{"orpha":2833,"name":"Stiff skin syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2833/","orphanet_url":"https://www.orpha.net/en/disease/detail/2833","names":{"fr":{"name":"Syndrome de la peau parcheminée","definition":"Une maladie cutanée rare, lentement progressive, caractérisée par une peau très dure attachée fermement aux tissus sous-jacents (surtout au niveau des épaules, du bas du dos, des fesses et des cuisses), une hypertrichose légère et une hyperpigmentation au niveau des zones cutanées affectées, ainsi qu'une limitation de la mobilité articulaire (affectant principalement les grosses articulations) et des contractures de flexion. Des nodules cutanés peuvent être associés (affectant surtout les articulations interphalangiennes distales), ainsi que des manifestations extra-cutanées, comme par exemple, une neuropathie diffuse d'enclavement, une scoliose, une marche sur la pointe des pieds et un thorax étroit. Des changements pulmonaires restrictifs, une faiblesse musculaire, une petite taille et un retard de croissance ont aussi été rapportés. Il n'y a pas d'hyperréactivité vasculaire, d'anomalie immunologique ou d'atteinte viscérale, musculaire ou osseuse."},"de":{"name":"Stiff-skin-Syndrom","definition":"Das Stiff-Skin-Syndrom ist eine seltene, langsam fortschreitende Hauterkrankung, die gekennzeichnet ist durch steinharte, fest mit dem darunter liegenden Gewebe verbundene Haut (vor allem an den Schultern, dem unteren Rücken, dem Gesäß und den Oberschenkeln), milde Hypertrichose und Hyperpigmentierung über den betroffenen Hautarealen sowie eine eingeschränkte Gelenkbeweglichkeit (vor allem der großen Gelenke) mit Beugekontrakturen. Kutane Knötchen, die meist die distalen Interphalangealgelenke betreffen, sowie extrakutane Manifestationen, einschließlich diffuser Entrapment-Neuropathie, Skoliose, Zehenspitzengang und ein schmaler Thorax, können assoziiert sein. Restriktive pulmonale Veränderungen, Muskelschwäche, Kleinwuchs und Wachstumsverzögerung wurden ebenfalls berichtet. Eine vaskuläre Hyperreaktivität, immunologische Anomalien oder eine viszerale, muskuläre oder knöcherne Beteiligung wurden nicht beschrieben."},"es":{"name":"Síndrome de la piel apergaminada","definition":"Es una enfermedad cutánea poco frecuente de progresión lenta caracterizada por una piel endurecida unida firmemente a los tejidos subyacentes (principalmente en los hombros, la parte baja de la espalda, las nalgas y los muslos), hipertricosis e hiperpigmentación leves que recubren las áreas afectadas de la piel, así como una movilidad articular limitada (principalmente de articulaciones grandes) con contracturas por flexión. También se pueden asociar nódulos cutáneos, que afectan principalmente a las articulaciones interfalángicas distales, así como manifestaciones extracutáneas, que incluyen neuropatía difusa por atrapamiento, escoliosis, marcha de puntillas y tórax estrecho. Asimismo, se han notificado cambios pulmonares restrictivos, debilidad muscular, talla baja y retraso del crecimiento. No se ha descrito hiperreactividad vascular, anomalías inmunológicas ni afectación visceral, muscular u ósea."},"it":{"name":"Sindrome della cute rigida","definition":"La sindrome della cute rigida è una malattia cutanea rara a progressione lenta, caratterizzata da cute molto rigida saldamente ancorata ai tessuti sottostanti (localizzata soprattutto sulle spalle, sulla porzione inferiore della schiena, sulle natiche e sulle cosce), lieve ipertricosi, iperpigmentazione delle aree della cute interessate e limitazione della mobilità articolare (in particolare delle grandi articolazioni) associata a contratture in flessione. Possono associarsi noduli cutanei che interessano soprattutto le articolazioni interfalangee distali, e segni clinici extracutanei, come la neuropatia diffusa da intrappolamento, la scoliosi, un'andatura in punta di piedi e il torace stretto. Sono stati descritti casi di pazienti con alterazioni polmonari restrittive, debolezza muscolare, bassa statura e ritardo della crescita. Non sono stati osservati casi di iperreattività vascolare, anomalie immunologiche, né di interessamento viscerale, muscolare o scheletrico."},"nl":{"name":"Stijve huid-syndroom","definition":"Stijve huidsyndroom is een zeldzame, traag progressieve huidziekte, die gekarakteriseerd wordt door heel harde huid die stevig gebonden is aan onderliggende weefsels (voornamelijk aan de schouders, onderrug, zitvlak en dijen), milde hypertrichose en hyperpigmentatie die de getroffen gebieden van de huid overdekt, alsook beperkte gewrichtsmobiliteit (voornamelijk van grote gewrichten) met flexiecontracturen. Cutane noduli, die meestal distale interfalangeale gewrichten treffen, alsook extracutane manifestaties, waaronder diffuse zenuwcompressie neuropathie, scoliose, op de tenen lopen en een smalle borstkas, kunnen geassocieerd zijn. Restrictieve pulmonale veranderingen, spierzwakte, kleine gestalte en groeiachterstand werden ook reeds gerapporteerd. Er werden geen vasculaire hyperreactiviteit, immunologische afwijkingen, of betrokkenheid van ingewanden, spieren of botten beschreven."},"pt":{"name":"Síndrome da pele rígida"},"pl":{"name":"Zespół sztywnej skóry"},"cs":{"name":"Syndrom tuhé kůže","synonyms":["Stiff skin syndrom"]},"uk":{"name":"Синдром жорсткої шкіри","definition":"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."},"zh":{"name":"皮肤僵硬综合征"},"tr":{"name":"Sert cilt sendromu"}},"xrefs":[{"source":"OMIM","code":"184900","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"228020","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE6Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"642409035"},{"source":"MONDO","code":"0008492","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566112","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861456","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5025","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085085","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79385,"name":"Unclassified genetic skin disorder","classifications":[156,187]}],"children":[],"genes":[{"symbol":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20375004[PMID]","hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":54.0,"area":"Worldwide","status":"Validated","source":"27846975[PMID]_26944597[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27846975[PMID]_26944597[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-07-24","source":"40551142[PMID]","terms":[{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Very rare (<4-1%)","criteria":null}]}}