Ivory-Colored Papules in a Young Boy
Zivony, Daniel I.;Spencer, David M.;Qualman, Stephen J.;Bechtel, Mark
1995-01-01 00:00:00
Abstract REPORT OF A CASE A 6.5-year-old Arabic boy was referred to the genetics clinic at age 24 months for evaluation of dysmorphic facial features and recurrent upper respiratory tract infections. The patient had reached all developmental milestones without delay. He was currently in the first grade and exhibited no gross or fine motor handicaps. The patient's 4.5-year-old brother had the same syndrome.For age, the patient's height was less than the fifth percentile, his weight in the 75th percentile, and his head circumference in the 95th percentile. Multiple, ivory-colored papules (<0.5 cm) were observed over and between both scapulae (Figure 1). The patient also presented with dry, coarse, thickened skin and truncal hypertrichosis. Frontal bossing, large thickened eyebrows, a flat nasal bridge, and micrognathia were all noted. He had small permanent teeth and a large protruding tongue. His abdomen was protuberant and the liver span was 8 cm, consistent with References 1. Neufeld EF, Muenzer J. The mucopolysaccharide storage disease . In Scriver CR, Beaudet AV, Sly WS, et al, eds. The Metabolic Basis of Inherited Disease . 6th ed. New York, NY: McGraw-Hill International Book Co; 1989:1565. 2. Young ID, Harper PS. Incidence of Hunter's syndrome . Hum Genet. 1982;60: 391-392.Crossref 3. Schaap T, Bach G. Incidence of mucopolysaccharidoses in Israel: is Hunter's syndrome a Jewish disease? Hum Genet. 1980;56:221.Crossref 4. Muenzer J. Mucopolysaccharidoses . Adv Pediatr. 1986;33:269-286. 5. Mallory S, Krafchik B. Hunter syndrome (mucopolysaccharidosis) . Pediatr Dermatol. 1991;7:150. 6. Prystowsky S, Maumenee I, Freeman R, et al. A cutaneous marker in Hunter's syndrome . Arch Dermatol. 1977;113:602-605.Crossref 7. Spranger J, Cantz M, Gehler J. Mucopolysaccharidosis II (Hunter's disease) with corneal opacities . Eur J Pediatr. 1978;129:11-16.Crossref
http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.pngArchives of DermatologyAmerican Medical Associationhttp://www.deepdyve.com/lp/american-medical-association/ivory-colored-papules-in-a-young-boy-i3F9XBTfNu
Abstract REPORT OF A CASE A 6.5-year-old Arabic boy was referred to the genetics clinic at age 24 months for evaluation of dysmorphic facial features and recurrent upper respiratory tract infections. The patient had reached all developmental milestones without delay. He was currently in the first grade and exhibited no gross or fine motor handicaps. The patient's 4.5-year-old brother had the same syndrome.For age, the patient's height was less than the fifth percentile, his weight in the 75th percentile, and his head circumference in the 95th percentile. Multiple, ivory-colored papules (<0.5 cm) were observed over and between both scapulae (Figure 1). The patient also presented with dry, coarse, thickened skin and truncal hypertrichosis. Frontal bossing, large thickened eyebrows, a flat nasal bridge, and micrognathia were all noted. He had small permanent teeth and a large protruding tongue. His abdomen was protuberant and the liver span was 8 cm, consistent with References 1. Neufeld EF, Muenzer J. The mucopolysaccharide storage disease . In Scriver CR, Beaudet AV, Sly WS, et al, eds. The Metabolic Basis of Inherited Disease . 6th ed. New York, NY: McGraw-Hill International Book Co; 1989:1565. 2. Young ID, Harper PS. Incidence of Hunter's syndrome . Hum Genet. 1982;60: 391-392.Crossref 3. Schaap T, Bach G. Incidence of mucopolysaccharidoses in Israel: is Hunter's syndrome a Jewish disease? Hum Genet. 1980;56:221.Crossref 4. Muenzer J. Mucopolysaccharidoses . Adv Pediatr. 1986;33:269-286. 5. Mallory S, Krafchik B. Hunter syndrome (mucopolysaccharidosis) . Pediatr Dermatol. 1991;7:150. 6. Prystowsky S, Maumenee I, Freeman R, et al. A cutaneous marker in Hunter's syndrome . Arch Dermatol. 1977;113:602-605.Crossref 7. Spranger J, Cantz M, Gehler J. Mucopolysaccharidosis II (Hunter's disease) with corneal opacities . Eur J Pediatr. 1978;129:11-16.Crossref
Journal
Archives of Dermatology
– American Medical Association
Published: Jan 1, 1995
Recommended Articles
Loading...
References
The Metabolic Basis of Inherited Disease
Neufeld EF, Muenzer J
Incidence of Hunter's syndrome
Young ID, Harper PS
Incidence of mucopolysaccharidoses in Israel: is Hunter's syndrome a Jewish disease?
Schaap T, Bach G
Mucopolysaccharidoses
Muenzer J
Hunter syndrome (mucopolysaccharidosis)
Mallory S, Krafchik B
A cutaneous marker in Hunter's syndrome
Prystowsky S, Maumenee I, Freeman R, et al
Mucopolysaccharidosis II (Hunter's disease) with corneal opacities
Spranger J, Cantz M, Gehler J
You’re reading a free preview. Subscribe to read the entire article.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”
Daniel C.
“Whoa! It’s like Spotify but for academic articles.”
@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”
@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”
To get new article updates from a journal on your personalized homepage, please log in first, or sign up for a DeepDyve account if you don’t already have one.
Our policy towards the use of cookies
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.