Skin problems

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A Case of Myotonic Dystrophy Complicated with
Raynaud’s Phenomenon

S. Fujimaki, A. Kurihara, K. Tamura and Z. Shiozawa

We reported a case of myotonic dystrophy complicated with Raynaud’s phenomenon. The patient was a 66-year-old male, who was admitted to our hospital with complaints of muscle atrophy, general fatigue and coldness of the hands. He noted muscle power loss about 20-years ago and later developed felt urinary incontinence, constipation, dysphagia, hoarseness and muscle atrophy. The diagnosis of myotonic dystrophy was confirmed by EMG and the biopsy of M.biceps brachii. By the cold stress test and blood analysis, he was diagnosed as Raynaud’s disease. The findings indicate that Raynaud’s phenomenon is included in the clinical feature of myotonic dystrophy. This phenomenon was the rare manifestation of smooth muscle involvement by myotonic dystrophy.
Tissue or System Affected

Symptoms

Eye
-cataracts
-changes in retinal pigmentation

Endocrine system
-testicular atrophy leading to reduced fertility
-insulin resistance
-pituitary dysfunction
-hyperparathyroidism

Skin
-frontal balding
-pilomatrixoma/ calcifying epithelioma

Cardiovascular system
-cardiac conduction defects
-systemic hypotension

Respiratory
-respiratory insufficiency largely due to respiratory muscle weakness

Alimentary canal
-feeding and swallowing difficulties
-gastrointestinal pseudobstruction
-general gut motility problems

Nervous system
-mental retardation and cognitive impairment
-sensorineural deafness

Immune system
-reduced levels immunoglobulins and some complement components

 

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