Stiff skin syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Stiff skin syndrome | |
| fr | Syndrome de la peau parcheminée | |
| de | Stiff-skin-Syndrom | |
| es | Síndrome de la piel apergaminada | |
| it | Sindrome della cute rigida | |
| nl | Stijve huid-syndroom | |
| pt | Síndrome da pele rígida | |
| pl | Zespół sztywnej skóry | |
| cs | Syndrom tuhé kůže | Stiff skin syndrom |
| uk | Синдром жорсткої шкіри | |
| zh | 皮肤僵硬综合征 | |
| tr | Sert cilt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184900 | E | validated | |
| OMIM | 228020 | BTNT | validated | |
| ICD-10 | L98.8 | NTBT | attributed | validated |
| ICD-11 | EE6Y | NTBT | index | validated |
| MONDO | 0008492 | E | validated | |
| MeSH | C566112 | E | validated | |
| UMLS | C1861456 | E | validated | |
| GARD | 5025 | E | validated | |
| MedDRA | 10085085 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79385Unclassified genetic skin disorder
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FBN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3603 | ENSG00000166147 | 134797 | 15q21.1 | fibrillin 1 | 20375004[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 54 cases | Worldwide | Case(s) | Validated | 27846975[PMID]_26944597[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27846975[PMID]_26944597[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
24 annotations · validated 2025-07-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100679 | Lack of skin elasticity | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0000998 | Hypertrichosis | |
| Occasional (29-5%) | ||
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0003011 | Abnormality of the musculature | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0004325 | Decreased body weight | |
| HP:0000501 | Glaucoma | |
| HP:0000822 | Hypertension | |
| HP:0007328 | Impaired pain sensation | |
| HP:0100578 | Lipoatrophy | |
| HP:0011800 | Midface retrusion | |
| HP:0001324 | Muscle weakness | |
| HP:0000787 | Nephrolithiasis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000541 | Retinal detachment | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0005978 | Type II diabetes mellitus | |
| Very rare (<4-1%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 40551142[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2833
- This record as JSON: /data/d/2833.json