Stiff skin syndrome
(Redirected from
Congenital fascial dystrophy
) | This article needs additional citations for verification. (February 2016) |
| Stiff skin syndrome | |
|---|---|
| Specialty | Medical genetics  |
Stiff skin syndrome (also known as "Congenital fascial dystrophy"vascular hyperactivity are not present in patients.[1]
Not much is known about it, cause or treatment, and further investigation is required, as it has only been reported 41 times throughout history.[2]
Genetics
This condition is associated with mutations in the Fibrillin 1 (
FBN1
) gene.
Diagnosis
Differential diagnosis
Other conditions associated with mutations in this gene include
See also
- Scleroderma
- Self-healing papular mucinosis
- List of cutaneous conditions
References
- ^ ISBN 978-1-4160-2999-1.
- ^ "Colorado boy battling rare skin condition that is turning him to 'stone'". Fox31 Denver. 19 February 2016. Retrieved 2016-02-23.
- ^ "FBN1 fibrillin 1". Entrez Gene.
- ^ Online Mendelian Inheritance in Man (OMIM): FIBRILLIN 1; FBN1 - 134797