1.The practical diagnostic approach for hereditary Epidermolysis Bullosa in the era of next generation sequencing
Bryan Edgar K. Guevara ; Wei-Ting Tua ; Ping-Chen Hou ; Hsin-Yu Huang ; Jessica Chen ; Chao-Kai Hsu
Journal of the Philippine Dermatological Society 2019;28(1):6-9
The new era of molecular diagnostics has provided new insights in both routine clinical work and research in hereditary epidermolysis bullosa
(EB). Several different approaches and techniques have provided significant advantages in terms of diagnostic accuracy, predict- ing prognoses,
clarifying the pathogenesis, and developing new therapies. In many developing countries, however, modern laboratory techniques remain
inaccessible. Therefore, a practical diagnosticmatrix has been developed to predictthe diagnosis and subtype of EB. In thisreview,we highlight
themolecular and practicaltechniquesin diagnosing hereditary EB.
Epidermolysis Bullosa
2.A Case of Epidermolysis Bullosa Letalis.
Sang Taek LEE ; Chang Ho HAN ; Soo Young KIM ; Jung Kwon LEE ; Young Dae KWON ; Han Ik BAE
Journal of the Korean Pediatric Society 1987;30(7):818-825
No abstract available.
Epidermolysis Bullosa*
;
Epidermolysis Bullosa, Junctional*
3.Localized Epidermolysis Bullosa Acquisita Limited to the Face.
Myung Hoon LEE ; Ji Young YOO ; You Bum SONG ; Moo Kyu SUH ; Tae Jung JANG ; Soo Chan KIM
Korean Journal of Dermatology 2013;51(12):990-991
No abstract available.
Epidermolysis Bullosa Acquisita*
;
Epidermolysis Bullosa*
4.A Case of Epidermolysis Bullosa Dystrophica.
Soon Yol HWANG ; Jeong Sil HAN ; Gu Seok JUNG ; Sung Won KIM ; Kil HYUN ; Chung Hee CHI
Journal of the Korean Pediatric Society 1987;30(9):1049-1054
No abstract available.
Epidermolysis Bullosa Dystrophica*
;
Epidermolysis Bullosa*
5.A Case of Recessive Epidermolysis Bullosa Dystrophica.
Young Tae KIM ; Hak Won KIM ; Seung Hee OH ; Soo Jee MOON ; Chan Kum PARK
Journal of the Korean Pediatric Society 1990;33(8):1111-1116
No abstract available.
Epidermolysis Bullosa Dystrophica*
;
Epidermolysis Bullosa*
6.Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing.
Nadia LAROUSSI ; Olfa MESSAOUD ; Mariem CHARGUI ; Chaima BEN FAYALA ; Abdelaziz ELAHLAFI ; Mourad MOKNI ; Anu BASHAMBOO ; Kenneth MCELREAVEY ; Mohamed Samir BOUBAKER ; Houda YACOUB YOUSSEF ; Sonia ABDELHAK
Annals of Dermatology 2017;29(2):243-246
No abstract available.
Epidermolysis Bullosa*
;
Exome*
;
Humans
7.Pain in Patients with Dystrophic Epidermolysis Bullosa: Association with Anxiety and Depression.
Giulio FORTUNA ; Massimo ARIA ; Rodrigo CEPEDA-VALDES ; Maria Guadalupe MORENO TREVINO ; Julio Cesar SALAS-ALANÍS
Psychiatry Investigation 2017;14(6):746-753
OBJECTIVE: We investigate the presence and the quality of pain in patients with dystrophic epidermolysis bullosa (DEB), and its correlation with the level of anxiety and depression. METHODS: We collected data from 27 DEB patients and 26 healthy individuals. DEB patients and controls completed 1 scale for the quality of pain, and 1 scale for anxiety and depression. Pain was assessed with the short form of the McGill Pain Questionnaire, whereas anxiety and depression were assessed with the Hamilton rating scale for anxiety and depression. RESULTS: DEB patients and healthy control individuals were homogeneous for age and gender (p>0.05). A statistically significant difference in the two groups was seen for sensory pain rating scale (p<0.001), affective pain rating scale (p=0.029), total pain rating scale (p<0.001), visual analogue scale (p=0.012) and present pain intensity (p=0.001), but not for anxiety (p=0.169) and depression (p=0.530). The characteristics of pain that showed a significant difference between DEB patients and healthy controls were shooting, splitting, tender and throbbing (p<0.05). In DEB patients pain was not correlated with anxiety or depression (p>0.05), whereas a slight correlation between pain and anxiety was found in healthy controls (p<0.05). No difference was found between quality of pain and anxiety-depression in DEB patients (p>0.05), but was between the DEB dominant and the recessive form of DEB (p=0.025). CONCLUSION: The perception of pain in DEB patients appears greater than in healthy individuals, with splitting and tender characteristics being the most significant ones, but was not associated with anxious and/or depressive symptoms.
Anxiety*
;
Depression*
;
Epidermolysis Bullosa
;
Epidermolysis Bullosa Dystrophica*
;
Humans
;
Pain Measurement
8.A Case of Epidermolysis Bullosa Simplex ( Dowling - Meara Type ).
Korean Journal of Dermatology 1994;32(4):735-739
The Dowling-Meara type of epidermolysis bullosa simplex(EBS) is genetic disease that is transmitted as an autosomal dominant trait and is charscterized clinically by pherpetiform clustering of blisters and palmo-plantar keratoderma. The disease usually presents at with or in early infancy. Although serious and hemorrhagic Wers may occur on any part of the body, the lesions heal without scaning in general. The disease shows a tendency to improve by progressian of age and it usually follows a relatively benign course. Microecopically, there are intraepidermal bli.ter s forming as a result of cytolysis of basal cells. In addition, the is a highly characteristic clumping of tonofilaments of keratinocytes in the lower epidermis, which is not seen in any other form of EBS. We report a case of Dowling-Meara type of EBS that is first destribed in Korean medical literatures.
Blister
;
Epidermis
;
Epidermolysis Bullosa Simplex*
;
Epidermolysis Bullosa*
;
Intermediate Filaments
;
Keratinocytes
9.Epidermolysis Bullosa Acquisita: A Complete Remissions versus Patients with Long-term Persistent Activities.
Dong Kyu HWANG ; Chang Woo LEE
Korean Journal of Dermatology 1999;37(6):715-718
BACKGROUND: In epidermolysis bullosa acquisita, it has been recognized that there exists heterogeneity in the clinical and serologic/immunopathologic features. OBJECTIVE: We examined patients with epidermolysis bullosa acquisita to see if there were any associated clinical and serological features which may predict disease activity or prognosis in the disease. METHODS: Clinical and some serologic features were compared. between 2 groups of patients with epidermolysis bullosa acquisita; one with complete remission of the symptoms and signs of the disease for more than 2 years and the other group with persistent disease activities of longer than 5 years.
Epidermolysis Bullosa Acquisita*
;
Epidermolysis Bullosa*
;
Humans
;
Population Characteristics
;
Prognosis
10.Epidermolysis Bullosa Pruriginosa in a 12-year-old male: A case report
Agustin Miguel P. Soriano ; Mae Ramirez-Quizon
Journal of the Philippine Medical Association 2024;102(2):81-88
Introduction:
Epidermolysis Bullosa Pruriginosa (EBP) is a rare subtype of the inherited Dystrophic ~ Epidermolysis Bullosa spectrum of diseases and results from a gene mutation in COL7AL Though predominantly an autosomal dominant disease, autosomal recessive and even sporadic have been reported.
Case Summary:
Case Summary:We report a case of a 12-year-old Filipino male presenting with a chronic history of numerous scratching-induced blisters predominantly distributed on the extensor aspect of his arms and legs without concomitant oral lesions, nail dystrophy, or hair findings, and without a family history of similar lesions. Histopathologic assessment, Direct Immunofluorescence (DIF), and Indirect Immunofiuorescence (IIF) showed a subepidermal split with scant inflammatory infiltrates, no immunofluorescence, and absent userrated linear immunofluorescence at the dermal-side of the Salt Split Skin slide, respectively, which were all consistent with EBP. Enzyme-Linked Immunosorbent Assay (ELISA) for Anti-Collagen VII antibodies was slightly elevated, which may suggest an alternative diagnosis of Epidermolysis Bullosa Acquisita (EBA). This slight elevation may be due to the mutated Collagen Vil protein becoming antigenic and therefore provoking an immune response. To conclusively distinguish EBP from EBA, a COL7AI gene mutation analysis was recommended. With a diagnosis of EBP cannot totally rule out EBA, the patient was initially managed with dapsone monotherapy, counseled regarding behavioral modification to reduce scratching and trauma, advised wound care and close monitoring for the development of oropharyngeal lesions, and recommended for COL7A1 genetic mutation analysis.
Conclusion
This report demonstrates a case of EBP
with elevated Anti-Collagen VII antibodies. The
diistinction between EBP and EBA is important
because this changes the management: EBP is
largely supportive, while EBA may benefit from
immunosuppressive therapy.
Epidermolysis Bullosa Pruriginosa
;
Enzyme-Linked Immunosorbent Assay
;
Epidermolysis Bullosa Acquisita