Pigmentation Phenotype, Photosensitivity and Skin Neoplasms in Patients with Myotonic Dystrophy

Overview

Journal Eur J Neurol

Publisher Wiley

Specialty Neurology

Date 2017 Mar 21

PMID 28317292

Citations 10

Authors

S M Gadalla

J E Hilbert

W B Martens

S Givens

R T Moxley 3rd

M H Greene

Affiliations

Soon will be listed here.

Abstract

Background And Purpose: Recent studies have suggested a possible excess risk of skin neoplasms in patients with myotonic dystrophy (DM). Risk factors related to this observation have not been defined.

Method: Information regarding personal history of skin tumors, pigmentation phenotype, and skin reaction to sun exposure were collected from 266 DM patients who were enrolled in the US National Institutes of Health National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members.

Results: Seventy-seven subjects reported having skin tumors that were either benign (n = 31), malignant (n = 32) or both (n = 14). Female gender [odds ratio (OR) = 2.27, 95% confidence interval (CI) 1.02-5.05, P = 0.04], older age (OR = 1.10, 95% CI 1.05-1.16, P < 0.001) and DM1 subtype (OR = 3.42, 95% CI 1.27-9.26, P = 0.02) were associated with a malignant skin tumor. The associations between malignant skin tumors and known risk factors [light eye color (OR = 1.62, 95% CI 0.78-3.39, P = 0.20), light skin complexion (OR = 1.31, 95% CI 0.63-2.73, P = 0.48) and moderate/extensive face freckles (OR = 1.47, 95% CI 0.50-4.34, P = 0.49)] were modest. Strong, but not statistically significant, associations were noted with sunburn reactions when exposed to sunlight (OR = 4.28, 95% CI 0.91-19.95, P = 0.06, and OR = 2.19, 95% CI 0.67-7.09, P = 0.19, for sunburn with and without blistering, respectively).

Conclusions: Although our study was limited by small sample size, the risk factors for malignant skin tumors in DM strongly resemble the general population. It is recommended that DM patients adhere to sun exposure protective behavior.

Citing Articles

Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy: A Register-Based Cohort Study.

Maya-Gonzalez C, Tettamanti G, Taylan F, Nordenvall A, Sejersen T, Nordgren A Neurology. 2024; 103(8):e209883.

PMID: 39298705 PMC: 11446166. DOI: 10.1212/WNL.0000000000209883.

Frequency and type of cancers in myotonic dystrophy: A retrospective cross-sectional study.

DAmbrosio E, Chuang K, David W, Amato A, Gonzalez-Perez P Muscle Nerve. 2023; 68(2):142-148.

PMID: 36790141 PMC: 11521420. DOI: 10.1002/mus.27801.

Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype.

Rubben A, Wahl R, Eggermann T, Dahl E, Ortiz-Bruchle N, Cacchi C PLoS One. 2020; 15(3):e0230003.

PMID: 32155193 PMC: 7064234. DOI: 10.1371/journal.pone.0230003.

RARE MUTATION IN A PATIENT WITH MYOTONIC DYSTROPHY TYPE 1 AND ADRENOCORTICOTROPIN HYPERRESPONSE TO CORTICOTROPIN-RELEASING HORMONE.

Cantara S, Chiofalo F, Ciuoli C, Marzocchi C, Dotti M, Carla M AACE Clin Case Rep. 2020; 5(2):e132-e137.

PMID: 31967018 PMC: 6873866. DOI: 10.4158/ACCR-2018-0382.

Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries.

Higgs C, Hilbert J, Wood L, Martens W, Marini-Bettolo C, Nikolenko N Front Neurol. 2019; 10:1071.

PMID: 31681146 PMC: 6797599. DOI: 10.3389/fneur.2019.01071.

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