Skin features in myotonic dystrophy type 1: an observational study

Area of Science:

• Dermatology
• Genetics
• Neurology

Background:

• Limited data exists on skin manifestations in Myotonic Dystrophy type 1 (DM1).
• Understanding DM1's cutaneous involvement is crucial for comprehensive patient care.

Purpose of the Study:

• To determine the prevalence and types of skin disorders in adult DM1 patients.
• To compare skin findings in DM1 patients with age- and sex-matched healthy controls.

Main Methods:

• A cohort of 55 adult DM1 patients and 100 healthy controls underwent dermatological examination.
• Skin examinations assessed for preneoplastic, neoplastic, and various other cutaneous lesions.

Main Results:

• No significant difference in preneoplastic or neoplastic skin lesions between groups.
• DM1 patients exhibited higher frequencies of focal hyperhidrosis, follicular hyperkeratosis, early androgenic alopecia, nail pitting, pedunculus fibromas, twisted hair, seborrheic dermatitis, and hyperpigmentation macules.
• Early androgenic alopecia, twisted hair, and seborrheic dermatitis were more prevalent in male DM1 patients.

Conclusions:

• DM1 in adults is not associated with an increased risk of pre-neoplastic or neoplastic skin lesions.
• DM1 is characterized by a higher prevalence of morphofunctional, inflammatory, and proliferative conditions affecting skin adnexal structures.