Synonym(s)
Congenital fascial dystrophy; Congenital pseudoscleroderma; Easterly-McKusick syndrome; OMIM 228020; Stiff-man syndrome; Stiff-people syndrome
HistoryThis section has been translated automatically.
Pichler, 1968; Esterly and McKusick, 1971
DefinitionThis section has been translated automatically.
Autosomal-dominantly inherited, very rare hereditary connective tissue disease, which leads to extensive skin hardening, especially over the joints. The progressive skin hardening leads to stiffness of the extremities and trunk. The syndrome is caused by a mutation in the FBN1 gene (15q21.1), which codes for the protein Fbrillin 1.
You might also be interested in
ManifestationThis section has been translated automatically.
Congenital or occurring in the first years of life.
LocalizationThis section has been translated automatically.
Mainly the trunk and extremities are affected.
Clinical featuresThis section has been translated automatically.
Scleroderma-like, rock-hard, cutaneous induration and caking of the skin with underlying layers of connective tissue, especially in regions with large fasciae Restriction of movement, especially of the knee joints or hip joints. Attacks of tetaniform, very painful muscle cramps.
HistologyThis section has been translated automatically.
Non-inflammatory proliferation of collagen fibres with massively spread dermis and fascia.
DiagnosisThis section has been translated automatically.
No immunological abnormalities. Diagnosis according to clinic, histology and medical history.
Differential diagnosisThis section has been translated automatically.
Complication(s)This section has been translated automatically.
As a result of muscle spasms: fractures, dislocations, contractures.
TherapyThis section has been translated automatically.
Trial with systemic glucocorticoids and intensive physiotherapy for joint mobilization.
Progression/forecastThis section has been translated automatically.
Rare developmental delay, due to the restriction of the lung in thoracic infestation. Mostly only mild progression.
LiteratureThis section has been translated automatically.
- Esterly NB, McKusick VA (1971) Stiff skin syndrome. Pediatrics. 47: 360-369
- Fidzianska A, Jablonska S (2000) Congenital fascial dystrophy: abnormal composition of the fascia. J Am Acad Dermatol 43(5 Pt 1): 797-802
- Gilaberte Y et al (1995) Stiff skin syndrome: a case report and review of the literature. Dermatology 190: 148-151
- Helmet TN, Wirth PB, Helmet KF (1997) Congenital fascial dystrophy: the stiff skin syndrome. Cutis 60: 153-154
- Jablonska S, Blaszczyk M (2000) Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome). Pediatric dermatol 17: 105-110
- Mat C et al (2003) Stiff skin syndrome: a case report. Pediatric dermatol 20: 339-341
- Morrell DS et al (2003) Two cases for diagnosis: asymmetric childhood scleredema or stiff skin syndrome? Pediatric Dermatol 20: 350-355
- Pichler E (1968) Hereditary contractures with scleroderma-like skin changes. Journal for Pediatrics (Berlin) 104: 349-361
Recommended articles
Outgoing links (1)
Scleroderma systemic;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer