Last update 01 Nov 2024

Epidermolysis Bullosa, Lethal Acantholytic

Last update 01 Nov 2024

Basic Info

Synonyms

EBLA, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, Epidermolysis bullosa, lethal acantholytic

+ [6]

Introduction

A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized oozing erosions, usually in the absence of blisters. Onset of the disease is at birth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity and gastrointestinal, genitourinary and respiratory tract abnormalities. The disease is due to mutations in the DSP (6p24) gene encoding desmoplakin. Transmission is autosomal recessive.

Drugs associated with Epidermolysis Bullosa, Lethal Acantholytic

TAY-R2

Target-

Mechanism-

Active Org.

Tay Therapeutics Ltd

Originator Org.

Tay Therapeutics Ltd

Active Indication

Cystic Fibrosis [+1]

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with Epidermolysis Bullosa, Lethal Acantholytic

100 Translational Medicine associated with Epidermolysis Bullosa, Lethal Acantholytic

0 Patents (Medical) associated with Epidermolysis Bullosa, Lethal Acantholytic

Literatures (Medical) associated with Epidermolysis Bullosa, Lethal Acantholytic

01 Feb 2019·Journal of Cosmetic DermatologyQ4 · MEDICINE

A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma

Q4 · MEDICINE

Article

Author: Xue, Ke ; Cui, Yong ; Zheng, Yajie

SummaryBackgroundMutations in the desmoplakin (

DSP

) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK).AimsTo better understand the relationship between PPK and the gene mutations in

DSP

.MethodsA pedigree of PPK was subjected to heterozygous missense mutation analysis in the

DSP

gene. Dermoscopy, reflectance confocal microscopy, and histopathological examination were performed from each epidermis layer in this study. Samples were derived from the blood of patients and normal healthy controls.

DSP

gene sequence analysis and Q‐PCR analysis was performed for evaluating

DSP

gene mutation and expression.ResultsA novel heterozygous missense mutation c.3550 C>T in the coding region of the

DSP

gene, predicting substitution of arginine (Arg,R) by tryptophan (Trp,W) in the desmoplakin polypeptide, was discovered in a Chinese pedigree of PPK. In the meanwhile, this mutation was not found in 100 healthy individuals.ConclusionsThe novel missense mutation c.3550 C>T(p.Arg1184Trp) of

DSP

gene expanded the mutation spectrum in palmoplantar keratoderma.

01 Oct 2018·The American Journal of DermatopathologyQ4 · MEDICINE

Hailey–Hailey Disease With Coexistent Herpes Virus Infection: Insights Into the Diagnostic Conundrum of Herpetic/Pseudoherpetic Features in Cutaneous Acantholytic Disorders

Q4 · MEDICINE

Article

Author: Panthagani, Anusha P ; Tidman, Michael J ; Biswas, Asok ; Leitch, Claire S

Abstract:The specific histopathologic diagnosis of a primary acantholytic disorder takes into account the distribution and extent of acantholysis, presence or absence of dyskeratosis, nature of the dermal inflammatory cell infiltrate, and immunofluorescence findings. Herpes virus infection is a common cause of secondary acantholysis where distinctive viral cytopathic changes aid in making it a clear-cut diagnosis in majority of cases. We present a case of coexistence of Hailey–Hailey disease and herpes simplex virus infection to compare and contrast their histopathologic features. This is imperative because acantholytic cells from primary acantholytic disorders may occasionally show cytological features traditionally associated with herpes virus infection (pseudoherpetic changes). The objective of this article is to create a greater awareness of pseudoherpetic changes and also to explore the clinical significance of coexistence of a primary acantholytic disorder and herpes virus infection, as in this case.

01 Nov 2017·Journal of the American Academy of DermatologyQ1 · MEDICINE

Atypical features and systemic associations in extensive cases of Grover disease: A systematic review

Q1 · MEDICINE

Review

Author: Goldberg, Matthew ; Ryu, Jubin ; Gantz, Madeleine ; Shinkai, Kanade ; McCalmont, Timothy ; Butler, Daniel

BACKGROUNDGrover disease is an acantholytic disorder that typically occurs on the trunk of older individuals, primarily white men, in association with heat and xerosis. Cases with extensive and/or atypical distributions have been reported.OBJECTIVETo review the literature characterizing the population, morphology, associations, and disease course of extensive or atypical eruptions of Grover disease.METHODSA systematic literature review identified 50 articles with 69 cases.RESULTSPatient age ranged from 14 to 83 years (mean age, 56 ± 15), with 71% of patients being male and 29% female. Areas of involvement included the trunk (90%), upper and lower extremities (63% and 61%, respectively), face/scalp (28%), neck (21%), groin (11%), buttocks (8%), and axillae (6%). The most common associations included a history of malignancy (61%), recent chemotherapy (38%), and recent transplant (20%).LIMITATIONSExtensive cases with typical clinical morphology may not have been examined by biopsy or reported; thus, this review may have publication bias toward more severe or atypical presentations.CONCLUSIONSGreater variability exists among patients affected by extensive or atypical Grover disease than among those with typical disease. Malignancy is a common association, and there may be a role for immunosuppression in the pathogenesis of extensive or atypical Grover disease.

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