Multiple self-healing squamous epithelioma

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Multiple self-healing squamous epithelioma

ORPHA:65748Disease

Also called Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · Ferguson-Smith disease · MSSE · Multiple keratoacanthoma, Ferguson-Smith type · Self-healing squamous epithelioma type 1

What it is

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.

Key facts

Age of onset
Adolescent, Adult, Childhood, Elderly
Inheritance
Autosomal dominant
Classified as
Disease

Gene

TGFBR1Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

D48.5filed under a broader ICD-10 category — shared with 1 other rare disease

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

GARD 3090MONDO 0007566OMIM 132800UMLS C0546476

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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