Stiff Skin Syndrome
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Learn About Stiff Skin Syndrome

What is the definition of Stiff Skin Syndrome?
Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by genetic changes (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with Stiff skin syndrome, and the diagnosis can be confirmed with genetic testing.
What are the alternative names for Stiff Skin Syndrome?
  • Stiff skin syndrome
Who are the top Stiff Skin Syndrome Local Doctors?
Daniel F. Haynes
Experienced in Stiff Skin Syndrome
Plastic Surgery
Experienced in Stiff Skin Syndrome
Plastic Surgery

ETSU Physicians & Associates- Surgery

325 N State Of Franklin Rd, 
Johnson City, TN 
Languages Spoken:
English
Offers Telehealth

. Dr. Haynes is rated as an Experienced provider by MediFind in the treatment of Stiff Skin Syndrome. His top areas of expertise are Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, HER2 Negative Breast Cancer, and BRCA Positive Breast Cancer.

Jana F. Parker
Experienced in Stiff Skin Syndrome
Dermatology
Experienced in Stiff Skin Syndrome
Dermatology

Holladay Clinic - Dermatology

6272 South Highland Drive, Suite 202, 
Murray, UT 
Experience:
23+ years
Languages Spoken:
English

Jana Parker is a Dermatologist in Murray, Utah. Dr. Parker has been practicing medicine for over 23 years and is rated as an Experienced provider by MediFind in the treatment of Stiff Skin Syndrome. Her top areas of expertise are Sunburn, Actinic Keratosis, Melanoma, and Universal Acquired Melanosis.

 
 
 
 
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Lesli A. Taylor
Experienced in Stiff Skin Syndrome
Pediatric Surgery
Experienced in Stiff Skin Syndrome
Pediatric Surgery

ETSU Physicians & Associates- Pediatric Surgery

325 N State Of Franklin Rd, 
Johnson City, TN 
Languages Spoken:
English
Offers Telehealth

. Dr. Taylor is rated as an Experienced provider by MediFind in the treatment of Stiff Skin Syndrome. Her top areas of expertise are Infantile Pyloric Stenosis, Pilonidal Sinus Disease, Retroperitoneal Inflammation, and Undescended Testicle.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center