Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.

ABSTRACT:

Background

Acromicric dysplasia is a rare heritable short-stature syndrome with joint stiffness and varying degrees of cutaneous hardness. Stiff skin syndrome is a rare connective tissue disorder characterized by diffusely thick and hard skin from the time of birth. Heterozygous point mutations in the FBN1 have been proposed as the predominant cause of both diseases.

Methods

By performing skin biopsy, X-ray imaging, electrocardiography, as well as whole-genome sequencing and Sanger sequencing, we diagnosed an 8-year-old Chinese boy as acromicric dysplasia with severe skin stiffness caused by a heterogeneous mutation in the FBN1.

Results

The patient presented with skin tightness, wrist and ankle stiffness, short stature and limbs, several deformed joints in the extremi

SUBMITTER: Wang T 

PROVIDER: S-EPMC7336748 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature