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Hunter Syndrome

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1 Credit CME

A 5-year-old boy who was born of nonconsanguineous parentage presented with hypertrichosis and papulonodular lesions on the posterior trunk that had developed at birth and age 1 year, respectively. Cutaneous examination revealed multiple symmetric, skin-colored papulonodules overlying the scapulae and posterior shoulders that gave the appearance of pebbled skin (Figure). In addition to generalized hypertrichosis, physical examination revealed short stature, macrocephaly, coarse facial features (including synophrys), macroglossia, hepatomegaly, and multiple joint contractures. Medical history was notable for developmental delay and hearing deficits. Surgical history was notable for repair of umbilical and inguinal hernias at age 2 years. Family history was noncontributory. A biopsy specimen from a papule on the back revealed extensive deposition of mucin throughout the dermis, separating the collagen bundles. Enzyme analysis revealed low serum iduronate-2-sulphatase (IDS) levels (5.06 nmol/4 hours/mL; normal range, 167-475 nmol/4 hours/mL) and normal total hexosaminidase levels (1124 nmol/hour/mL; normal range, 800-1600 nmol/hour/mL). Two-dimensional echocardiography results showed moderate mitral regurgitation. With this constellation of clinical and laboratory features, a diagnosis of mucopolysaccharidosis type 2 (MPS 2; Hunter syndrome) was established. Molecular genetic testing was not available.

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Article Information

Corresponding Author: Piyush Kumar, MD, Dermatology, Madhubani Medical College and Hospital, Madhubani 847212, India (docpiyush99@gmail.com).

Published Online: October 19, 2022. doi:10.1001/jamadermatol.2022.4049

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient’s father for granting permission to publish this information.

References
1.
Hashmi  MS , Gupta  V . Mucopolysaccharidosis type II. Accessed November 20, 2021. https://www.ncbi.nlm.nih.gov/books/NBK560829/.
2.
Wraith  JE , Scarpa  M , Beck  M ,  et al.  Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.   Eur J Pediatr. 2008;167(3):267-277. doi:10.1007/s00431-007-0635-4PubMedGoogle ScholarCrossref
3.
Mohamed  S , He  QQ , Singh  AA , Ferro  V .  Mucopolysaccharidosis type II (Hunter syndrome): clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment.   Adv Carbohydr Chem Biochem. 2020;77:71-117. doi:10.1016/bs.accb.2019.09.001PubMedGoogle ScholarCrossref
4.
Srinivas  SM , Maganthi  M , Sanjeev  GN .  Pebbling of skin: Cutaneous marker of Hunter syndrome.   Indian Dermatol Online J. 2017;8(1):62-63. doi:10.4103/2229-5178.198772PubMedGoogle ScholarCrossref
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Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

  • 1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
  • 1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
  • 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
  • 1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
  • 1.00 credit toward the CME [and Self-Assessment requirements] of the American Board of Surgery’s Continuous Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.

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