scholarly journals Precision Medicine for Heritable Skin Diseases—The Paradigm of Epidermolysis Bullosa

2018 ◽  
Vol 19 (2) ◽  
pp. S74-S76 ◽  
Author(s):  
Jouni Uitto ◽  
Velina S. Atanasova ◽  
Qiujie Jiang ◽  
Andrew P. South
Keyword(s):  
Precision Medicine ◽  
Epidermolysis Bullosa ◽  
Skin Diseases ◽  
Heritable Skin Diseases

scholarly journals Staphylococcal Scalded Skin Syndrome in Healthy Infant

2021 ◽  
Vol 5 (4) ◽  
pp. 1142-1150
Author(s):  
Anggia Perdana Harmen ◽  
Eny Yantri
Keyword(s):  
Staphylococcus Aureus ◽  
Toxic Epidermal Necrolysis ◽  
Otitis Media ◽  
Epidermolysis Bullosa ◽  
Erythema Multiforme ◽  
Skin Diseases ◽  
Chemical Burns ◽  
Staphylococcal Scalded Skin Syndrome ◽  
Focus Of Infection ◽  
Blistering Skin Disorders

Staphylococcal scalded skin syndrome (SSSS) describes a spectrum of superficial blistering skin disorders caused by the exfoliative toxins of Staphylococcus aureus that originates from a focus of infection that may be a purulent conjunctivitis, otitis media, or occult nasopharyngeal infection. It usually begins with fever, irritability, and a generalized, paint, orange-red, macular erythema with cutaneous tenderness, and the rash progress from scarlatiniform to a blistering eruption in 24 to 48 hours. A diagnosis must distinguish SSSS from other skin diseases, such as toxic epidermal necrolysis, epidermolysis bullosa, bullous erythema multiforme, Streptococcal impetigo or listeriosis and thermal or chemical burns, all of which can manifest with similar symptoms. The prognosis of SSSS in children who are appropriately treated is good, with a mortality of less than 5%. A case was a three moths old boy hospitalized in Pediatric ward M. Djamil hospital with chief complain redness and peeling of the skin since 2 days before hospitalized. Culture of the skin, eyes and nose was Staphylococcus aureus, and patients was given ampicillin and gentamycin for seven days.

scholarly journals Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa

2018 ◽  
Vol 115 (28) ◽  
pp. E6536-E6545 ◽  
Author(s):  
Vadim Lincoln ◽  
Jon Cogan ◽  
Yingping Hou ◽  
Michaela Hirsch ◽  
Michelle Hao ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Skin Diseases ◽  
Growth Potential ◽  
Equivalent Model ◽  
Expression Vectors ◽  
Loss Of Function ◽  
Nonsense Mutations ◽  
Poor Growth ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 332

Herlitz junctional epidermolysis bullosa (H-JEB) is an incurable, devastating, and mostly fatal inherited skin disease for which there is only supportive care. H-JEB is caused by loss-of-function mutations in LAMA3, LAMB3, or LAMC2, leading to complete loss of laminin 332, the major component of anchoring filaments, which mediate epidermal-dermal adherence. LAMB3 (laminin β3) mutations account for 80% of patients with H-JEB, and ∼95% of H-JEB–associated LAMB3 mutations are nonsense mutations leading to premature termination codons (PTCs). In this study, we evaluated the ability of gentamicin to induce PTC readthrough in H-JEB laminin β3-null keratinocytes transfected with expression vectors encoding eight different LAMB3 nonsense mutations. We found that gentamicin induced PTC readthrough in all eight nonsense mutations tested. We next used lentiviral vectors to generate stably transduced H-JEB cells with the R635X and C290X nonsense mutations. Incubation of these cell lines with various concentrations of gentamicin resulted in the synthesis and secretion of full-length laminin β3 in a dose-dependent and sustained manner. Importantly, the gentamicin-induced laminin β3 led to the restoration of laminin 332 assembly, secretion, and deposition within the dermal/epidermal junction, as well as proper polarization of α6β4 integrin in basal keratinocytes, as assessed by immunoblot analysis, immunofluorescent microscopy, and an in vitro 3D skin equivalent model. Finally, newly restored laminin 332 corrected the abnormal cellular phenotype of H-JEB cells by reversing abnormal cell morphology, poor growth potential, poor cell-substratum adhesion, and hypermotility. Therefore, gentamicin may offer a therapy for H-JEB and other inherited skin diseases caused by PTC mutations.

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