(Last Updated On: March 18, 2021)

Janelle G Go, MD, DPDS1, Melanie Joy Doria-Ruiz, MD, DPDS2, Daisy King-Ismael, MD,FPDS3

ABSTRACT

Introduction: Squamous cell carcinoma (SCC) is a rare complication of long-standing discoid lupus erythematosus
(DLE). The reported risk factors associated with the malignant transformation include chronic inflammation, scarring, immunosuppression, and the dysfunctional healing already evident in discoid lesions. If underdiagnosed and left untreated, this may lead to higher rates of recurrences, metastases and death.

Objective: The main objective of this article is to report the diagnosis and management of a DLE-associated SCC on the upper lip of an elderly Filipino female. A short discussion on the pathogenesis and treatment of this disease entity is also presented.ugs/topical medications, family history and accompanying systemic symptoms were reviewed and analyzed.

Case: A 78-year-old female, pawid maker, developed a rapidly growing verrucous tumor measuring 4.0 x 2.0 x 2.0 cm from a depigmented atrophic plaque located on the upper lip. Initial histopathologic findings were consistent with SCC and DLE. Considering the tumor size and the challenging anatomical location, the surgical oncology and plastic surgery team carried out a wide excision with 5 mm margin of the entire upper lip mass and surrounding plaque, followed by lip reconstruction. Biopsy findings of the excised mass were consistent with the initial findings. Three months post-operation, there was significant wound healing with no recurrences.

Conclusion: Although the incidence is rare, SCC occurring in DLE is considered to be high-risk and should warrant
early recognition and prompt treatment. In this paper, the authors also highlight the use of a standard wide excision in lieu of Mohs Microscopic Surgery as an alternative option where resources are limited.

Keywords: squamous cell carcinoma, discoid lupus erythematosus, wide excision, surgical flaps

1. Macfarlane, A. W., Chapman, S. J., Verbov, J. L. Is erythrokeratoderma one disorder? A clinical and ultrastructural study of two siblings. Brit. J. Derm. 1991;124: 487-491

2. Ishida-Yamamoto, A., McGrath, J. A., Lam, H., Iizuka, H., Friedman, R. A., Christiano, A. M.The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. Am. J. Hum. Genet. 1997;61: 581-589

3. Macari, F., Landau, M., Cousin, P., Mevorah, B., Brenner, S., Panizzon, R., Schorderet, D. F., Hohl, D., Huber, M. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am. J. Hum. Genet.
2000; 67: 1296-1301

4. Richard, G., Brown, N., Rouan, F., Van der Schroeff, J.-G., Bijlsma, E., Eichenfield, L. F., Sybert, V. P., Greer, K. E., Hogan, P., Campanelli, C., Compton, J. G., Bale, S. J., DiGiovanna, J. J., Uitto, J. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J. Invest. Derm. 2003;120: 601-609

5. Boyden, L. M., Craiglow, B. G., Zhou, J., Hu, R., Loring, E. C., Morel, K. D., Lauren, C. T., Lifton, R. P., Bilguvar, K., Yale Center for Mendelian Genomics, Paller, A. S., Choate, K. A.Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia. J. Invest. Derm. 2015;135: 1540-1547

6. Singzon, I.A., Vivar, N.C., Oblepias, M.S., Gabriel, M.T.G. A rare case of erythrokeratoderma variabilis. Journal of the Philippine Dermatologic Society. 2006;15:81-83,

7. Tournier, Emilie. Erythrokeratoderma variabilis progressiva. h t t p : / / w w w. o r p h a . n e t / c o n s o r / c g i b i n / D i s e a s e _ S e a r c h .
p h p ? l n g = E N & d a t a _ i d = 2 1 3 0 1 & D i s e a s e _ D i s e a s e _
S e a r c h _ d i s e a s e G r o u p = e r y t h r o k e r a t o d e r m a & D i s e a s e _
D i s e a s e _ S e a r c h _ d i s e a s e Ty p e = P a t & D i s e a s e ( s ) / g r o u p % 2 0
o f % 2 0 d i s e a s e s = E r y t h r o k e r a t o d e r m a – v a r i a b i l i s –
p r o g r e s s i v a & t i t l e = E r y t h r o k e r a t o d e r m a – v a r i a b i l i s July 2017; Accessed 5 Sept
2017.

8. Ishida-Yamamoto,A. Erythrokeratodermia variablis et progressiva. The Journal of Dermatology. 2016;43:280-285

9. Boyden, L.M, Craiglow, B.G, Zhou, J. Hu, Ronghua, Loring, E.C. Morel, K. Lauren, C. Lifton, R., Bilguvar, K., Paller, A.S, Choate, K.. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva,
without Features of Oculodentodigital Dysplasia. Journal of Investigative Dermatology. 2015; 135:1540-1547

10. Duchatelet, S., Hovanian, A., Erythrokeratodermia Variabilis et Progressiva Allelic to Oculo-dento-digital dysplasia. Journal of Investigative Dermatology 2015;135: 1475-1478

11. DiGiovanna, J., Mauro, T., Milstone, L.M., Schmuth, M., Toro, J. Systemic Retinoids in the Management of Icthyoses and Related Skin Types. Dermatology Therapeutics 2013;Jan-Feb:26(1):10

12. Cakmak, A., Baba, F., Shermatoy, K., Karazeybek, H. Treatment of Congenital Icthyosis with Acitretin. The Internet Journal of Pediatrics and Neonatology. 2007; 8:1

13. Saracoglu, ZN., Tekin, N., Uber, SM., Sabuncu, I., Aksit., A. Oral acitretin treatment in severe congenital icthyosis of the neonate. Turk J Pediatr. 2002; Jan-Mar; 44(1):61-4.

14. Gautam, M., Tahiliani, H. Nadkarni, N., Patil, S., Godse, K. Acitretin in Pediatric Dermatoses. Indian Journal of Paediatric Dermatology. 2016; Volume 17:Apr-Jun 2016: 87-94

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