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Zpráva o onemocněních · Dermatological

PLEC-Related Epidermolysis Bullosa and Muscular Dystrophy

Whole genome sequencing reads the PLEC gene for inherited changes that cause skin that blisters easily from birth and, in some people, muscles that weaken over time.

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

A group of inherited conditions in which the skin blisters easily from birth and the muscles may weaken over time. They are mostly caused by changes in both copies of PLEC, which makes plectin, a protein that anchors cell structures in skin and muscle.

This is a group of inherited conditions in which the skin blisters easily from birth or early childhood, often after minor friction. The most common form, epidermolysis bullosa simplex with muscular dystrophy, also causes progressive muscle weakness that can develop from childhood to adulthood. Nail changes are common, and blistering can range from the hands and feet to widespread areas.

They are mostly caused by changes in both copies of PLEC, which makes plectin, a linker protein that holds the cell skeleton together in skin and muscle. Which features occur depends partly on the type of change and which plectin forms are affected.

Care involves specialist wound and blister care, muscle monitoring, physiotherapy and nutritional support. Less often, pyloric atresia, a blockage of the stomach outlet present at birth, occurs. It is life-threatening and needs surgery soon after birth. Both parents are usually carriers, so carrier testing for relatives is offered.

Onemocnění, které analyzujeme

PLEC-Related Muscular Dystrophy-Epidermolysis Bullosa Simplex Spectrum

Autozomálně recesivní

Mostly caused by changes in both copies of PLEC, which encodes plectin, a linker protein that holds the cell skeleton together in skin and muscle. Which features occur depends partly on the type of change and which plectin forms are affected.

Příznaky a projevy

The most common form causes epidermolysis bullosa simplex, with skin blistering after minor friction from birth or early childhood, often with nail changes. Progressive muscle weakness (muscular dystrophy) can develop from childhood to adulthood. Less often there is pyloric atresia, a blockage of the stomach outlet present at birth, which is life-threatening and needs surgery soon after birth.

Co se diagnózou změní

Wound and blister care with a specialist dermatology team, muscle monitoring, physiotherapy and nutritional support. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.

Analyzované geny

Známé také jako

qualitative or quantitative defects of plectin

Zahrnuje 4 příbuzných podtypů ↓
  • autosomal recessive limb-girdle muscular dystrophy type 2Q
  • epidermolysis bullosa simplex 5B, with muscular dystrophy
  • epidermolysis bullosa simplex 5C, with pyloric atresia
  • epidermolysis bullosa simplex with nail dystrophy
MONDO:1060109Zdroje: [1][2][3][4]

Proč sekvenování celého genomu

The most common form is inherited in a recessive way, so carrier testing can be offered to relatives. Whole genome sequencing reads the PLEC gene.

Carrier testing is offered to relatives

Each sibling of an affected person has a 1 in 4 chance of being affected and a 1 in 2 chance of being a carrier. Once the PLEC changes are known, testing for at-risk family members and prenatal testing are possible.

Skin and muscle need different care

Blister care with a specialist dermatology team is central, and muscle strength is monitored with physiotherapy and regular review. Pyloric atresia is life-threatening and needs surgery soon after birth.

Reference

  1. So JY, Teng J, 1998. Epidermolysis Bullosa Simplex. GeneReviews
  2. Zrelski MM, Kustermann M, Winter L, 2021. Muscle-Related Plectinopathies. Cells
  3. Yang MC, Tu WT, Hong YK, Lin YC, Hou PC, Huang HY et al., 2025. Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed-Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype-Phenotype Correlation in Nine Cases. The Journal of dermatology
  4. PLEC gene. MedlinePlus Genetics

Další dermatological conditions

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Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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