Diagnose It: Basal Cell Carcinomas

NEWS/ QUIZ

2 MIN QUIZ

A 35-year-old White male is referred from his dermatologist to a Mohs surgeon for removal of 2 basal cell carcinomas (BBCs)—1 from his nose, and the second from his eyelid. In the last 15 years, the patient has had 3 BCCS removed from his body, including 1 before the age of 25. Upon performing an examination, the Mohs surgeon identifies multiple palmar pits (>2) on each hand. Visible scarring from cleft lip surgery is also present. As the patient was adopted, he is unsure of his biological parents’ health history.

Based on these features, the Mohs surgeon refers the patient to a genetic counselor to confirm a diagnosis.

What is the diagnosis?

Select the correct answer

Bazex syndrome

Rombo syndrome

Gorlin syndrome

Brooke-Spiegler syndrome

CORRECT

Scroll down to read the full answer.

INCORRECT

Scroll down to read the correct answer.

Answer is: C

BCCs are the most common skin cancers in persons of European ancestry.¹ BCCs are typically associated with exposure to ultraviolet radiation, either from years of sun exposure or from the increased use of tanning beds; however, BCCs before the age of 30 are rare and may be a sign of a genetic condition.

Gorlin syndrome, or basal cell nevus syndrome, is a rare, autosomal dominant disorder caused by a mutation in the hedgehog signaling pathway.^2,3 While Gorlin syndrome is heritable, spontaneous cases with no family history also occur.⁴ Up to 96% of individuals with Gorlin syndrome have had at least 1 BCC in their lifetime, with some individuals having thousands.^3,5

Although BCCs are the predominant manifestation of Gorlin syndrome, multiple BCCs are not enough for diagnosis. Patients must have 2 major diagnostic criteria and 1 minor diagnostic criteria, or 1 major and 3 minor diagnostic criteria, as shown in the below table.⁶

Major diagnostic criteria	Minor diagnostic criteria
Multiple BCCs (>5) or a BCC before age 30 Lamellar calcification of the falx Jaw keratocyst Palmar/plantar pits (≥2) First-degree relative with Gorlin syndrome	Macrocephaly (OFC > 97th percentile) Cleft lip/palate Childhood medulloblastoma Pleural or lymphomesenteric cysts Vertebral and/or rib anomalies (eg, extra ribs) Preaxial or postaxial polydactyly Ovarian/cardiac fibroma Ocular anomalies (eg, cataracts)

References:

1) Lear JT, Tan BB, Smith AG, et al. Risk factors for basal cell carcinoma in the UK: case-control study in 806 patients. J R Soc Med. 1997;90(7):371-374. doi:10.1177/014107689709000704

2) Spiker AM, Troxell T, Ramsey ML. Gorlin syndrome. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. https://www.ncbi.nlm.nih.gov/books/NBK430921/. Accessed March 11, 2022.

3) Jones EA, Sajid MI, Shenton A, Evans DG. Basal cell carcinomas in Gorlin syndrome: a review of 202 patients. J Skin Cancer. 2011;2011:217378. doi:10.1155/2011/217378

4) Gorlin Syndrome Alliance. About Gorlin syndrome. Accessed March 10, 2022. https://gorlinsyndrome.org/about-gorlin-syndrome/#:~:text=In%20most%20cases%2C%20Gorlin%20syndrome,chance%20of%
20inheriting%20the%20disease.

5) Solis DC, Kwon GP, Ransohoff KJ, et al. Risk factors for basal cell carcinoma among patients with basal cell nevus syndrome: development of a basal cell nevus syndrome patient registry. JAMA Dermatol. 2017;153(2):189-192. doi:10.1001/jamadermatol.2016.4347

6) Evans DG, Farndon PA. Nevoid basal cell carcinoma syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]; Seattle (WA):University of Washington, Seattle; 2002. https://pubmed.ncbi.nlm.nih.gov/20301330/. Updated March 29, 2018. Accessed March 11, 2022.

YOU MIGHT ALSO LIKE

Dermatologists are talking…

Explanation

YOU MIGHT ALSO LIKE

Dermatologists are talking…