Epidermolysis Bullosa Inversa Dystrophica

Last update 01 Nov 2024

Basic Info

Synonyms

Epidermolysis bullosa inversa dystrophica, JEB inversa, JEB-I

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Introduction

A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.

100 Clinical Results associated with Epidermolysis Bullosa Inversa Dystrophica

100 Translational Medicine associated with Epidermolysis Bullosa Inversa Dystrophica

0 Patents (Medical) associated with Epidermolysis Bullosa Inversa Dystrophica

Literatures (Medical) associated with Epidermolysis Bullosa Inversa Dystrophica

01 Nov 2022·Acta dermatovenerologica Croatica : ADC

Dystrophic Epidermolysis Bullosa Inversa - Case Report and Review of the Literature.

Review

Author: Merzel Šabović, Eva Klara ; Wechtersbach, Karmen ; Luzar, Boštjan ; Dolenc-Voljč, Mateja

Dystrophic epidermolysis bullosa inversa is a very rare subtype of inherited dystrophic epidermolysis bullosa with a unique clinical manifestation. Generalized blistering in the neonatal period and in early infancy improves with age, with lesions becoming restricted to intertriginous areas, axial parts of the trunk, and mucous membranes. In contrast to other variants of dystrophic epidermolysis bullosa, the inverse type has a more favorable prognosis. We present a case of a 45-year-old female patient with dystrophic epidermolysis bullosa inversa, diagnosed in adulthood based on typical clinical presentation, transmission electron microscopic findings, and genetic analysis. Additionally, genetic analysis revealed that the patient also suffered from Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy. To our knowledge, the coexistence of these two genetic diseases has not been reported so far. We describe clinical and genetic findings in the patient and review previous reports on dystrophic epidermolysis bullosa inversa. A possible temperature-related pathophysiology for the peculiar clinical manifestation is discussed.

01 Feb 2015·International Journal of Women's Dermatology

Prevalence of anemia in patients with epidermolysis bullosa registered in Australia

Article

Author: Davey, Jessica ; Daniel, Benjamin S ; Hwang, Shelley Ji Eun ; Murrell, Dédée F ; Fergie, Bonnie

BACKGROUNDAnemia is a common complication of epidermolysis bullosa (EB). To date, no extensive data on the prevalence of anemia in EB patients have been well characterized worldwide.OBJECTIVETo determine and to characterize the prevalence of anemia in the Australian EB population by conducting a retrospective cross-sectional study.METHODSAll (n = 368) EB patients registered in the Australasian Epidermolysis Bullosa Registry (AEBR) from 2006 to 2012 were reviewed for pathological evidence of anemia. Patients with EB without anemia and those without hematological parameters were excluded from the study. Patients' particulars were separated into pediatric (< 18 years old) and adult (≥ 18 years old) male and female subgroups.RESULTSOne-hundred sixty-nine out of 368 EB patients had eligible blood results to be analyzed, as milder forms of EB did not routinely have laboratory testing; 27.8% (n = 47/169) of EB patients were anemic at any time point in their lifetime. All generalized severe junctional EB (JEB-GS) cases (100%, n = 4/4); 68.0% (n = 17/25) of recessive dystrophic EB (RDEB); and 37.5% (n = 6/16) of generalized intermediate JEB (JEB-I) patients were anemic.LIMITATIONSAs EB is an orphan disease, the limited sample size may have affected the significance of the study result.CONCLUSIONThe high prevalence of anemia seen in RDEB and JEB generalized severe (JEB-GS) patients in our cohort is similar to those reported in case series.

01 Jan 2015·Polish Journal of Cardio-Thoracic Surgery

Novel variant of dual left anterior descending artery arising from single right coronary artery anomaly presenting with angina inversa

Author: Iyisoy, Atilla ; Arslan, Gokhan ; Bingol, Hakan ; Cingoz, Faruk

A 55-year-old female without a history of coronary artery disease, hypertensive for the past 17 years, was admitted with resting chest pain. Electrocardiography revealed a negative T-wave in anterior chest leads. Coronary angiography visualised anomalous coronary anatomy, with a common origin of the right coronary artery and the left main coronary artery in the right sinus of Valsalva serving as a common coronary trunk. It should be emphasised that T-wave abnormalities and chest angina may be related to this congenital coronary anomaly.

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Epidermolysis Bullosa Inversa Dystrophica

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