HistoryThis section has been translated automatically.
Hallopeau, 1896; Siemens, 1921
DefinitionThis section has been translated automatically.
Congenital, autosomal recessive inherited, generalized, severe blistering dermatosis with spontaneous and post-traumatic blistering and severe mutating scarring.
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EtiopathogenesisThis section has been translated automatically.
Autosomal recessive inheritance. A homozygous or compound heterozygous mutation of the COL7A1 gene mapped on chromosome 3p21.3. The mutation leads to reduced or absent synthesis of collagen type VII.
ManifestationThis section has been translated automatically.
In this classic severe form of RDEB, the blisters are present at birth or occur in the neonatal period.
LocalizationThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
- Large-surface blisters (100%) with serous or hemorrhagic contents and irregularly configured large-surface erosions (100%) that heal with scarring, reepithelialize hesitantly, and may cause severe disability due to mutilations and synechiae. They may affect the entire body.
- Clinically significant is the tendency to spontaneous or post-traumatic blistering (the acting trauma defines the localization of the lesions) with positive Nikolski phenomenon I, onychodystrophy (100%)
- Milia in healed lesions (100%).
- Many affected individuals develop large irregular brown patches that histologically consist of collections of melanocytes and are referred to as EB (melanocytic) nevi (Lanschuetzer et al 2010). To date, no cases of melanoma have been observed reported arising in these nevi.
- Marked involvement of conjunctival, oral, pharyngeal, esophageal, and genital mucosa.
- Enamel defects and caries involvement (10-25%), skeletal hypoplasia, brain damage, speech disorders, severe contractures.
- Oral involvement can lead to fusion of the tongue with the floor of the mouth (ankyloglossia) and progressive reduction of the oral cavity and mouth opening (microstomia).
Esophageal blisters and erosions, as well as webs and strictures, can cause severe dysphagia with resulting poor feeding (Mortell AE et al 2010). In rare cases, affected individuals may have esophageal disease with few or no skin manifestations. Gastroesophageal reflux disease is also common.
Anal erosions, inadequate fluid and fiber intake, and use of opioid analgesics contribute to frequent severe constipation.
- Growth retardation (100%): Height and weight are often below peers.
Eyes: Corneal erosions can lead to scarring and loss of vision.
Heart: Dilated cardiomyopathy, sometimes associated with selenium and carnitine deficiency, has been reported in RDEB and may be fatal in some cases.
Urologic/renal. Urethral erosions, strictures, bladder dysfunction, and glomerulonephritis may occur, sometimes leading to renal failure.
Orthopedic. People with REBD tend to have contractures and pseudosyndactyly of the fingers, resulting in a "mitten" or "cocoon" hand and thus impaired function and decreased quality of life. Although fusion of the toes does not affect function, painful blistering and progressive contractures of the foot and ankle, as well as the larger joints (knee, hip, neck), can impair walking and function.
HistologyThis section has been translated automatically.
Differential diagnosisThis section has been translated automatically.
TherapyThis section has been translated automatically.
- Symptomatic. Antiseptic and wound-healing externals (see Epidermolysis bullosa group below). Prevention and treatment of secondary infections.
- Experimental vitamin E therapy (e.g. Evit Kps.) Infants: 25 mg/kg bw/day, adults: 600-1200 mg/kg bw/day, or collagenase inhibitors such as phenytoin (e.g. Zentropil, Epanutin) initially 2-3 mg/kg bw/day in 2 doses over 10-14 days, followed by a gradual dose increase up to a blood level of at least 8 μg/ml. Effectiveness can only be assessed after 6 months.
- Limited success has been described for DADPS, retinoids, chloroquine or Ciclosporin A.
General therapyThis section has been translated automatically.
Avoidance of mechanical irritation and pressure points on the skin. Diet rich in vitamins and minerals.
Mucosal defects (20% of pat.) may lead to restricted food intake! Continuous and early dental care (malformation, caries).
Lifelong control for spinocellular carcinoma.
Surgical measures in case of synechiae and contractures.
Early physiotherapy to prevent contractures.
Progression/forecastThis section has been translated automatically.
Unfavorable: risk of sepsis, esophageal stenosis, possible development of carcinoma (as early as 20-30 years of age) in the area of tight scar tracts. Lifetime risk of aggressive squamous cell carcinoma (SCC) is over 90% with significant metastatic potential. SCC usually occurs in the third decade, but can occur as early as the second decade. Affected individuals usually succumb to aggressive metastatic SCC (Mellerio et al 2016).
Note(s)This section has been translated automatically.
Diagnosis: clinic, histology, immunofluorescence, electron microscopy, molecular genetic testing, prenatal diagnosis if necessary.
LiteratureThis section has been translated automatically.
- Anton-Lamprecht I (1981) Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin. Lancet 2: 1077-1079
- Csikos M (2003) Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. Clin Exp Dermatol 28: 163-166
- del-Rio E (1993) Prevention of blisters in dystrophic epidermolysis bullosa with ciclosporine. J Am Acad Dermatol 29: 1038-1039.
- Fine JD et al (2008) The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 58:931-950.
- Fivenson DP et al (2003) Graftskin therapy in epidermolysis bullosa. J Am Acad Dermatol 48: 886-892
- Hallopeau FH (1890) Sur une dermatose bulleuse infantile avec cicatrices indélébiles, kystes epidermiques et manifesstations buccales. Annales de dermatologie et de syphilographie, (Paris) 1: 414.
- Herlitz O (1935) Congenital nonsyphilitic pemphigus: a review together with a description of a new form of the disease. Acta Paediat 17: 315-371
- Höger P (2005) Pediatric dermatology. Schattauer Verlag Stuttgart p 235-236
- Horn HM et al (2002) The clinical spectrum of dystrophic epidermolysis bullosa. Br J Dermatol 146: 267-274
- Laimer M et al (2015) Hereditary epidermolysis JDDG 13: 1125-1134.
- Lanschuetzer CM et al (2010) Epidermolysis bullosa nevi. Dermatol Clin 28:179-183.
- Kon A et al (1998) Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. J Invest Dermatol 111: 534-537.
- Mellerio JE et al (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines. Br J Dermatol 174:56-67.
- Mortell AE et al (2010) Epidermolysis bullosas: management of esophageal strictures and enteric access by gastrostomy. Dermatol Clin 28:311-318.
- Siemens HW (1921) Introduction to the general and special hereditary pathology of man. (Berlin) 2nd edition.
- Wollina U (2001) Recessive epidermolysis bullosa dystrophicans (Hallopeau-Siemens)--improvement of wound healing by autologous epidermal grafts on an esterified hyaluronic acid membrane. J Dermatol 28: 217-220
Incoming links (8)Aa-type amyloidosis; Anonychie acquired; Dermolytic bullous dermatosis (recessive); Dystrophic epidermolysis bullosa ; Epidermolysis bullosa dystrophica recessive non-hallopeau-siemens; Hallopeau-siemens syndrome; Sepsis skin changes; Siemens, hermann werner;
Outgoing links (11)Chloroquine; Ciclosporin a; Dadps; Dystrophic epidermolysis bullosa ; Epidermolysis bullosa hereditaria (overview); Melanoma cutaneous; Milia; Nikolsky phenomenon i; Onychodystrophy (overview); Phenytoin; ... Show all
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