No abstract available.
Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa*

No abstract available.
Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa*

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

Dystrophic epidermolysis bullosa (DEB) is characterized by blisters that heal with scarring and milia formation, including nail dystrophy, with an incidence of 2.1 per million live births. DEB is derived from defects of the anchoring fibril which results in sublamina densa separation.

We report a one-month old female who presented with vesicles and erosions on bilateral feet at birth. New vesicles and bullae were noted on other areas of the body such as the scalp, ears, anterior trunk, gluteal area, and extremities which spontaneously ruptured leading to erosions and crusts. Nails were thick and yellowish black. Consult was done at a clinic and was given unrecalled antibiotic, antihistamine, and cream for one week. There was no noted improvement hence she was brought to another clinic, diagnosed as staphylococcal scalded skin syndrome, advised admission and subsequently referred to dermatology service. After clinical assessment, findings of cell poor subepidermal blister on histology, linear C3 on DIF, and positive collagen 7 on ELISA, patient was managed as a case of dystrophic epidermolysis bullosa.

Epidermolysis bullosa is an inherited genetic disease with mutation in COL7A1 gene manifesting as vesicles and bullae on trauma prone areas. The diagnosis is based on clinical, histopathology, immunofluorescence, antigen studies, and electron microscopy. Uniquely, immunofluorescence revealed strong linear deposition of C3 at the basement membrane zone which is more suggestive of bullous pemphigoid than epidermolysis bullosa. This case highlights the importance of early diagnosis and proper management of the disease to limit unnecessary intervention.

Dominant dystrophic epidermolysis bullosa-pretibial (DDEB-Pt) is an extremely rare subtype of dominant dystrophic epidermolysis bullosa (DDEB). Clinically, DDEB-Pt is characterized by trauma-induced blistering with scarring that predominantly affects the pretibial region and causes nail dystrophy. A 42-year-old woman had recurrent numerous pruritic lichenoid papules and plaques and a few vesicles on both the pretibial areas with toenail dystrophy for over 30 years. Her son and daughter also had the same lesions on their pretibial areas with associated dystrophic toe nails. Herein we report on a case of DDEB-Pt occurring in one family as a rare case.
Adult ; Blister ; Cicatrix ; Epidermolysis Bullosa ; Epidermolysis Bullosa Dystrophica ; Female ; Humans ; Nails ; Nuclear Family ; Toes

Dystrophic epidermolysis bullosa is a rare, chronic non-inflammatory bullous disease with a hereditary pattern of occurrence, and this disease easily produces bullae that heal with scarring and milium formation. A 13-month-old female baby was brought to the department of dermatology with multiple variable sized bullae and erythematous to dark brownish patches and crusts on both her feet. The histopathologic findings showed subepidermal non-inflammatory blisters and the electron microscopic findings showed vacuolization of the sublamina densa and broken anchoring fibrils. On the basis of the clinical and microscopic findings, she was diagnosed as having dominant dystrophic epidermolysis bullosa. We report here on a case of dominant dystrophic epidermolysis bullosa with the clinical, histological and electron microscopic findings, as well as the family history of the patient.
Blister ; Cicatrix ; Dermatology ; Electrons ; Epidermolysis Bullosa Dystrophica ; Epidermolysis Bullosa Simplex ; Female ; Foot ; Humans ; Infant

Epidermolysis bullosa dystrophica(EBD) is a rare, hereditary and chronic mechanobullous disease characterized by blistering and erosions of the skin in response to even minor trauma. A 5-year old girl visited with a complaint of continuous vesicobullous skin eruptions since birth. On examination, bullae, vesicles, atrophic scars, crusts and ero:ions were scattered on whole body. Loss of finger and toe nails, partial syndactyly of all toe webs and milia on dorsa of feet were noticed. We present a case of EBD that seems to be a recessive type considering the absence of family history with histopathologic and electron microscopic findings.
Blister ; Child, Preschool ; Cicatrix ; Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa* ; Female ; Fingers ; Foot ; Humans ; Parturition ; Skin ; Syndactyly ; Toes

A case of Epidermolysis Bullosa Dystrophica is reported with review of pathogenesis with literatures. Epidermolysis Bulloaa Dystrophica is a rare genetic disease which is characterized by the formation of blister upon the minor trauma or friction to the skin. A 7-year old boy was referred to our dept. in Aug. 1976 because of a severe bullous eruption primarily on his hands and feet. On admission tense bullae were noted on the dorsa of hands and feet which is usually serous but may be hermorhagic tendency. Soon thereafter tbis bullous lesion tend to break down into painful shallow denudation which may leave depigmented scars and milia after healing. Family history was negative for skin disorders.
Blister ; Child ; Cicatrix ; Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa* ; Foot ; Friction ; Hand ; Humans ; Male ; Skin ; Transcutaneous Electric Nerve Stimulation

Epidermolysis bullosa dystrophica is rare, chronic non-inflammatory disease of hereditary trait, which easily ptoduces bullae spontaneously or by heat and minor trauma such as pressure or friction. We present two cases of epidermolysis bullosa dystrophica that seems to be a dominant type considering the presence of family history with histopathologic and electron microscopic findings. Successful anesthetic management of two patients with epidermolysis bullosa dystrophica was accomplished with general anesthesia.. The special concerns which relate to airway management in this disease are discussed. Early diagnosis and institution of preventive measures can minimize the need for restorative and surgical management in these children. However, when anesthetic management is necessary, the use of appropriate consultants and adjuncts can provide valuable support.
Airway Management ; Anesthesia, General ; Child ; Consultants ; Early Diagnosis ; Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa* ; Friction ; Hot Temperature ; Humans ; Skin

Epidermolysis bullosa dystrophica is a rare skin disease characterized by milia, nail dystrophy, andblistering of the skin and mucous membranes in response to minimal trauma. A forty years old man had typical skinlesions on the extremities, and the presence of distal phalangeal wedge deformity with soft tissue webbing wasnoted. multiple segmental strictures and ulceration involved the cervical and distal esophagus. Esophageal balloondilatation was therefore performed and dysphagia was relieved. The authors describe a case involving multipleesophageal strictures and musculoskeletal lesion, with clinically and radiologically documented epidermolysisbullosa dystrophica.
Congenital Abnormalities ; Constriction, Pathologic* ; Deglutition Disorders ; Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa* ; Esophagus ; Extremities ; Mucous Membrane ; Skin ; Skin Diseases ; Ulcer