A case of a patient with severe epidermolysis bullosa surviving to adulthood

Hubail, Amal R; Belkharoeva, R.Kh.; Tepluk, Natalya P; Grabovskaya, O. V.

doi:10.2147/ijgm.s180464

Cited by 5 publications

(5 citation statements)

References 14 publications

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“…They typically appear primarily at the zones of trauma or pressure (hands and feet) but may also be obesrved in mouth, esophagus, trachea, gastrointestinal and genitourinary tract and ocular mucous membranes. Furthermore, in some EB subtypes, changes in nails and hair can be observed [61,63]. (Figure 3C,D)…”

Section: Epidermolysis Bullosamentioning

confidence: 93%

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Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Cantile

Coppola

Caponio

et al. 2021

JCM

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Genodermatoses represent a group of uncommon, hereditary, single-gene skin disorders, characterized by multisystem involvement, heterogeneous clinical manifestations and different degrees of morbidity and mortality. Some genodermatoses may have oral mucosa and nail involvement, since the oral cavity and cutaneous organ system, including nails, share a close embryologic origin. Nail disorders can manifest with nail hypoplasia or nail hypertrophy. Clinical pictures of affected oral mucosa can be extremely heterogeneous, ranging from asymptomatic papules to painful blisters, leukokeratosis, oral papillomas and fibromas to oral potentially malignant disorders and cancerous lesions. Oral mucosa and nails pathological features may occur synchronously or not and are usually associated with other systemic and skin manifestations. In some cases, oral mucosa and nails diseases may be distinct and constitute the principal sign of the genetic disorder, in other cases they represent only a part of the puzzle for the confirmation of the diagnosis. Continued awareness of the correlation between oral mucosa and nails findings can help physicians to diagnose genodermatosis in a timely manner, allowing more effective clinical management and prevention and/or early detection of complications. This article provides an overview of all specific genodermatoses affecting both oral mucosa and nails. Moreover, the correlation between teeth and nails is summarized in tabular form.

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Section: Epidermolysis Bullosamentioning

confidence: 93%

“…Diagnosis can be clinical on the basis of family history. Otherwise, a histological examination with immunofluorescence is necessary [63].…”

Section: Epidermolysis Bullosamentioning

confidence: 99%

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Cantile

Coppola

Caponio

et al. 2021

JCM

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“…Blisters usually occur at the sites of trauma or pressure, which are primarily the hands, feet, and diaper area in children, but may also present in the mouth, gastrointestinal tract, or genitalia [2]. EB is generally classified into four types as follows: 1) simplex EB with blisters within the epidermis, 2) dystrophic epidermolysis bullosa (DEB), 3) junctional EB with blisters in the epidermal dermal junction, and 4) Kindler syndrome with blisters at multiple levels of the skin [3,4]. Epidermolysis bullosa simplex is characterized by blisters caused by mechanical trauma and irritation on the skin.…”

Section: Introductionmentioning

confidence: 99%

Two-days Old Newborn with Epidermolysis Bullosa Simplex: Severe Subtype

et al. 2024

IJFMR

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This case report details a rare instance of severe epidermolysis bullosa simplex (EBS) in a two-day-old neonate with distinctive clinical features. The patient exhibited extensive blistering on the hands, tongue, face, and ears, prompting admission to the Neonatal Intensive Care Unit. Ge-netic testing confirmed a heterozygous dominant negative mutation on the KRT14 gene, confirming the diagnosis of severe EBS. Laboratory findings revealed leukocytosis and electrolyte abnormalities, while biopsy examination showcased subepidermal blisters. The neonate received supportive management, including nasogastric tube feeding and wound care, resulting in improvement and subsequent discharge with a follow-up plan. Discussion delves into EB classification, emphasizing the unique features of severe EBS. A succinct comparison table outlines clinical distinctions among localized, intermediate, severe, and mottled pigmentation EBS. This case highlights the complexities in diagnosing and managing severe EBS in neonates and advocates for further research to establish comprehensive treatment guidelines, especially in newborns, and explore emerging therapies for epidermolysis bullosa.

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“…Children's hands, feet, and diaper areas are the most common places for blisters to develop (at the sites of trauma or pressure), although they can also develop in the mouth, gastrointestinal system, or genitalia. Co-occurring disorders in EB patients may include fused digits and clubbed hands or feet [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Occam's Razor Versus Hickam's Dictum: A Case Report of Junctional Epidermolysis Bullosa and Lower Urinary Tract Infection

Raza¹,

Zia²,

Farahi³

et al. 2023

Cureus

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Epidermolysis bullosa (EB) is a rare heterogeneous group of diseases which typically presents with extensive blistering and mucocutaneous erosions. EB is mechanobullous in nature and thus commonly involves sites of trauma and friction. It is a painful and disfiguring disorder. The involvement of different internal organs and systems, such as respiratory, genitourinary, and gastrointestinal systems, has been reported in the literature depending on the type of EB. We report a case of junctional epidermolysis bullosa (JEB) with urogenital involvement in a female child in Pakistan. JEB is a rare subtype of EB which is transmitted in an autosomal recessive pattern of inheritance. It classically affects neonates. Diagnosis is established after clinical examination, and investigations are directed at the exploration of skin lesions such as histopathological and direct immunofluorescence studies. Management of patients is primarily supportive.

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A case of a patient with severe epidermolysis bullosa surviving to adulthood

Cited by 5 publications

References 14 publications

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Two-days Old Newborn with Epidermolysis Bullosa Simplex: Severe Subtype

Occam's Razor Versus Hickam's Dictum: A Case Report of Junctional Epidermolysis Bullosa and Lower Urinary Tract Infection

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