Limited Cutaneous Systemic Sclerosis

Description

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

Clinical Features

Top most frequent phenotypes and symptoms related to Limited Cutaneous Systemic Sclerosis

  • Dysphagia
  • Gastroesophageal reflux
  • Autoimmunity
  • Nausea and vomiting
  • Abnormality of skin pigmentation
  • Abnormality of the skin
  • Pulmonary arterial hypertension
  • Skin ulcer
  • Joint contracture of the hand
  • Hypopigmented skin patches

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Limited Cutaneous Systemic Sclerosis Is also known as limited cutaneous systemic scleroderma.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Limited Cutaneous Systemic Sclerosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
17 %
Arterial Hypertension Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

BMPR1B, BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9
Specificity
10 %
Genes
17 %
Pulmonary Arterial Hypertension Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9
Specificity
10 %
Genes
17 %
Partial Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, TBC1D4, CIDEC, ADRA2A, AKT2, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8
Specificity
8 %
Genes
17 %
Congenital Generalized Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1
Specificity
17 %
Genes
17 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
17 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
17 %
Congenital Generalized Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago (United States).

CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1
Specificity
17 %
Genes
17 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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