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Skin

Myotonic dystrophy (DM) can affect the skin in a variety of ways. People with DM1 have a higher risk of developing pilomatrixomas—benign skin tumors that commonly appear as firm lumps under the skin of the head or neck and can be treated with surgical removal. In DM2, hormonal or follicular changes may contribute to hair loss and other skin conditions such as seborrheic dermatitis or atypical moles. In congenital DM, reduced movement can increase the risk of pressure-related skin injuries, making careful skin care and repositioning important.

Quick facts

Higher risk of benign skin tumor (pilomatrixoma)
Alopecia
Dysplastic nevi
Seborrheic dermatitis

Skin – DM1

Patterns:

  • People with myotonic dystrophy DM1 have an increased frequency of pilomatrixoma, a type of benign skin tumor. This type of tumor is rare in the general population but fairly common in people with myotonic dystrophy DM1

Symptoms:

  • Pilomatrixomas often occur around the head or neck and feel like firm lumps just beneath the surface of the skin. Some researchers have suggested that DM1 may also be associated with an increased frequency of other types of tumors, such as tumors of the parathyroid, pituitary, or thymus glands. However, at this point there is no clear evidence to support this idea.

Treatment:

  • These tumors are benign and can be cured by surgical removal.

Skin – DM2

Patterns:

  • Hormonal imbalance or underlying problems with skin and hair follicles may contribute to alopecia and other skin conditions in such as, dysplastic nevi and seborrheic dermatitis.

Skin – CDM

Treatment:

  • Prevent skin pressure injuries by frequent repositioning and avoidance of pressure points in cribs or car seats for infants with reduced movement resulting from severe weakness.

Tumors

People with myotonic dystrophy DM1 have an increased frequency of pilomatrixoma, a type of benign skin tumor. This type of tumor is rare in the general population but fairly common in people with myotonic dystrophy DM1. (No association between pilomatrixomas and DM2 has been reported).

Pilomatrixomas often occur around the head or neck and feel like firm lumps just beneath the surface of the skin. These tumors are benign and can be cured by surgical removal. Some researchers have suggested that DM1 may also be associated with an increased frequency of other types of tumors, such as tumors of the parathyroid, pituitary, or thymus glands. However, at this point there is no clear evidence to support this idea.

How DM affects other body systems

Central nervous system

Genetics

Cardiovascular system

Respiratory system

Immune system

Reproductive system

Gastrointestinal system

Muscles

Endocrine

Vision