Skin, Hair, and Muscle Symptoms in POIKTMP

Because POIKTMP is a multisystem condition, it can affect the body in several ways that are visible to the eye or affect how you move. In the early years, the most common changes occur in the skin, hair, and muscles. Understanding these manifestations can help you work with your care team to manage symptoms safely and support mobility.

Skin and Sweat: Early Visible Signs

The “POIK” in POIKTMP stands for poikiloderma, a specific pattern of skin changes that is often the first sign of the condition.

• Poikiloderma: This typically appears in infancy or early childhood, sometimes as early as 14 months of age ^[1]. It is characterized by a “mottled” or net-like appearance consisting of three features: atrophy (thinning of the skin), telangiectasia (small, visible blood vessels), and patches of both light and dark coloring (hypopigmentation and hyperpigmentation) ^[2][3]. These changes often start on the face and can progress to the trunk and limbs ^[1].
• Hypohidrosis (Reduced Sweating): Approximately 75% of individuals with POIKTMP have a reduced ability to sweat ^[4]. Because sweating is the body’s primary way of cooling down, individuals with hypohidrosis may overheat easily. It is vital to create a concrete heat-safety plan: stay in cool environments, ensure hydration, modify activity levels during warm weather, and watch for signs of heat illness like confusion, fainting, or severe fatigue ^[2][4].
• Hair Changes: Most individuals (about 86%) experience hair thinning (hypotrichosis) or total hair loss (alopecia) ^[4]. This can affect the scalp, eyebrows, and eyelashes ^[2].

Muscle and Tendon: Managing Movement

As you or your child grows, the condition may affect muscles and tendons, particularly in the lower legs. This can impact how you walk and overall physical endurance.

Tendon Contractures

A contracture means restricted joint movement, which can involve muscle, tendon, fascia, or the joint itself. In POIKTMP, this most commonly affects the triceps surae—the group of muscles in the calf that connect to the heel via the Achilles tendon ^[2].

• When these calf tendons tighten, it can become difficult to keep the feet flat on the ground, often leading to “toe-walking” ^[5].
• These contractures can be progressive, meaning they may become more severe over time if not safely managed ^[5][6].

Progressive Muscle Weakness

In addition to tight tendons, many experience myopathy, or muscle weakness. This weakness is often diffuse, meaning it affects muscles throughout the body, and it can progress over time ^[2].

• Fibroadipose Replacement: If a muscle MRI is performed, the report may mention “fibroadipose replacement.” This means that some of the healthy muscle tissue is being replaced by fat and fibrous tissue ^[5][2].
• Interestingly, imaging sometimes shows more muscle involvement than is apparent during a physical exam, meaning the muscles may look more affected on a scan than they seem in daily life ^[7].

The Role of Physical Therapy

While there is currently no cure to stop the underlying progression of POIKTMP, physical therapy is the cornerstone of managing the musculoskeletal symptoms, focusing on function, safety, and energy management ^[8].

• Range of Motion: Gentle, individualized movement exercises can help maintain flexibility in the ankles ^[9]. However, care must be taken to avoid forceful stretching, overwork, or exhausting exercise in the setting of myopathy.
• Functional Strength: A physical therapist can design safe exercises that help maintain the strength needed for daily activities, like standing up from a chair or climbing stairs ^[10].
• Supportive Devices: In some cases, a therapist may recommend orthoses (braces), such as ankle-foot orthoses (AFOs), to help support the foot and improve the walking pattern safely ^[9].
• Orthopedic Consultation: If contractures become severe and significantly limit walking, a specialized team may be consulted to discuss options such as surgical tendon lengthening procedures ^[11].

Early and individualized intervention with a physical therapy team is highly recommended to help navigate these changes and stay active for as long as possible ^[8][12].