Recessive dystrophic epidermolysis bullosa-generalized other
Alternate names[edit | edit source]
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Autosomal recessive dystrophic epidermolysis bullosa, generalized other; Generalized mitis RDEB; RDEB generalisata mitis; RDEB, non-Hallopeau-Siemens type; RDEB-O; RDEB-generalized other; Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type; RDEB, generalized intermediate; Recessive dystrophic epidermolysis bullosa, generalized intermediate
Definition[edit | edit source]
Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.
Epidemiology[edit | edit source]
- Its exact prevalence is unknown but this sub-type represents the second most common RDEB, the first one being severe generalized RDEB (RDEB- sev gen).
- The prevalence of all RDEB sub-types, with the exclusion of RDEB-sev gen, has been estimated at 1/2,040,816 in the United States.
Cause[edit | edit source]
- The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII.
- This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis.
- This in turn causes reduced skin resistance to minor trauma.
Inheritance[edit | edit source]
Transmission is autosomal recessive.
Signs and symptoms[edit | edit source]
- Under the term RDEB-other are grouped a spectrum of phenotypes, showing highly variable severity of the cutaneous and mucosal involvement.
- The disease manifests at birth or during the neonatal period with generalized blistering.
- Aplasia cutis congenita (congenital absence of the skin) can also be observed at birth.
- Healing of blisters results in the development of milia, atrophic scarring (less severe than in RDEB- sev gen), dystrophic nails, and, occasionally, albopapuloid lesions (ivory-white colored scar-like papules) and scalp abnormalities.
- In some patients, the scarring phenomena can lead to a certain degree of pseudosyndactyly and loss of nail plates.
- Extracutaneous involvement is similar but less severe than in severe generalized RDEB with no hand/foot deformities associated with this disease.
- Oral cavity lesions and excessive dental caries are common.
- Patients have a lower risk of esophageal structures and corneal injury than RDEB-sev gen.
- Growth delay and anemia are uncommon.
- Genitourinary tract involvement is rare.
- Patients have an increased risk of developing squamous cell carcinomas (35.8% by age 50 according to the U.S. EB national registry).
Diagnosis[edit | edit source]
- Diagnosis is suspected at clinical examination and is confirmed by immunofluorescence antigen mapping and/or transmission electron microscopy on skin samples showing a cleavage plane located below the lamina densa of the cutaneous basement membrane zone.
- Genetic testing confirms the diagnosis.
Treatment[edit | edit source]
- Management is preventive: protective padding of the skin reduces blistering and careful wound care prevents secondary infection and reduces scarring. Oral hygiene is important for management of caries.
- Nutritional requirements should be evaluated by a dietitian.
- Esophageal strictures are treated by balloon dilatation with fluoroscopic guidance.
- A regular follow-up is necessary for the surveillance of SCC.
- The treatment of SCC is surgical and involves full-thickness excision with wide margins.
Prognosis[edit | edit source]
In most cases, life expectancy is normal. However, there is an increased risk of development of metastasizing squamous cell carcinomas with a cumulative risk of mortality of 21.5% by age 55 according to the U.S. EB national registry.
NIH genetic and rare disease info[edit source]
Recessive dystrophic epidermolysis bullosa-generalized other is a rare disease.
Recessive dystrophic epidermolysis bullosa-generalized other Resources | |
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