ORPHA:220402

Limited cutaneous systemic sclerosis

Synonyms: Limited cutaneous systemic scleroderma

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Multigenic/multifactorial, Not applicable
Age of onset: Adult
Status: active

Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Limited cutaneous systemic sclerosis	Limited cutaneous systemic scleroderma
fr	Sclérose systémique cutanée limitée	Sclérodermie systémique cutanée limitée
de	Systemische Sklerose, kutane limitierte	Sklerodermie, kutane limitierte systemische
es	Esclerosis sistémica cutánea limitada	Esclerodermia sistémica cutánea limitada
it	Sclerosi sistemica cutanea limitata	Sclerodermia sistemica cutanea limitata
nl	Gelimiteerde cutane systemische sclerose	Gelimiteerde cutane systemische sclerodermie
pt	Esclerose sistémica cutânea limitada
pl	Systemowa ograniczona twardzina skórna	= en
cs	Omezená kutánní systémová skleróza	Omezená kutánní systémová sklerodermie
uk	Обмежений шкірний системний склероз	Обмежена шкірна системна склеродермія
zh	局限性皮肤系统性硬化	局限性皮肤系统性硬皮症
tr	Sınırlı kutanöz sistemik skleroz	Sınırlı kutanöz sistemik skleroderma

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	181750	NTBT		validated
ICD-10	M34.1	NTBT	attributed	validated
MONDO	0016358	E		validated
UMLS	C5574860	E		validated
GARD	1053	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):

ORPHA:98023Rare systemic or rheumatologic disease

Parents in the classifications (1):

ORPHA:90291Systemic sclerosis
rare cardiac diseases; rare respiratory diseases; rare skin diseases; rare renal diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood; rare transplant-related disorders

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:90290CREST syndrome moved to · inactive

Genes

6 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CAV1	Major susceptibility factor in	Assessed	HGNC:1527	ENSG00000105974	601047	7q31.2	caveolin 1	22402147[PMID]
CCN2	Major susceptibility factor in	Not yet assessed	HGNC:2500	ENSG00000118523	121009	6q23.2	cellular communication network factor 2
CCR6	Major susceptibility factor in	Assessed	HGNC:1607	ENSG00000112486	601835	6q27	C-C motif chemokine receptor 6	23983073[PMID]
HLA-DRB1	Major susceptibility factor in	Not yet assessed	HGNC:4948	ENSG00000196126	142857	6p21.32	major histocompatibility complex, class II, DR beta 1
IRF5	Major susceptibility factor in	Assessed	HGNC:6120	ENSG00000128604	607218	7q32.1	interferon regulatory factor 5	23372721[PMID]
KIAA0319L	Major susceptibility factor in	Not yet assessed	HGNC:30071	ENSG00000142687	613535	1p34.3	KIAA0319 like	23740937[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

15 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001000	Abnormality of skin pigmentation
HP:0000951	Abnormality of the skin
HP:0002960	Autoimmunity
HP:0001053	Hypopigmented skin patches
HP:0100958	Narrow foramen obturatorium
Frequent (79-30%)
HP:0002015	Dysphagia
HP:0002020	Gastroesophageal reflux
HP:0100579	Mucosal telangiectasiae
HP:0002017	Nausea and vomiting
HP:0200042	Skin ulcer
HP:0100585	Telangiectasia of the skin
Occasional (29-5%)
HP:0008366	Foot joint contracture
HP:0009473	Joint contracture of the hand
HP:0002092	Pulmonary arterial hypertension
HP:0002206	Pulmonary fibrosis

Run the differential on the 5 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/220402
This record as JSON: /data/d/220402.json