From the Division of General and Thoracic Pediatric Surgery, Division of Pediatric Dermatology, and the Epidermolysis Bullosa Center, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, Great Ormond Street Hospital for Children, London, UK, St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK, Departments of Hand Surgery and Dentistry, Clínica A...

Recessive dystrophic epidermolysis bullosa (RDEB) is among the most serious rare skin diseases. It is also the rare skin disease for which most effort has been expended in developing advanced therapeutic interventions. RDEB is caused by collagen VII deficiency resulting from COL7A1 mutations. Therapeutic approaches seek to replenish collagen VII and thus restore dermal-epidermal adhesion. Thera...

This article is the second in a series of three focusing on the causes, clinical presentation, complications and care of adult patients affected by epidermolysis bullosa (EB) – a group of rare genetic skin fragility disorders. The emphasis of this article will be on the nursing care of adults with recessive dystrophic EB (RDEB). RDEB patients are never ‘wound free’ and the challenge to provide ...

Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical feat...

Mitotic gene conversion acting as reverse mutation has not been previously demonstrated in human. We report here that the revertant mosaicism of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic gene conversion of one of the two mutated COL17A1 alleles. Specifically, the maternal allele surrounding...

OBJECTIVE To describe a nonconventional diagnostic technique used to diagnose a case of cicatrizing conjunctivitis associated with epidermolysis bullosa acquisita. METHODS Direct immunofluorescence of a biopsy specimen of the patient's conjunctiva was performed using fluorescein-conjugated rabbit antihuman antibodies against IgA, IgG, and IgM; complement C3; and fibrinogen. Immunoblot assay u...

Carmi syndrome is a rare autosomal recessive disorder comprising congenital pyloric atresia (PA) and epidermolysis bullosa (EB). This association (EB–PA) was described by Swinborne and Kolher in 1968, whereas the genetic analysis was contributed by Carmi and hence the name.1 The basic feature is a defect affecting the integrity of the basement membrane and hemidesmosomes and the control over th...

Junctional epidermolysis bullosa (JEB) is an autosomal recessive, clinically and genetically heterogeneous disorders (1). A variety of extracutaneous complications may also arise, including gastrointestinal and genito-urinary tract involvements (1, 2). Genito-urinary involvement is particularly common in JEB with congenital pyloric atresia (JEB-PA; MIM 226730) associated with germline mutations...

We describe a 49-year-old Japanese woman with cutaneous squamous cell carcinoma (SCC) developing from recessive dystrophic epidermolysis bullosa (RDEB). Interestingly, immunohistochemical staining revealed dense infiltration of CD163(+) M2 macrophages and numerous Foxp3(+) regulatory T cells (Tregs) around the tumor. Since the contribution of immunosuppressive factors (e.g. TGFβ) to the carcino...

Autosomal recessive cutaneous disorders, including various types of epidermolysis bullosa (EB), usually manifest shortly after birth. The clinical course of these diseases is often characterized by severe complications, limited therapeutic options, and a poor prognosis. A study by Pasmooij et al. reported in this issue of the JCI unravels the molecular mechanisms by which germline mutations in ...