Severe generalized recessive dystrophic epidermolysis bullosa

Alternate names

Recessive dystrophic epidermolysis bullosa, severe generalized; RDEB, severe generalized; RDEB-sev gen; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly); Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB generalisata gravis; RDEB, Hallopeau-Siemens type; Severe generalized RDEB

Definition

Severe generalized recessive dystrophic epidermolysis bullosa is the most severe types of dystrophic epidermolysis bullosa.

Cause

Severe generalized recessive dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene.

Inheritance

Autosomal recessive inheritance, a 25% chance

This condition is inherited in an autosomal recessive pattern.

Signs and symptoms

• The signs and symptoms of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems.
• As the blisters heal, they result in severe scarring.
• Scarring in the mouth and esophagus can make it difficult to eat food, leading to poor nutrition and slow growth.
• Additionally, individuals with this condition have a very high risk of developing a form of skin cancer called squamous cell carcinoma, which tends to be unusually aggressive and is often life-threatening.

Clinical presentation

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

• Atrophic scars(Sunken or indented skin due to damage)
• Carious teeth(Dental cavities)
• Chronic pain(Long-lasting pain)
• Fragile skin(Skin fragility)
• Gastrointestinal inflammation
• Milia(Milk spot)
• Mitten deformity
• Oral mucosal blisters(Blisters of mouth)

30%-79% of people have these symptoms

• Abnormal scalp morphology(Abnormality of the scalp)
• Anonychia(Absent nails)
• Anxiety(Excessive, persistent worry and fear)
• Chronic cutaneous wound
• Depressivity(Depression)
• Erosion of oral mucosa
• Iron deficiency anemia
• Nail dystrophy(Poor nail formation)
• Squamous cell carcinoma

5%-29% of people have these symptoms

• Abnormal circulating selenium concentration
• Anal fissure
• Ankyloglossia(Tongue tied)
• Aplasia cutis congenita(Absence of part of skin at birth)
• Chronic kidney disease
• Corneal erosion(Damage to outer layer of the cornea of the eye)
• Cutaneous melanoma
• Decreased plasma total carnitine
• Decreased serum zinc
• Delayed puberty(Delayed pubertal development)
• Dilated cardiomyopathy(Stretched and thinned heart muscle)
• Dysphagia(Poor swallowing)
• Esophageal ulceration(Esophagus ulcer)
• Gastroesophageal reflux(Acid reflux)
• Glomerulonephritis
• IgA deposition in the glomerulus
• Joint contractures involving the joints of the feet
• Low levels of vitamin D(Deficient in vitamin D)
• Malnutrition
• Narrow mouth(Small mouth)
• Osteopenia
• Osteoporosis
• Recurrent skin infections(Skin infections, recurrent)
• Renal amyloidosis
• Urethral stricture
• Urinary bladder sphincter dysfunction
• Visual loss(Loss of vision)

1%-4% of people have these symptoms

• Genital blistering

Diagnosis

• Identification of biallelic pathogenic variants of COL7A1 by molecular genetic testing.
• If molecular genetic testing is not diagnostic, examination of a skin biopsy with direct immunofluorescence (IF) for specific cutaneous markers and/or electron microscopy (EM) may be necessary for diagnosis.<ref>Pfendner EG, Lucky AW. Dystrophic Epidermolysis Bullosa. 2006 Aug 21 [Updated 2018 Sep 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/NBK1304/</ref>[1].

Treatment

There is no cure for this condition and treatment is aimed at preventing blisters from forming and managing symptoms. Infants and children with severe generalized RDEB and poor growth require attention to fluid and electrolyte balance and may require nutritional support, including feeding gastrostomy. Anemia is treated with iron supplements and transfusions as needed. Other nutritional supplements may include calcium, vitamin D, selenium, carnitine, and zinc. Occupational therapy may help prevent hand contractures. Surgical release of fingers often needs to be repeated.<ref>Pfendner EG, Lucky AW. Dystrophic Epidermolysis Bullosa. 2006 Aug 21 [Updated 2018 Sep 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/NBK1304/</ref>[2].

References

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NIH genetic and rare disease info

• NIH info on Severe generalized recessive dystrophic epidermolysis bullosa

Severe generalized recessive dystrophic epidermolysis bullosa is a rare disease.

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