may be noted. Diarrhea may occur.


Physical Examination

Short stature is a prominent clinical feature in children and adults with chronic granulomatous disease (CGD). Patients with CGD usually present with recurrent bacterial and fungal infections in early childhood. The most common initial manifestations are as follows [20] :

  • Pneumonias [21]
  • Otitis
  • Adenitis
  • Skin infections
  • Septicemia
  • Diarrhea
  • Spleen and/or liver abscesses
  • Gingival abscesses
  • Suppurative lymphadenitis

Patients may have inflammatory and presumably noninfectious conditions such as granulomatous colitis and obstructive granulomas.

The earliest reports of CGD emphasize dermatitis as a characteristic and often presenting manifestation of the disease. [22, 23] The dermatitis was described as an eczematoid, seborrheic, or infectious eczematoid dermatitis that predominantly involved the eyelids and periorbital skin, nares, perioral skin, and ears. The skin lesions frequently became pustular. Similar eruptions were described on the scalp, neck, axillae, inguinal folds, retroauricular folds, and interdigital web spaces. Generalized maculopapular, pustular, and papulopustular eruptions of the newborn were also reported.

Cutaneous manifestations other than dermatitis can be present. Neonatal pustulosis is commonly the first sign of the disease. Recurrent pyodermas are common, and they appear as perianal or axillary abscesses. Eczema of the scalp and lesions of the periorbital, nasal, and postauricular regions are typical, and it is often complicated by infection with staphylococci or other bacteria. Minor abrasions frequently lead to furunculosis and subcutaneous abscesses. Abscesses characteristically heal slowly and leave prominent scars. Skin manifestations in older patients include healed scars of old lesions in the cervical or inguinal areas or scars secondary to multiple surgical procedures performed to drain abscesses.

Associated chronic blepharoconjunctivitis and serosanguineous nasal discharge is often described.

Intraoral ulcerations are described in many patients. These ulcerations resemble aphthous stomatitis, chronic gingivitis, perioral ulcers, scalp folliculitis, chronic suppurative paronychia, or seborrheic dermatitis. Recurrent ulcerative stomatitis is present at some time in almost all patients with CGD.

Systemic findings are pronounced and include the following:

  • Hepatosplenomegaly
  • Osteomyelitis (particularly that caused by Aspergillus species)
  • Recurrent pneumonia with lung abscesses and granulomas (Pneumonia occurs in almost all affected children and may lead to abscess formation, cavitation, and empyema.) 
  • Gastrointestinal manifestations (eg, malabsorption, perianal abscesses and fistulae, oral ulceration, characteristic obstructive lesions associated with granulomatous infiltration) [24]
  • Hepatic (and perihepatic) abscesses (Patients usually present with fever, malaise, and weight loss.)  
  • Perirectal abscesses (can persist for years despite aggressive antimicrobial therapy and fastidious local care)

Mothers of affected boys with the most commonly involved gene often have Jessner lymphocytic infiltrate or discoid lupus erythematosus. In rare instances, systemic lupus erythematosus is reported.



Invasive aspergillosis and candidiasis may occur in patients with chronic granulomatous disease (CGD). Patients with chronic granulomatous disease can be sensitized to Aspergillus species. Allergic bronchopulmonary aspergillosis can develop.

Gastrointestinal complications include the following:

  • Enteritis and/or colitis
  • Crohn disease
  • Gastric outlet obstruction
  • Chronic gastrointestinal inflammation

Rheumatologic disorders include the following:

  • Discoid lupus erythematosus
  • Systemic lupus erythematosus
  • Raynaud syndrome
  • Nodular vasculitis
  • Juvenile rheumatoid arthritis
  • Immune-mediated thrombocytopenia

Other complications include the following:

  • Chorioretinitis
  • Obstruction of the urinary tract
  • Severe aphthous stomatitis
  • Granulomatous cheilitis