Recessive dystrophic epidermolysis bullosa (RDEB) complicated by secondary hepatic amyloidosis

Chaptini, Cassandra; Casey, Genevieve; Harris, Andrew G.; Murrell, Dédée F.; Gordon, Lynne Thomas

doi:10.1016/j.jdcr.2015.07.006

Cited by 4 publications

(3 citation statements)

References 8 publications

(11 reference statements)

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“…Rarely, hepatic amyloidosis can present with manifestations of portal hypertension including caput (18), ascites (19) or variceal bleeding (20). Portal hypertension is usually of the sinusoidal type, with an elevated gradient between wedged and free hepatic pressure and related to the reduction of the vascular space of hepatic sinusoids by massive perisinusoidal amyloid deposits (21).…”

Section: Discussionmentioning

confidence: 99%

Hepatic amyloidosis: a prevalence study and clinical characterization of a rare and severe disease

Dias¹,

Cardoso²,

Marques³

et al. 2022

Rev Esp Enferm Dig

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Background and aim: amyloidosis is a systemic disease characterized by extracellular deposition of amyloid protein, most commonly in the heart and kidney. Hepatic amyloidosis is a rare form of presentation that ranges from mild hepatomegaly and altered liver biochemical tests to acute liver failure. The aims of this study were to evaluate the prevalence of amyloidosis in patients undergoing liver biopsy and describe its main clinical characteristics and prognostic impact.Methods: a retrospective analysis of all patients with a histological diagnosis of hepatic amyloidosis between January 2010 and December 2019 was performed.Results: seven patients were identified from a total of 1,773 liver biopsy procedures (0.4 %), with a female predominance (6/7) and median age of diagnosis of 62 years.The most common clinical manifestations included hepatomegaly (4/7), jaundice (2/7) and peripheral edema (2/7), whereas 3/7 patients were asymptomatic. Every patient presented abnormalities in liver biochemical tests, more commonly cholestasis (6/7), but also cytolysis (4/7) or hyperbilirubinemia (2/7). Abnormal imaging findings included hepatomegaly, steatosis or parenchymal heterogeneity. In most patients (5/7), other organs were involved, most commonly with nephrotic syndrome (3/7) and infiltrative cardiomyopathy (3/7). The most common type was AA amyloidosis (3/7) followed by AL amyloidosis (2/7). The one-year mortality rate was 43 % and the median survival was 24 months.Conclusions: we report a low prevalence (0.4 %) of amyloidosis among patients undergoing liver biopsy. Although rare, hepatic amyloidosis is associated with a dismal prognosis and a high index of suspicion is crucial to achieve an early diagnosis.

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Section: Discussionmentioning

confidence: 99%

Hepatic amyloidosis: a prevalence study and clinical characterization of a rare and severe disease

Dias¹,

Cardoso²,

Marques³

et al. 2022

Rev Esp Enferm Dig

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“…The third entity reported in EB patients is secondary renal amyloidosis. Unlike the previously mentioned glomerular diseases, nephrotic syndrome is a characteristic feature in amyloidosis [5,7,18–21]. In patients with severe generalized forms of EB, elevated serum amyloid A protein levels may be observed without evidence of renal amyloidosis but the significance of this finding is unclear [19].…”

Section: Discussionmentioning

confidence: 99%

Diffuse membranoproliferative glomerulonephritis with focal sclerosis and renal amyloidosis in an adult male with autosomal dominant dystrophic epidermolysis bullosa: a case report

et al. 2019

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Previous reports of glomerular disease in adult patients with autosomal dominant dystrophic epidermolysis bullosa (EB) are limited and include post-infectious glomerulonephritis, IgA nephropathy, amyloidosis, and leukocytoclastic vasculitis. To our knowledge, membranoproliferative glomerulonephritis (MPGN) has not been described before. We report a case of a 39-year-old male with autosomal dominant dystrophic EB, presenting with bilateral leg swelling of one-week duration. There was no other significant past medical history. The physical examination was remarkable for scars and erosions over all body areas, with all extremities with blisters and ulcers covered, absent finger and toenails and bilateral lower extremity edema. Serum creatinine was 0.9 mg/dL, albumin 1.3 g/dL and urine protein excretion 3.7 g/24 h. Viral markers (hepatitis-B, C, and HIV), complement c3 and c4 levels and auto-immune antibody profile all remained negative or within normal limits. Renal ultrasound and echocardiogram were normal. Renal biopsy recovered 14 glomeruli, all with proliferation of mesangial and endothelial cells as well as an expansion of the mesangial matrix, focal segmental sclerosis and amorphous homogeneous deposits demonstrating apple-green birefringence under polarized light with Congo red stain. Our observation emphasizes the importance of recognizing MPGN and secondary amyloidosis in patients with EB, especially with the availability of newer treatment modalities.

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“…Blistering was extensive from early infancy, causing cutaneous scarring and mitten deformities of hands and feet. She developed known complications of EB, including squamous cell carcinoma, hepatic amyloidosis ( Chaptini et al, 2015 ), premature and extensive dental caries, esophageal strictures, osteoporosis, hypogonadotrophic hypogonadism, and bilateral inferior exposure keratopathy. Previous procedures included surgeries to correct hand contractures, right lower-lid ectropion repair, and regular iron and blood transfusions for anemia.…”

Section: Case Reportmentioning

confidence: 99%

Botulinum toxin A injection for chronic anal fissures and anal sphincter spasm improves quality of life in recessive dystrophic epidermolysis bullosa

Chaptini

Casey

Harris

et al. 2015

International Journal of Women's Dermatology

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We report a 20-year-old female with generalized, severe, recessive dystrophic epidermolysis bullosa who developed secondary chronic anal fissures. This resulted in anal sphincter spasm and severe, disabling pain. She was treated with five botulinum toxin A injections into the internal anal sphincter over a period of 2 years and gained marked improvement in her symptoms. This case demonstrates the successful use of botulinum toxin A injections to relieve anal sphincter spasm and fissuring, with long-term improvement.

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Recessive dystrophic epidermolysis bullosa (RDEB) complicated by secondary hepatic amyloidosis

Cited by 4 publications

References 8 publications

Hepatic amyloidosis: a prevalence study and clinical characterization of a rare and severe disease

Hepatic amyloidosis: a prevalence study and clinical characterization of a rare and severe disease

Diffuse membranoproliferative glomerulonephritis with focal sclerosis and renal amyloidosis in an adult male with autosomal dominant dystrophic epidermolysis bullosa: a case report

Botulinum toxin A injection for chronic anal fissures and anal sphincter spasm improves quality of life in recessive dystrophic epidermolysis bullosa

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