Photo Quiz
Eczematous Skin Lesions in an Infant
Am Fam Physician. 2009 Jul 15;80(2):191-193.
An 11-month-old boy presented with recurrent fever, petechial and infected cutaneous lesions that sometimes decreased in number, diarrhea, and purulent otitis. These symptoms had persisted since his first month of life. The patient was in poor general condition with erythematous, desquamative, plaque-like lesions on his entire body, including his scalp; hemorrhagic lesions on the mucosal sites; and candidiasis on his tongue (see accompanying figure). The membrane of his right ear was perforated, and purulent discharge was detected on the external auditory canal.
The child's height was 26 in (65 cm); his weight was 11 lb, 4 oz (5.1 kg); and his head circumference was 16 in (41 cm). Laboratory studies revealed a hemoglobin level of 9 g per dL (90 g per L), platelet count of 45,000 to 52,000 per mm3 (45 to 52 × 109 per L), and mean platelet volume of 4.6 to 7.0 fL. The C-reactive protein level was 1,910 mg per L (18,190 nmol per L), the erythrocyte sedimentation rate was 73 mm per hour, and the albumin level was 1.9 g per dL (19 g per L). Immunoglobulin tests showed a lower IgM level, and an elevated IgE level of 2,380 mcg per L (2.38 mg per L). The complement C3 and C4 levels were within normal limits. The prothrombin time was 15.5 seconds, the activated partial thromboplastin time was 33.8 seconds, and the serum zinc level was within the normal limit. Staphylococcus aureus was isolated in the blood culture.
The patient had two healthy siblings, but one male sibling with the same symptoms who died at 11 months of age. The patient also died after four days of hospitalization.
Question
Based on the patient's history, physical examination, and laboratory findings, which one of the following is the most likely diagnosis?
A. Acrodermatitis enteropathica.
B. Atopic dermatitis.
C. Job syndrome.
D. Omenn syndrome.
E. Wiskott-Aldrich syndrome.
Discussion
The correct answer is E: Wiskott-Aldrich syndrome. Wiskott-Aldrich syndrome is an X-linked, primary immunodeficiency disease with a prevalence of about four in 1 million. The syndrome was originally described as a clinical triad of immunodeficiency, eczema, and thrombocytopenia with small platelets.1 Bleeding episodes or symptoms of infection typically begin during the first six months of life. Although many patients with Wiskott-Aldrich syndrome present with all three of the typical clinical manifestations, others have a partial or variant phenotypic presentation. Because of the wide spectrum of clinical findings, the diagnosis relies on genetic analysis or the determination of protein expression with a specific antibody.2
Infants with eczema related to Wiskott-Aldrich syndrome have pruritus; exudative lesions; xerosis of the skin; and scaling and lichenification localized to the face, legs, and trunk. Eczema of complicated etiology is a characteristic finding at diagnosis.3,4
The patient was definitively diagnosed with Wiskott-Aldrich syndrome because he is a boy; his presentation included recurrent infections, eczematiform skin lesions, thrombocytopenia, decreased mean platelet volume, and increased IgE levels; and his brother, who also died, had similar clinical findings. Wiskott-Aldrich syndrome should be considered in boys who have atopic dermatitis–like lesions and recurrent infections.
Acrodermatitis enteropathica is a rare hereditary disorder affecting zinc metabolism. It is characterized by dermatitis, alopecia, gastrointestinal disturbances, eye infections, and failure to thrive.5
Atopic dermatitis is a chronic, recurrent skin disorder. Pruritus, inflammation, crusted lesions, and lichenification are typical characteristics.6 It is common in flexural areas and on the cheeks and buttocks. Atopic dermatitis is not consistent with severe recurrent infections, immunodeficiency, and thrombocytopenia.
Job syndrome is a rare immune disorder characterized by atopic dermatitis–like skin lesions, elevated serum IgE level, recurrent skin and respiratory tract infections, and skeletal abnormalities. An elevated IgE level and peripheral eosinophilia are the most common findings in patients with this disorder.7
Omenn syndrome is an autosomal recessive, fatal condition characterized by profound susceptibility to infection with T-cell infiltration of the skin, intestines, liver, and spleen. This leads to an exfoliative erythroderma, lymphadenopathy, hepatosplenomegaly, alopecia, profound eosinophilia, and persistent diarrhea.8,9
Differential Diagnosis of Eczematous Skin Lesions in an Infant
| Disease | Age of onset | Localization | Lesions | Thrombocytopenia | IgE level | Systemic symptoms | Course |
|---|---|---|---|---|---|---|---|
Acrodermatitis enteropathica | Between a few weeks and20 months | Mouth and nose, perineum, acral surfaces | Vesiculation and erosions | No | Normal | No | Generally good |
Atopic dermatitis | Usually during the first five years | Infants: cheeks, wrists, extensor surfaces of the arms and legs Children: flexor surfaces | Erythematous, papulovesicular | No | Increased | No | Generally good |
Job syndrome | Early childhood | Scalp, face, groin, flexural areas | Erythematous, papulovesicular, abscess | No | Very high | Yes | Generally good |
Omenn syndrome | Median age is four weeks | Generalized dermatitis | Erythematous, scaly rash | No | Increased | Yes | Generally poor |
Wiskott-Aldrich syndrome | During the first six months (generally occurs in boys) | Usually the face, scalp, and flexural areas | Erythematous, papulovesicular | Yes | Increased | Yes | Generally poor |
IgE = immunoglobulin E.
Differential Diagnosis of Eczematous Skin Lesions in an Infant
| Disease | Age of onset | Localization | Lesions | Thrombocytopenia | IgE level | Systemic symptoms | Course |
|---|---|---|---|---|---|---|---|
Acrodermatitis enteropathica | Between a few weeks and20 months | Mouth and nose, perineum, acral surfaces | Vesiculation and erosions | No | Normal | No | Generally good |
Atopic dermatitis | Usually during the first five years | Infants: cheeks, wrists, extensor surfaces of the arms and legs Children: flexor surfaces | Erythematous, papulovesicular | No | Increased | No | Generally good |
Job syndrome | Early childhood | Scalp, face, groin, flexural areas | Erythematous, papulovesicular, abscess | No | Very high | Yes | Generally good |
Omenn syndrome | Median age is four weeks | Generalized dermatitis | Erythematous, scaly rash | No | Increased | Yes | Generally poor |
Wiskott-Aldrich syndrome | During the first six months (generally occurs in boys) | Usually the face, scalp, and flexural areas | Erythematous, papulovesicular | Yes | Increased | Yes | Generally poor |
IgE = immunoglobulin E.
REFERENCES
show all references1. Ochs HD, Rosen FS. The Wiskott-Aldrich syndromeIn:Ochs HD, Smith CI, Puck JM. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. New York, NY: Oxford University Press; 1999;292–305....
2. Yamada M, Ohtsu M, Kobayashi I, et al. Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers. Blood. 1999;93(2):756–757.
3. Orange JS, Stone KD, Turvey SE, Krzewski K. The Wiskott-Aldrich syndrome. Cell Mol Life Sci. 2004;61(18):2361–2385.
4. Notarangelo LD, Mori L. Wiskott-Aldrich syndrome: another piece in the puzzle. Clin Exp Immunol. 2005;139(2):173–175.
5. Perafán-Riveros C, França LF, Alves AC, Sanches JA Jr. Acrodermatitis enteropathica: case report and review of the literature. Pediatr Dermatol. 2002;19(5):426–431.
6. Williams H, Robertson C, Stewart A, et al. Worldwide variations in the prevalence of symptoms of atopic eczema in the International Study of Asthma and Allergies in Childhood. J Allergy Clin Immunol. 1999;103(1 pt 1):125–138.
7. DeWitt CA, Bishop AB, Buescher LS, Stone SP. Hyperimmunoglobulin E syndrome: two cases and a review of the literature. J Am Acad Dermatol. 2006;54(5):855–865.
8. Puzenat E, Rohrlich P, Thierry P, et al. Omenn syndrome: a rare case of neonatal erythroderma. Eur J Dermatol. 2007;17(2):137–139.
9. Aleman K, Noordzij JG, de Groot R, van Dongen JJ, Hartwig NG. Reviewing Omenn syndrome. Eur J Pediatr. 2001;160(12):718–725.
Contributing editor for Photo Quiz is John E. Delzell, Jr., MD, MSPH.
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