Epidermolysa bullosa simplex with muscular dystrophy

Alternate names

EBS-MD; MDEBS; MD-EBS; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex - limb girdle muscular dystrophy

Definition

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.

Epidemiology

Prevalence is unknown, but more than 40 cases have been reported to date.

Cause

• EBS-MD is caused by mutations in the PLEC gene (8q24) encoding plectin.
• Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies.

Inheritance

Autosomal recessive inheritance, a 25% chance

Transmission is autosomal recessive.

Signs and symptoms

• Onset of blistering is usually as early as birth, whereas muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation.
• Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present, including enamel hypoplasia with premature tooth decay, blistering in the oral cavity, pharynx and, rarely, larynx and trachea with inspiratory stridor and breathing difficulties requiring tracheotomy.
• Slowly progressive weakness of the head and limb muscles appears between the first year and the fourth decade of life and may confine the patient to a wheelchair.
• Additional neurological symptoms (ptosis, oculobulbar muscle weakness and fatigability) indicative of a myasthenic syndrome have been described in some patients.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Alopecia(Hair loss)
• Aphasia(Difficulty finding words)
• Dysphasia
• Echolalia(Echoing another person's speech)
• Hyperconvex fingernails
• Hypoplastic fingernail(Small fingernail)
• Muscle flaccidity
• Mutism(Inability to speak)
• Myopathy(Muscle tissue disease)
• Oculomotor nerve palsy
• Ophthalmoplegia(Eye muscle paralysis)
• Skin vesicle

30%-79% of people have these symptoms

• Abnormality of dental enamel(Abnormal tooth enamel)
• Dermal atrophy(Skin degeneration)
• Papule
• Ptosis(Drooping upper eyelid)

5%-29% of people have these symptoms

• Fatigable weakness
• Fatigue(Tired)

Treatment

• Supportive care to protect the skin from blistering; use of dressings that will not further damage the skin and will promote healing of open wounds.
• Lance and drain new blisters.
• Dressings involve three layers: a primary nonadherent contact layer; a secondary layer providing stability, adding padding, and absorbing drainage; and a tertiary layer with elastic properties.<ref>Pfendner EG, Bruckner AL. Epidermolysis Bullosa Simplex. 1998 Oct 7 [Updated 2016 Oct 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1369/</ref>[1].

References

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NIH genetic and rare disease info

• NIH info on Epidermolysa bullosa simplex with muscular dystrophy

Epidermolysa bullosa simplex with muscular dystrophy is a rare disease.

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