Multiple Self-healing Squamous Epithelioma

Description

Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.

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

Multiple Self-healing Squamous Epithelioma Is also known as multiple keratoacanthoma, ferguson-smith type, ferguson-smith disease, msse, self-healing squamous epithelioma type 1, familial primary self-healing squamous epithelioma of the skin, ferguson-smith type.

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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Multiple Self-healing Squamous Epithelioma Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

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

SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, SMAD3, MYH11, MYLK, NOTCH1, PLOD1
Specificity
6 %
Genes
100 %
NGS Connective Tissue Disorders Panel.

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

SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Loeys-Dietz syndrome type 1A.

By Center for Human Genetics, Inc (United States).

TGFBR1
Specificity
100 %
Genes
100 %
Thoracic Aortic Aneurysms and Aortic Dissections (TGFBR1/2).

By Center for Human Genetics, Inc (United States).

TGFBR1, TGFBR2
Specificity
50 %
Genes
100 %
Loeys-Dietz Syndrome (TGFßR1, TGFßR2, SMAD3, and TGFß2).

By Center for Human Genetics, Inc (United States).

TGFB2, TGFBR1, TGFBR2, SMAD3
Specificity
25 %
Genes
100 %
Familial Aortic Aneurysms.

By Center for Human Genetics, Inc (United States).

TGFB2, TGFBR1, TGFBR2, ACTA2, SMAD3, MYH11, MYLK, PRKG1
Specificity
13 %
Genes
100 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc (United States).

TGFB2, TGFBR1, TGFBR2, TGFBR3, ACTA2, NTM, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, SMAD3, MYH11, MYLK, NOTCH1, PRKG1
Specificity
5 %
Genes
100 %
Loeys-Dietz Syndrome.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

TGFBR1, TGFBR2
Specificity
50 %
Genes
100 %

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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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