Widespread papular eruption in an infant

Sporadic Blau syndrome treated with adalimumab

“…This case highlights the challenge of diagnosing a widespread, dermal, noncaseating granulomatous rash in a child . Differentiating these conditions presents a diagnostic challenge for clinicians . Although these entities are extremely rare, early‐onset sarcoidosis and BS can affect a number of organ systems .…”

“…A 4‐month‐old girl presented with intermittent erythematous papules on her face and limbs, initially suggestive of papular urticaria . There were no cats or dogs at home nor any animal contact through family or friends.…”

“…The differential diagnosis for this histological finding includes primary immunodeficiency, tuberculosis, tuberculoid leprosy, early‐onset sarcoidosis and BS. Both early‐onset sarcoidosis and BS are characterized by a triad of dermatitis, arthritis and uveitis, usually in the absence of significant lung disease . The skin condition can be transient, and the literature for the management of refractory dermatitis is relatively limited .…”

“…Both early‐onset sarcoidosis and BS are characterized by a triad of dermatitis, arthritis and uveitis, usually in the absence of significant lung disease . The skin condition can be transient, and the literature for the management of refractory dermatitis is relatively limited . BS is associated with the NOD2 mutation on chromosome 16, and this defines the disease.…”

“…Our patient has a novel mutation, which has not previously been correlated with severe skin disease. BS may occur either sporadically or may be familial, with autosomal dominant inheritance.…”