Stiff Skin Syndrome

Last update 08 May 2025

Basic Info

Synonyms

SSKS, STIFF SKIN SYNDROME, Stiff Skin Syndrome

+ [5]

Introduction

A rare, autosomal dominant inherited syndrome caused by mutations in the FBN1 gene. It is characterized by hard and thickened skin, usually over the entire body, and limited joint motility.

Clinical Trials associated with Stiff Skin Syndrome

EUCTR2011-002995-17-NL

/ Unknown statusNot Applicable

Treatment trial of stiff skin syndrome with Losartan - Treatment trial of stiff skin syndrome with Losartan

Start Date15 Aug 2011

Sponsor / Collaborator-

100 Clinical Results associated with Stiff Skin Syndrome

100 Translational Medicine associated with Stiff Skin Syndrome

0 Patents (Medical) associated with Stiff Skin Syndrome

Literatures (Medical) associated with Stiff Skin Syndrome

01 Mar 2025·Journal of Biological Chemistry

Light-chain split luciferase assay implicates pathological NOTCH3 thiol reactivity in inherited cerebral small vessel disease

Article

Author: Sukpraphrute, Catherine ; Greenbaum, Jolie ; Cartee, Naw May Pearl ; Sukpraphrute, Richard ; Wu, Emily ; Lee, Soo Jung ; Wang, Michael M

Stereotyped mutations in NOTCH3 drive CADASIL, the leading inherited cause of stroke and vascular dementia. The vast majority of these mutations result in alterations in the number of cysteines in the gene product. However, non-cysteine-altering pathogenic mutations have also been identified, making it challenging to discriminate pathogenic from benign NOTCH3 sequence variants. Here, we present a method for quantitative assessment of NOTCH3 mutants, the light chain split luciferase (LSL) assay. In LSL, NOTCH3 mutant fragments, cloned between a split luciferase open reading frame, are transfected into cells, producing secreted luciferase activity that is dependent on the normal structure of NOTCH3. Insertion of point mutants that cause CADASIL results in significantly lower activity. Using a panel of 47 sequences, we determined the sensitivity and specificity of LSL for pathogenic NOTCH3 mutation discrimination to be 100% and 93%. LSL was also modestly successful in differentiating pathogenic proteins responsible for Marfan's disease and Stiff Skin Syndrome. Two additional parameters from the LSL analysis (TCEP rescue of activity and secretion index) were also shown to be useful in characterizing NOTCH3 mutants. We show that the spacing and primary sequence of the light chain module is an important component of the LSL assay, as a single light chain cysteine is critical for pathogenic sequence discrimination. Furthermore, we show that the activity of CADASIL mutant reporters is amplified by the application of cysteine-reactive iodoacetamide, suggesting that LSL may be deployed to screen for novel compounds that suppress pathogenic conformations of NOTCH3.

01 Jul 2024·Anais Brasileiros de Dermatologia

Stiff skin syndrome: long-term follow-up

Letter

Author: Rivitti-Machado, Maria Cecília da Matta ; Samorano, Luciana Paula ; Oliveira, Zilda Najjar Prado de ; Pincelli, Marcella Soares ; Baka, Jessica Lana Conceição E Silva ; Rocha, Tauana Ogata Coelho da

01 Jan 2024·Pediatric Dermatology

Characteristics and onset of presentation of pediatric stiff skin syndrome: A retrospective cohort study of 11 patients in a tertiary care center

Article

Author: Sanchez‐Espino, Luis Fernando ; Laxer, Ronald M. ; Stimec, Jennifer ; Sibbald, Cathryn ; Pope, Elena

AbstractBackground/ObjectiveStiff skin syndrome (SSS) is a rare disorder characterized by “rock hard” indurated skin affecting different body parts. The localized variant poses a diagnostic challenge, as it is frequently mistaken for other inflammatory connective tissue disorders. The aim of this study is to provide insightful clinical, radiologic and diagnostic data that might prove useful for the evaluation, management and treatment of pediatric patients with segmental SS.MethodsThis single‐center cohort study included patients ≤18 years diagnosed with localized SSS from 1988 to 2021 in a quaternary pediatric healthcare center in Toronto, Canada. Data included demographics, clinical, histopathologic and radiologic features, treatments, and clinical course. Data were summarized with descriptive statistics (mean, standard deviation, medians, interquartile ranges [IQRs]) and frequencies.ResultsA total of 11 patients were included. The sclerotic changes were measured clinically and radiologically, by a total of 16 imaging studies: 13 magnetic resonance imaging (MRI) and 3 ultrasound. MRI readings showed abnormal high signal intensity of the affected tissue correlating with the anatomical site of involvement in all cases, specifically, in the shoulder/pelvic girdle with limb extension. Shear wave ultrasound elastography (SWE) demonstrated higher values within the dermis compared to the control site.ConclusionThe presence of segmental sclerotic changes that affects the pelvic/shoulder girdle with extension to the extremities, in the absence of inflammation on biopsy and abnormal signaling intensity on imaging is suggestive of SSS. Skin SWE is a feasible, noninvasive, and objective instrument to evaluate and monitor sclerotic changes overtime, it could be potentially extrapolated to other pediatric skin sclerotic conditions.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

Stiff Skin Syndrome

Basic Info

Related

Analysis