Authors: Elisabeth Ryan, MD1, Roy Lawrence S. Paredes, MD1, Clarisse G. Mendoza, MD, FPDS2
Introduction: Epidermolysis Bullosa (EB) is a rare genodermatosis characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma. There are three subtypes: EB Simplex, Junctional EB, and Dystrophic EB. Each type of EB has its own specific genetic defect. We report a case of a 13-year-old girl who presented with multiple tense blisters and eroded plaques since birth on the entire body.
Case Summary: This is a 13-year-old-girl who presented with solitary tense blister on her right thigh three days after birth, which gradually affected the scalp, trunk, and upper and lower extremities, particularly on the trauma prone areas. There was nail dystrophy and multiple brownish dental pits at three years of age. A 4 mm lesional skin punch biopsy showed subepidermal blisters containing fibrin, lymphocytes and few red blood cells. PAS showed basement membrane zone beneath the blister, compatible with EB. Immunofluorescence mapping showed decreased immunofluorescence (+1) on keratin 5/6, (+2) on keratin 14, and absence of immunofluorescence on alpha 6 / beta 4 integrins. Final diagnosis is EB Simplex.
Conclusion: Early detection is important in managing this case, to detect systemic involvement and provide palliative care. Genetic counseling is recommended for prospective parents who have a family history of any form of epidermolysis bullosa. The prognosis of Inherited EB is very variable and the mortality is usually due to complications of systemic involvement. A multidisciplinary approach in the supportive management of this case is necessary as there is still no cure for this condition.
inherited epidermolysis bullosa, alpha 6 and beta 4 integrin, immunofluorescence mapping
Authors: Katrina Carmela M. Belen, MD, DPDS, Jasmin J.Jamora, MD, FPDS , Ma. Cecilia P. Ingente MD, DPDSAbstractBackground: Dermoscopy, a non-invasive diagnostic tool, has been proven to improve the diagnostic accuracy of vascular tumors since it can aid in...
A randomized, double-blind, comparative study on the safety and efficacy of virgin coconut (Cocos nucifera l.) oil against 1% hydrocortisone lotion as an anti-inflammatory and antipruritic preparation for mosquito reactions
Authors: Uy, Veronica S, MD; Gracia B. Teodosio, MD, FPDS; Ma. Teresita G. Gabriel, MD, FPDS; Mary Catherine T. Galang, MD; Mohammad Yoga A. Waskito, MD; Johannes F. Dayrit, MD, FPDS Abstract Background: Virgin coconut oil (VCO) has been reported...
Primary Cutaneous Anaplastic Large Cell Lymphoma (PC-ALCL) is a rare Non-Hodgkin lymphoma (NHL) representing approximately 9% of all cutaneous lymphomas.3 It usually manifests as a slow-growing, solitary tumor which has a tendency to regress spontaneously. However, metastasis is reported in 5-10% of cases.