JOURNAL ARTICLE

Pebbling of the skin: a marker of Hunter's syndrome

D M Thappa, A Singh, T J Jaisankar, R Rao, C Ratnakar
Pediatric Dermatology 1998, 15 (5): 370-3
9796587
A 9-year-old boy, the third child of nonconsanguinous parents, presented with asymptomatic, solid, raised skin lesions over the upper back. They first appeared at the age of 4 years. Gradually similar lesions appeared over the chest, neck, arms, and thighs. On examination, he had firm, hypopigmented to skin-colored papules and nodules which coalesced to form ridges in a reticular pattern (pebbling of the skin) and were arranged bilaterally and symmetrically over the scapulae, pectoral region of the chest, and lateral aspects of the arms and thighs. They resembled sulci and gyri of the brain. He had normal intelligence, short stature, coarse facial features, thick lips, a large tongue, clear corneas, a protuberant abdomen with hepatosplenomegaly, and broad hands with clawlike contractures of the distal interphalangeal joints. Investigations revealed cardiomegaly and proximal tapering of metacarpal bones. Although peripheral blood smear and urine spot test for mucopolysaccharides were negative, histopathology of a representative skin lesion was compatible with the diagnosis of Hunter's syndrome. The case is reported for its rarity and the typical skin lesions, the recognition of which may be helpful in diagnosis and genetic counseling.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Trending Papers

Remove bar
Read by QxMD icon Read
9796587
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.