Stiff Skin Syndrome
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Stiff Skin Syndrome Overview

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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?
Advanced in Stiff Skin Syndrome
Advanced in Stiff Skin Syndrome
Referral may be required

Yale University

800 Howard Ave, 
New Haven, CT 
203-785-2140
Languages Spoken:
English
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Richard Antaya is a Dermatologist practicing medicine in New Haven, Connecticut. Dr. Antaya is rated as an Advanced provider by MediFind in the treatment of Stiff Skin Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Hemi 3 Syndrome, Junctional Epidermolysis Bullosa, Epidermal Nevus, and Linear Nevus Sebaceous Syndrome.

Experienced in Stiff Skin Syndrome
Dr. Matthew T. Hefty
General Surgery
Experienced in Stiff Skin Syndrome
Dr. Matthew T. Hefty
General Surgery
Referral may be required

OSF Saint Katharine - Center For Health - General Surgery

1840 1st Avenue, 
Sterling, IL 
779-251-6110
Languages Spoken:
English
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Matthew Hefty is a General Surgeon practicing medicine in Sterling, Illinois. Dr. Hefty is rated as an Experienced provider by MediFind in the treatment of Stiff Skin Syndrome. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Gallbladder Disease, Cholecystitis, Pilonidal Sinus Disease, Small Bowel Resection, and Colostomy. Dr. Hefty is board certified in American Board Of Surgery.

 
 
 
 
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Experienced in Stiff Skin Syndrome
Dr. Daniel F. Haynes
Plastic Surgery
Experienced in Stiff Skin Syndrome
Dr. Daniel F. Haynes
Plastic Surgery
Referral may be required

ETSU Physicians & Associates- Surgery

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7201
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Daniel Haynes is a Plastic Surgeon practicing medicine in Johnson City, Tennessee. Dr. Haynes is rated as an Experienced provider by MediFind in the treatment of Stiff Skin Syndrome. His clinical expertise encompasses Congenital Generalized Lipodystrophy, Familial Partial Lipodystrophy, HER2 Negative Breast Cancer, and BRCA Positive Breast Cancer. Dr. Haynes is board certified in American Board Of Plastic Surgery.

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