Otorhinolaryngological and esophageal manifestations of epidermolysis bullosa

Fantauzzi, Rodrigo Santana; Maia, Mariana Oliveira; Cunha, Flávia Coelho; Simões, Rodrigo Vidal; Gonçalves, Denise Utsch; Maia, Amélio Ferreira

doi:10.1016/s1808-8694(15)31373-2

Cited by 5 publications

(5 citation statements)

References 17 publications

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“…Strictures and stenoses of the anus, pulmonary artery, nostril, urethra, anterior commissure, pylorus, larynx, and rectum were reported in 0.2% to 15% of patients with RDEB in five studies (Table 1) [22,27,29,30,52]. In two analyses of the US National EB Registry (N = 422-425), the lifetime cumulative risk of esophageal strictures was much higher than risk of laryngeal stenoses and strictures (Table 2) [29,30].…”

Section: Strictures and Stenosesmentioning

confidence: 99%

“…In three studies of neonates with RDEB, the vast majority of infants developed blisters within one week of birth (range of 70% to 94%; Table 1) [16,33,35]. Five studies reported on the incidence of oral blisters or lesions in patients with RDEB [21,22,33,43,48]. The proportion of patients experiencing these lesions ranged from 79 to 100% [33,43,48].…”

Section: Wound Burdenmentioning

confidence: 99%

“…The proportion of patients experiencing these lesions ranged from 79 to 100% [33,43,48]. Blisters and lesions of the nail, lip, esophagus, nostril, eyelid, ear canal, or larynx were reported in three studies [22,43,51].…”

Section: Wound Burdenmentioning

confidence: 99%

“…2b) compared to patients with vulvodynia (50 [20]), dermatomyositis (45 [27]), eczema (41 [27]), acne vulgaris (41 [25]), psoriasis (39 [27]), rosacea (33 [20]), and alopecia (27 [33]) as well as people without skin disease (9 [13]); significance not reported Patients with RDEB had the highest function scale score (77 [12]; Fig. 2b) compared to patients with vulvodynia (44 [22]), dermatomyositis (28 [29]), eczema (26 [26]), psoriasis (23 [27]), acne vulgaris (16 [16]), rosacea (16 [18]), and alopecia (14 [23]) as well as people without skin disease (4 [8]); significance not reported [21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36]; p = 0.031), JEB (30 [22][23][24][25][26][27][28][29][30]…”

Section: Impact On Families and Caregiversmentioning

confidence: 99%

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A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

Tang¹,

Marinkovich²,

Lucas³

et al. 2021

Orphanet J Rare Dis

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Background/objective Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic collagen disorder characterized by skin fragility leading to blistering, wounds, and scarring. There are currently no approved curative therapies. The objective of this manuscript is to provide a comprehensive literature review of the disease burden caused by RDEB. Methods A systematic literature review was conducted in MEDLINE and Embase in accordance with PRISMA guidelines. Observational and interventional studies on the economic, clinical, or humanistic burden of RDEB were included. Results Sixty-five studies were included in the review. Patients had considerable wound burden, with 60% reporting wounds covering more than 30% of their body. Increases in pain and itch were seen with larger wound size. Chronic wounds were larger and more painful than recurrent wounds. Commonly reported symptoms and complications included lesions and blistering, anemia, nail dystrophy and loss, milia, infections, musculoskeletal contractures, strictures or stenoses, constipation, malnutrition/nutritional problems, pseudosyndactyly, ocular manifestations, and dental caries. Many patients underwent esophageal dilation (29–74%; median dilations, 2–6) and gastrostomy tube placement (8–58%). In the severely affected population, risk of squamous cell carcinoma (SCC) was 76% and mortality from SCC reached 84% by age 40. Patients with RDEB experienced worsened quality of life (QOL), decreased functioning and social activities, and increased pain and itch when compared to other EB subtypes, other skin diseases, and the general population. Families of patients reported experiencing high rates of burden including financial burden (50–54%) and negative impact on private life (79%). Direct medical costs were high, though reported in few studies; annual payer-borne total medical costs in Ireland were $84,534 and annual patient-borne medical costs in Korea were $7392. Estimated annual US costs for wound dressings ranged from $4000 to $245,000. Patients spent considerable time changing dressings: often daily (13–54% of patients) with up to three hours per change (15–40%). Conclusion Patients with RDEB and their families/caregivers experience significant economic, humanistic, and clinical burden. Further research is needed to better understand the costs of disease, how the burden of disease changes over the patient lifetime and to better characterize QOL impact, and how RDEB compares with other chronic, debilitating disorders.

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Section: Strictures and Stenosesmentioning

confidence: 99%

Section: Wound Burdenmentioning

confidence: 99%

Section: Wound Burdenmentioning

confidence: 99%

Section: Impact On Families and Caregiversmentioning

confidence: 99%

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A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

Tang¹,

Marinkovich²,

Lucas³

et al. 2021

Orphanet J Rare Dis

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“…Fantauzzi et al 1 described auricular localization of this disorder as rare since they reported only 2 cases out of 60 patients.…”

Section: Introductionmentioning

confidence: 99%

Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment

Milani

Pace

Iannella

et al. 2022

Clin Med Insights Case Rep

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Epidermolysis bullosa (EB) is a family of rare genetic disorders affecting the skin and mucous membranes, causing blisters and lesions. Its treatment is based on the prevention of traumatic events that could favor the onset of blisters as well as careful wound care. New therapies, including gene therapy, are under investigation. In the case described here, a rare localization of EB at the level of the ear canal is described. To our knowledge, no surgical option for treatment has previously been described in the literature. The clinical features observed and the therapeutic modalities adopted are presented and discussed. A 56-year-old female patient came to our attention for bilateral progressive hearing loss. The patient was suffering from Dystrophic EB. Surgical correction of the stenosis through a retroauricular approach was planned, with the simultaneous reconstruction of the right external auditory canal using the canaloplasty technique combined with Thiersch skin grafting. The case we report here is, to our knowledge, the second describing the surgical treatment of ear canal stenosis secondary to EB. As a result of surgical correction of the stenosis, the ear regained its physiological function and there was an improvement in hearing. In the subsequent post-operative controls, there was no recurrence of the disease, from which the patient is still free 36 months after surgery. Although conservative treatment is a solid choice, our experience seems to indicate that the surgical option allows better management of the Dystrophic EB in the external auditory canal.

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Esophageal and Gastric Involvement in Systemic and Cutaneous Diseases

2016

Practical Gastroenterology and Hepatology Board Review Toolkit

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Otorhinolaryngological and esophageal manifestations of epidermolysis bullosa

Abstract: EB is a rare disease and patients must be sent for treatment at reference centers. Physicians treating patients for EB must be aware of the measures required to improve the quality of the treatment provided without putting the patients in harm's way.

Cited by 5 publications

References 17 publications

A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment

Esophageal and Gastric Involvement in Systemic and Cutaneous Diseases

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