Dystrophic Epidermolysis Bullosa Inversa – Case Report and Review of the Literature

Dystrophic epidermolysis bullosa inversa is a very rare subtype of inherited dystrophic epidermolysis bullosa with a unique clinical manifes- tation. Generalized blistering in the neonatal period and in early infancy im- proves with age, with lesions becoming restricted to intertriginous areas, axial parts of the trunk, and mucous membranes. In contrast to other variants of dystrophic epidermolysis bullosa, the inverse type has a more favorable prog- nosis. We present a case of a 45-year-old female patient with dystrophic epi- dermolysis bullosa inversa, diagnosed in adulthood based on typical clinical presentation, transmission electron microscopic findings, and genetic analy- sis. Additionally, genetic analysis revealed that the patient also suffered from Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy. To our knowledge, the coexistence of these two genetic diseases has not been reported so far. We describe clinical and genetic findings in the patient and re- view previous reports on dystrophic epidermolysis bullosa inversa. A possible temperature-related pathophysiology for the peculiar clinical manifestation is discussed

Dystrophic Epidermolysis Bullosa Inversa – Case Report and Review of the Literature

Dystrophic epidermolysis bullosa inversa is a very rare subtype of inherited dystrophic epidermolysis bullosa with a unique clinical manifes- tation. Generalized blistering in the neonatal period and in early infancy im- proves with age, with lesions becoming restricted to intertriginous areas, axial parts of the trunk, and mucous membranes. In contrast to other variants of dystrophic epidermolysis bullosa, the inverse type has a more favorable prog- nosis. We present a case of a 45-year-old female patient with dystrophic epi- dermolysis bullosa inversa, diagnosed in adulthood based on typical clinical presentation, transmission electron microscopic findings, and genetic analy- sis. Additionally, genetic analysis revealed that the patient also suffered from Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy. To our knowledge, the coexistence of these two genetic diseases has not been reported so far. We describe clinical and genetic findings in the patient and re- view previous reports on dystrophic epidermolysis bullosa inversa. A possible temperature-related pathophysiology for the peculiar clinical manifestation is discussed

A case of residual melanoma of the finger

Cilj: Cilj je ovog rada prikazati dijagnostički postupak rezidualnog melanoma prsta ruke. Prikaz slučaja: U laboratorij Zavoda za patologiju iz kirurške ambulante primljen je isječak kože četrdesetčetverogodišnjeg muškarca pod dijagnozom tumora četvrtog prsta desne ruke u vidu kupolastog odignuća površine kože najvećeg promjera od 1 centimetra. Lezija je bila boje kože i u cijelosti je preuzeta za patohistološku analizu koja je pokazala da diferencijalno dijagnostički u obzir dolazi melanocitna lezija. S obzirom na izostanak epidermalne komponente lezije bila je potrebna dodatna molekularna analiza za isključivanje svjetlostaničnog sarkoma. Iz naknadno primljenih kliničkih podataka zaključuje se da se zapravo radi o rezidui melanoma koji je prethodno odstranjen bez popratne patohistološke analize. Zaključak: Patohistološka dijagnoza može, općenito, pa tako i u slučaju melanoma, biti otežana zbog nedostatka kliničkih podataka. Suvremena patohistološka dijagnostika ima dobre pomoćne alate za postavljanje točne dijagnoze koja rukovodi daljnji dijagnostički i terapijski protokol pacijenta. No, klinički dermatološki pregled suspektne pigmentne lezije upotpunjen patohistološkom dijagnostikom nezaobilazan je korak, nužan za pravovremeno postavljanje dijagnoze, čime se izbjegava odgađanje početka terapije važne za ishod pacijenta.Objective: The objective of this paper is to present a diagnostic procedure in a case of residual melanoma of the finger. Case report: We received a dome shaped, skin specimen from a forty-four year old man. The skin sample was taken from the fourth finger of his right hand and it was 1 cm in diameter. The skin coloured lesion was serially sectioned and submitted for histopathologic analysis. Microscopic examination showed that it was melanocytic lesion and considering it had no epidermal component, additional molecular analyses were needed to exclude a clear cell sarcoma. A diagnosis of residual melanoma was made, from subsequently received clinical data, however there was no accompanying histopathological analysis from the first excision. Conclusion: A histopathological diagnosis, in general, as well as in the case of melanoma may be difficult due to the lack of clinical data. Contemporary histopathological diagnostics has a good support tools for establishing an accurate diagnosis, which governs the further diagnostic and therapeutic patient’s protocol. However, clinical dermatological examination of doubtful pigmented lesions, complemented by histopathologic diagnostics is a crucial step important for timely diagnosis in order to avoid delay in the therapy which is important for patient’s disease outcome. Key words: clear cell sarcoma; differential diagnosis; fluorescence in situ hybridization; immunohistochemistry; melanom

Histological Skin Remodeling Following Autologous Fibroblast Application

ABSTRACT The aim of this study was to quantify the effectiveness of intradermal application of autologous fibroblasts on lean tissue structures. The histological sections of the skin were analysed and evaluated for the expansion potential of autologous fibroblasts in the control skin patch area and the nearby pre-treated skin patch into which we had injected expanded autologous fibroblasts nine month earlier. The results show that the pre-injection of fibroblasts into the dermis leads to a long-term rejuvenation of the skin, as evaluated from the histological appearance and from the significantly increased density of fibroblasts in the pre-injected skin vs. controls, from around 60% to over 80%, determined as the percent of lean tissue by a novel image analysis approach. Interestingly, the rate of the in vitro fibroblast expansion from the pre-injected area of the skin was reduced in comparison with the controls, consistent with the view that fibroblasts exhibit a limited cell-division potential and that fibroblasts from the pre-injected skin already experienced expansion nine month earlier prior to the injection into the skin. We conclude that autologous fibroblast application results in a significant long-term augmentation of the lean tissue elements of the skin

ESP, EORTC, and EURACAN Expert Opinion:practical recommendations for the pathological diagnosis and clinical management of intermediate melanocytic tumors and rare related melanoma variants

The recent WHO classification of skin tumors has underscored the importance of acknowledging intermediate grade melanocytic proliferations. A multistep acquisition of oncogenic events drives the progressive transformation of nevi into melanomas. The various pathways described are modulated by the initial oncogenic drivers that define the common, blue, and Spitz nevi groups. Intermediate lesions are most often the result of a clonal evolution within such nevi. Based on this established classification, we have suggested for each pathway a practical diagnostic approach, benefiting from the recently developed molecular tools, both in the setting of general pathology labs and expert centers. Moreover, recommendations regarding the re-excision and clinical follow-up are given to support decision-making in multidisciplinary tumor boards