GTR Home > Conditions/Phenotypes > Scleroderma, familial progressive

Summary

Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome. [from OMIM]

Clinical features

Help
  • Irregular heart beat
  • Lack of skin elasticity
  • Xerostomia
  • Respiratory insufficiency
  • Calcinosis
  • Amyotrophy
  • Irregular hyperpigmentation
  • Carious teeth
  • Seizure
  • Arthralgia
  • Malabsorption
  • Myalgia
  • Telangiectasia
  • Feeding difficulties in infancy
  • Narrow mouth
  • Trismus
  • Chondrocalcinosis
  • Hyperkeratosis
  • Edema
  • Atypical scarring of skin
  • Acrocyanosis
  • Arthritis
  • Abnormality of the abdomen
  • Abnormality of the myocardium
  • Coronary artery disease
  • Abnormality of the pericardium
  • Weight loss
  • Nausea and vomiting
  • Migraine
  • Pulmonary hypertension
  • Pulmonary infiltrates
  • Pulmonary fibrosis
  • Bowel incontinence
  • Osteomyelitis
  • Osteolysis
  • Autoimmunity
  • Abnormality of chromosome stability
  • Abnormality of the gastric mucosa
  • Peripheral neuropathy
  • Abnormal tendon morphology
  • Scleroderma
  • Mucosal telangiectasiae
  • Teleangiectasia of the skin
  • Myositis
  • Erectile abnormalities
  • Hypertensive crisis
  • Chest pain
  • Gangrene
  • Skin ulcer
  • Sclerodactyly
  • Abnormal renal physiology
Show all (51)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk