Stiff skin syndrome
 | This article needs additional citations for verification. (February 2016) |
| Stiff skin syndrome | |
|---|---|
| Specialty | Medical genetics  |
Stiff skin syndrome (also known as "Congenital fascial dystrophy"[1]) is a cutaneous condition characterized by ‘rock hard’ induration, thickening of the skin and subcutaneous tissues, limited joint mobility, and mild hypertrichosis in infancy or early childhood. Immunologic abnormalities or vascular hyperactivity are not present in patients.[1]
Not much is known about it, cause or treatment, as it has only been reported 41 times throughout history.[2] Not much is known about this, and further investigation is required.[2] According to news reports on one particular patient by name of Jaiden Rogers,[2] the patient's skin hardens in some places, and it slowly spreads over the surrounding area. For Rogers, it's spreading over the back, legs, and hips, inhibiting his ability to walk. He says it hurts, but finds it difficult to describe the sensations further. Currently, it appears that chemotherapy similar to that used for cancer is slowing the spread, but it also appears that once the skin has hardened it cannot revert to its healthy flexible state. Physical therapy also appears to help.
Genetics
This condition is associated with mutations in the Fibrillin 1 (FBN1) gene.
Diagnosis
Differential diagnosis
Other conditions associated with muations in this gene include acromicric dysplasia, Marfan syndrome and its variant Marfanoid–progeroid–lipodystrophy syndrome, autosomal dominant Weill-Marchesani syndrome, isolated ectopia lentis, MASS phenotype, and Shprintzen-Goldberg syndrome.[3][4]
See also
References
- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ a b c "Colorado boy battling rare skin condition that is turning him to 'stone'". Fox31 Denver. Retrieved 2016-02-23.
- ^ "FBN1 fibrillin 1". Entrez Gene.
- ^ Online Mendelian Inheritance in Man (OMIM): FIBRILLIN 1; FBN1 - 134797
External links
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