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Zpráva o onemocněních · Dermatological

Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)

Whole genome sequencing reads the TGFBR1 gene for the inherited change that causes Ferguson-Smith disease, in which skin tumours appear and then heal on their own, leaving scars.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

An inherited skin condition in which multiple skin tumours appear, most often on sun-exposed skin, then regress on their own after several months, leaving disfiguring scars. It is caused by a loss-of-function change in one copy of the TGFBR1 gene, together with a variant at a second locus on chromosome 9.

Ferguson-Smith disease, also called multiple self-healing squamous epithelioma, is an inherited skin condition. Several skin tumours appear, most often on sun-exposed skin, and each one regresses on its own after several months, leaving disfiguring scars. The number of tumours and the age at which they start vary between people.

It is caused by a loss-of-function change in one copy of TGFBR1, a receptor that relays growth signals into the cell, together with a variant at a second locus on chromosome 9. The TGFBR1 changes differ from those that cause Loeys-Dietz syndrome. The condition was first described in Scottish families, many of whom share a founder change.

Management involves regular skin review, sun protection, and removal of tumours that do not resolve or cause problems. Each child of an affected person has a 50% chance of inheriting the change, so genetic counselling and family testing are useful.

Onemocnění, které analyzujeme

Multiple Self-Healing Squamous Epithelioma

Autozomálně dominantní

Caused by a loss-of-function change in one copy of TGFBR1, which works together with variants at a second locus on chromosome 9. These loss-of-function changes differ from the TGFBR1 changes that cause Loeys-Dietz syndrome. The condition was first described in Scottish families, many of whom share a founder change.

Příznaky a projevy

Multiple skin tumours resembling squamous carcinomas, most often on sun-exposed skin. Each tumour regresses spontaneously after several months, leaving disfiguring scars. The number of tumours and age of onset vary.

Co se diagnózou změní

Regular skin review, sun protection and removal of tumours that do not resolve or cause problems. Each child of an affected person has a 50% chance of inheriting the change, so genetic counselling and family testing are useful.

Analyzované geny

Známé také jako

ESS1; ESS1 (formerly); familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type; Ferguson-Smith disease; Ferguson-Smith syndrome; Ferguson-Smith tumor; Ferguson-Smith tumour; MSSE; multiple keratoacanthoma, Ferguson-Smith type; multiple self healing epithelioma of Ferguson-Smith; multiple self-healing squamous epithelioma, susceptibility to; self-healing squamous epithelioma type 1

MONDO:0007566OMIM 132800Orphanet 65748MedGen 154270Zdroje: [1][2][4][3]

Proč sekvenování celého genomu

Ferguson-Smith disease is inherited in a dominant way, so a family's TGFBR1 change can matter for each child. Whole genome sequencing reads the TGFBR1 gene.

Each child has a 1 in 2 chance

Each child of an affected person has a 50% chance of inheriting the change. Family testing can clarify the risk for relatives, and genetic counselling is useful for families.

Regular skin checks and sun protection

Regular skin review and sun protection are central to care, since the tumours mostly appear on sun-exposed skin. Tumours that do not resolve or that cause problems can be removed.

Reference

  1. Goudie D, 2021. Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9. Genes
  2. Ferguson-Smith MA, Goudie DR, 2015. Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus. The international journal of biochemistry & cell biology
  3. Fujiwara T, Takeda N, Ishii S, Morita H, Komuro I, 2021. Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases　- Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma. Circulation reports
  4. Ferguson-Smith MA, Wallace DC, James ZH, Renwick JH, 1975. Multiple self-healing squamous epithelioma. Birth defects original article series

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