Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia was carried out in a couple at risk. Their two previous children had died during the first months of life of the same disorder despite surgery for the pyloric abnormality. Ultrastructural study of fetal skin biopsies obtained at 18 weeks' gestation showed dermal-epidermal separation at the lamina lucida level...

As endoscopic sinus surgery has been used widely in sinus pathologies and advancements in computerized tomography technologies, the importance of the lateral nasal wall anatomy and its variations has been emphasized more commonly. In evaluation of endoscopic and radiological anatomy of paranasal sinuses attention must be paid to these variations. Concha bullosa which is an anatomical variation ...

The purpose of this study is to compare scanning electron microscopy findings of the blister roof in three distinct bullous diseases: one intraepidermal acantholytic (pemphigus foliaceus); one due to hemidesmosomal dysfunction (bullous pemphigoid); and one secondary to anchoring fibril dysfunction - type VII collagen (dystrophic epidermolysis bullosa). In pemphigus foliaceus, acantholytic pheno...

We describe a case of bilateral massive conchae bullosa in a 76-year-old woman. She presented with a 2-year history of nasal obstruction and frontal headache. In light of these and other findings on anterior rhinoscopic and endoscopic examinations, we initially suspected nasal tumors. However, after a prebiopsy evaluation by computed tomography, we diagnosed bilateral massive conchae bullosa th...

Epidermolysis bullosa is a genetically transmitted skin disorder that typically manifests with trauma-induced skin blistering, scarring and in some cases mucosal involvement. Esophageal webs, strictures or stenosis can be found in about a third of the patients with the recessive dystrophic type of this disease. We report a six-year-old girl with recessive dystrophic epidermolysis bullosa and pr...

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...

Concha bullosa is the pneumatization of the concha and is one of the most common variations of the sinonasal anatomy. The histopathological changes caused by the infections which arise from the impaired aeration of conchal cavity are frequently found. Fungus ball of the nasal cavity is an extremely rare, fungal infection with only three cases reported previously. In this paper, we present the f...

OBJECTIVE To study the benefit of surgery in different types of isolated concha bullosa. DESIGN Prospective case series. SETTING Academic Medical Center. PATIENTS Forty seven symptomatic patients complaining of nasal congestion and block, headache and facial pain having concha bullosa without any other sinonasal finding. Their conchae bullosa were classified as lamellar, bulbous and exten...

Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy. A dominant mutation in the gene was found to cause epidermolysis bullosa simplex Ogna without muscular dystrophy. Here we report the DNA sequencing of the plectin gene (PLEC1) in a Dutc...

Epidermolysis bullosa is a group of inherited rare skin disease, characterized by bullae formation in the skin or mucous membranes. The fundamental abnormality is collagen degeneration leads to splitting of various epidermal layers. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. These patients often admitted to the hospital for corrective surgeries, c...