Sections

Workup

Laboratory Studies

No specific tests are required to establish a diagnosis of basaloid follicular hamartoma (BFH) other than skin biopsy. However, given the association between multiple basaloid follicular hamartoma and autoimmune diseases such as systemic lupus erythematosus (SLE) and myasthenia gravis, a comprehensive history and physical examination should be performed. If the clinical index of suspicion for autoimmune disease is strong, the following laboratory tests may be ordered:

Antinuclear antibody testing
Double-stranded (ds) DNA antibody testing
Ro (ssA) and La (ssB) antibody testing
CBC count with differential
Urinalysis
Chemistry panel
Complement levels
Antiacetylcholine antibody testing

Patients may present clinically with nevoid basal cell carcinoma syndrome (NBCCS) with overlapping features of basaloid follicular hamartoma. To avoid excessive surgical treatment should the lesion be a benign basaloid follicular hamartoma, the identification of a de novo mutation of c.1291delC in the PTCH1 gene helps to confirm the diagnosis of nevoid basal cell carcinoma syndrome.^[43]

Imaging Studies

Imaging studies may be useful to distinguish patients with multiple basaloid follicular hamartoma (BFH) from those with nevoid basal cell carcinoma syndrome (NBCCS). Specifically, nevoid basal cell carcinoma syndrome patients may display odontogenic jaw keratocysts, intracranial calcification (eg, of the falx cerebri), and rib anomalies. The following specific studies may be obtained to identify patients suggested of having nevoid basal cell carcinoma syndrome:

Panorex films of the jaw
Skull radiography
Chest radiography

Other Tests

If the clinical index of suspicion is high that a patient with multiple basaloid follicular hamartoma (BFH) has myasthenia gravis, electromyography may be obtained.

Procedures

Skin biopsy is important for distinguishing basaloid follicular hamartoma (BFH) lesions from other lesions in the differential diagnoses.

Histologic Findings

The definitive diagnosis of basaloid follicular hamartoma (BFH) is based on histologic findings. Despite the wide range of clinical manifestations, the histologic features of basaloid follicular hamartoma are relatively consistent for all its forms.^{[44, 45, 46]}See the image below.

Basaloid follicular hamartoma. Courtesy of L Wozniak & KW Zielinski (own work), via Wikimedia Commons.

Anastomosing thick cords and thin strands of basaloid cells are localized to the superficial dermis.^{[17, 47]}In contrast, infundibulocystic basal cell carcinoma (BCC) may involve the subcutaneous fat and skeletal muscle.^[47]

Lesions of basaloid follicular hamartoma are unattached to the epidermis and extend from the infundibular portion of vellus hair follicles.^[22]

Mitoses and single cell necrosis are generally few, if at all present, in basaloid follicular hamartoma.^{[22, 23, 48]}A prominence of these findings is more consistent with basal cell carcinoma.^{[22, 23]}

The stroma in basaloid follicular hamartoma is mildly cellular and fibromyxoid.^{[17, 23]}The peritumoral stroma was found to have positive CD34 and CD10 staining.^{[39, 48, 49]}

Specific immunostaining studies may help to distinguish basaloid follicular hamartoma from basal cell carcinoma. Basaloid follicular hamartoma has a lower cell proliferative index of the proliferative cell nuclear antigen (PCNA) and Ki-67 compared with basal cell carcinoma.^{[22, 48]}Basaloid follicular hamartoma also has positive immunoreactivity to CK20 and plectin homology–like domain, family A, and member 1 protein (PHLDA1) that is typically negative in basal cell carcinoma.^[1]Bcl-2 is positive only within the outermost cells bordering the stroma in basaloid follicular hamartoma, in contrast to a significant bcl-2 expression found in the more aggressive forms of basal cell carcinoma.^{[39, 49, 50, 51]}Other positive stains that may be seen in basaloid follicular hamartoma are S100 in the epithelial nests and stroma and factor VIIIa in the dendritic cells adjacent to the epithelial nests.^[18]

Treatment & Management

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Media Gallery

Basaloid follicular hamartoma. Courtesy of L Wozniak & KW Zielinski (own work), via Wikimedia Commons.

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Author

Kara Melissa T Torres, MD, DPDS Visiting Research Fellow, Ackerman Academy of Dermatopathology

Kara Melissa T Torres, MD, DPDS is a member of the following medical societies: Philippine Dermatological Society

Disclosure: Nothing to disclose.

Coauthor(s)

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Rosalie Elenitsas, MD Herman Beerman Professor of Dermatology, University of Pennsylvania School of Medicine; Director, Penn Cutaneous Pathology Services, Department of Dermatology, University of Pennsylvania Health System

Rosalie Elenitsas, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, American Society of Dermatopathology, Pennsylvania Academy of Dermatology

Disclosure: Received royalty from Lippincott Williams Wilkins for textbook editor.

Chief Editor

Additional Contributors

Neil Shear, MD Professor and Chief of Dermatology, Professor of Medicine, Pediatrics and Pharmacology, University of Toronto Faculty of Medicine; Head of Dermatology, Sunnybrook Women's College Health Sciences Center and Women's College Hospital, Canada

Neil Shear, MD is a member of the following medical societies: Canadian Medical Association, Ontario Medical Association, Royal College of Physicians and Surgeons of Canada, Canadian Dermatology Association, American Academy of Dermatology, American Society for Clinical Pharmacology and Therapeutics

Disclosure: Nothing to disclose.

Acknowledgements

Anand Bansal, RPh University of Medicine and Dentistry of New Jersey School of Osteopathic Medicine

Disclosure: Nothing to disclose. Steven S Fakharzadeh, MD, PhD Associate Professor, Department of Dermatology, University of Pennsylvania School of Medicine

Steven S Fakharzadeh, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Society of Human Genetics, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

John T Seykora, MD, PhD Associate Professor, Department of Dermatology and Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine

John T Seykora, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Association for the Advancement of Science, American Society for Biochemistry and Molecular Biology, American Society of Dermatopathology, Dermatology Foundation, Phi Beta Kappa, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

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