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Dermatology

Long History of Multiple Painless Scalp Nodules in a Middle-aged Woman

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.

1 Credit CME

JAMA Dermatology

Published Online: March 1, 2023

JAMA Dermatology Clinicopathological Challenge

Article Information and Disclosures

Yue-hua Li, MD¹;

Cheng-jiang Wei, MD, PhD¹;

Zhi-chao Wang, MD, MPH¹

Author Affiliations

¹Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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A woman in her late 40s was admitted to the hospital with a 40-year history of multiple hard nodules on the scalp. At 5 years of age, the patient had developed multiple subcutaneous masses in the occipital and bilateral temporal regions. At age 10, she was diagnosed with neurofibromatosis and underwent surgical resection of the tumors at a local hospital. Tumors recurred 5 years after surgery, with their size and number gradually increasing with age. Physical examination revealed scalp masses from 4 to 6 cm in diameter, with hard textures and smooth surfaces (Figure, A), and subcutaneous nodules of 1 × 1 cm to 2 × 2 cm with hard textures on the hands (Figure, B), feet, trunk, and lower extremities. The patient had no tenderness, swelling, or other skin manifestations. The patient had consanguineous parents, but no other family member, including her children, had the disease.

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D. Juvenile hyaline fibromatosis

Saline was injected between the masses and thin scalp to protect the subdermal vascular network from surgery-related mechanical damage and to avoid serious scalp necrosis after surgery. Pathologic examination of the scalp masses showed a large amount of homogeneous eosinophilic vitreous matrix with scattered focal fibroblasts (Figure, C and D). No basophilic spherules were identified in tissue sections. Immunohistochemistry staining results were positive for vimentin, and negative for SOX10, S-100, and spinal muscular atrophy proteins. A whole-genome exome sequencing of surgical tissue showed a novel homozygous variation of ANTXR2 (chr4:80905 045, nm_058172; exon 14, c.1166t > g (p.i389s)), which belongs to class IV (missense variations in cytosolic tail¹), confirmed by Sanger sequencing. Given that only subcutaneous nodules were present, the diagnosis was hyaline fibromatosis, grade 1.¹

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Article Information

Corresponding Author: Zhi-chao Wang, MD, MPH, Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, 639 Zhizaoju Rd, Shanghai 200011, China (wangzhichao@sh9hospital.org.cn).

Published Online: March 1, 2023. doi:10.1001/jamadermatol.2023.0024

Conflict of Interest Disclosures: None reported.

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

Funding/Support: This work was supported by grants from the National Natural Science Foundation of China (No. 82172228).

Role of the Funder/Sponsor: The funder had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

References

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AMA CME Accreditation Information

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 CME points in the American Board of Surgery’s (ABS) Continuing Certification program

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