Dermatofibrosarcoma protuberans in a young patient with epidermolysis bullosa: a case report

Abstract Background Epidermolysis bullosa is a group of rare inherited skin diseases characterized by blister formation following mechanical skin trauma. Epidermolysis bullosa is associated with increased skin cancer rates, predominantly squamous cell carcinomas, yet to our best knowledge, there is no reported case of dermatofibrosarcoma protuberans in a patient with Epidermolysis bullosa. Case presentation Here, we present a 26-year-old man with junctional epidermolysis bullosa, who developed a DFSP on the neck. Initial, the skin alteration was mistakenly not considered malignant, which resulted in inadequate safety margins. The complete resection required a local flap to close the defect, which is not unproblematic because of the chronic inflammation and impaired healing potential of the skin due to Epidermolysis bullosa. Conclusions To our best knowledge, this is the first reported case of a skin-associated sarcoma in a patient with EB; however, further investigation is required to verify a correlation.

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Junctional Epidermolysis Bullosa of the Larynx

PEDIATRICS ◽

10.1542/peds.78.1.172 ◽

1986 ◽

Vol 78 (1) ◽

pp. 172-174

Author(s):

MARGARET A. KENNA ◽

SYLVAN E. STOOL ◽

SUSAN B. MALLORY

Keyword(s):

Case Report ◽

Epidermolysis Bullosa ◽

Minor Trauma ◽

Junctional Epidermolysis Bullosa ◽

First Case ◽

New Variant ◽

Genetically Determined ◽

Dermatologic Disease ◽

Hereditary Epidermolysis Bullosa ◽

Laryngeal Involvement

Epidermolysis bullosa is a rare genetically determined, dermatologic disease in which minor trauma causes blister formation.1 A new variant of hereditary epidermolysis bullosa, generalized atrophic benign epidermolysis bullosa, junctional form, has been recently reported.2 Airway involvement has not been a notable feature of this disease. We report the first case of an infant having benign junctional epidermolysis bullosa with laryngeal involvement. CASE REPORT An 11-month-old white boy with known junctional epidermolysis bullosa and mild stridor since birth was referred by his dermatologist for increasing stridor of 24 hours duration. He was initially thought to have croup; however, conservative treatment with mist and racemic epinephrine did not improve his symptoms.

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Junctional Epidermolysis Bullosa: A Case Report

Bangladesh Journal of Child Health ◽

10.3329/bjch.v37i3.18622 ◽

2014 ◽

Vol 37 (3) ◽

pp. 175-178

Author(s):

Lutfan Nessa ◽

Uzere Azam ◽

Partho Sharothy Mazumder ◽

Shabnam Akhter

Keyword(s):

Case Report ◽

Child Health ◽

Epidermolysis Bullosa ◽

Junctional Epidermolysis Bullosa

DOI: http://dx.doi.org/10.3329/bjch.v37i3.18622 Bangladesh J Child Health 2013; Vol.37(3): 175-178

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P23 Multiple squamous cell carcinomas in a patient with junctional epidermolysis bullosa

Journal of Dermatological Science ◽

10.1016/0923-1811(96)83632-2 ◽

1996 ◽

Vol 12 (1) ◽

pp. 93

Author(s):

Andrew N. Lin ◽

Lynne T Smith

Keyword(s):

Squamous Cell ◽

Epidermolysis Bullosa ◽

Squamous Cell Carcinomas ◽

Junctional Epidermolysis Bullosa

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Multiple Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa: A Surgical Challenge

Dermatologic Surgery ◽

10.1111/j.1524-4725.2008.34227.x ◽

2008 ◽

Vol 34 (8) ◽

pp. 1131-1136 ◽

Cited By ~ 1

Author(s):

EVA-BEATRICE MOHR ◽

JÖRN ANDREAS LOHMEYER ◽

NADIA CATHERINE MIKHAIMER ◽

PETER MAILÄNDER ◽

THOMAS SCHWARZ ◽

...

Keyword(s):

Squamous Cell ◽

Epidermolysis Bullosa ◽

Squamous Cell Carcinomas ◽

Junctional Epidermolysis Bullosa

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

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.1803154115 ◽

2018 ◽

Vol 115 (28) ◽

pp. E6536-E6545 ◽

Cited By ~ 16

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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