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Special Feature
January 2000

Picture of the Month

Author Affiliations

From the Department of Dermatology, University of Virginia Health Sciences Center, Charlottesville (Dr Knoell); and the American Board of Pediatrics, Chapel Hill, NC (Dr Tunnessen).



Arch Pediatr Adolesc Med. 2000;154(1):85. doi:

A 7-YEAR-OLD developmentally and neurologically disabled boy developed numerous asymptomatic, flesh-colored papules on the skin of his chest, upper arms, and thighs over a 4-year period. His birth history was unremarkable. The family history was notable for the presence of a severe progressive neurological condition affecting a maternal uncle and a maternal male second cousin.

Findings on physical examination revealed striking dolichocephaly with coarse facial features. The forehead was prominent and the eyes symmetrically proptotic (Figure 1). Findings on oral examination showed an enlarged tongue and mild enamel defects of the teeth. The spleen was not palpable, but the liver edge was palpable 3 cm below the right costal margin. Severe claw-hand deformities were present (Figure 2) as well as a decreased range of motion of the elbows and knees and severe hip flexion contractures. The skin felt thickened and demonstrated hypertrichosis as well as groups of bilaterally symmetrical, firm, nontender, discrete, ivory-colored 0.3- to 0.5-cm-diameter papules over the chest, upper arms (Figure 3), scapulae, and thighs. No corneal clouding was present, but findings from auditory testing revealed a moderate to severe combined sensorineural and conductive hearing deficit.

A biopsy of normal-appearing skin, obtained for enzyme studies, revealed an absence of iduronate sulfatase.

Accepted for publication March 16, 1999.

Corresponding author: Keith A. Knoell, MD, 1928 Powell Creek Ct, Charlottesville, VA 22911.