Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-year-old boy with recessive dystrophic epidermolysis bullosa developed a rapidly growing, large, acquired irregular melanocytic nevus on the lower aspect of the back. The lesion was clinically atypical and fulfilled the criteria for a malignant melanocytic proliferation. A complete surgical excision was performed. Histopathologic examination disclosed a compound melanocytic nevus without melanocytic atypia. Ultrastructural examination showed melanocytic cells located both at the roof and the floor of the blister. Several months later, three pigmentary lesions with a similar clinical appearance developed. Periodic clinical and dermoscopic examinations were recommended. Dermoscopic examination disclosed a globular pattern with brown globules and black dots distributed all over the lesions. The lesions also exhibited blue-greyish dots and multiple rounded white structures corresponding to milia-like cysts. No dermoscopic features suggestive of malignancy were noted. Acquired melanocytic nevi showing atypical clinical features have been reported to occur in areas of blistering in patients with epidermolysis bullosa. These nevi appear as large, asymmetrical pigmentary lesions with irregular borders. Initially, they are very dark in pigmentation, with color variegation and loss of pigment, and even becoming papillomatous over time. Histopathologic examination can show features of compound/junctional nevus as well as persistent/recurrent nevus. The concept of "epidermolysis bullosa nevus" has been proposed to define these peculiar lesions. The clinical, histopathologic and ultrastructural features of these nevi are reviewed. The usefulness of dermoscopic examination in the routine diagnosis and follow-up of these lesions are stressed.
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PMID:Large atypical melanocytic nevi in recessive dystrophic epidermolysis bullosa: clinicopathological, ultrastructural, and dermoscopic study. 1606 Aug 72

We report herein a 4-year-old girl with Dowling-Meara type epidermolysis bullosa (EB) who presented with peculiar pigmented nevi. Blister formation had repeatedly occurred on the erythematous plaques in a circinate fashion since birth, and marked hyperkeratosis was observed on the palms and soles associated with nail deformity. Her mother and maternal grandmother also had similar symptoms. In addition to the blistering lesions, the patient had three large, asymmetrical, pigmented plaques with color variegation. Light and electron microscopic findings of the blistering lesions showed a subepidermal blister with intracytoplasmic granules in keratinocytes as well as degeneration of basal cells and aggregation of tonofilaments. The pigmented lesions revealed histopathological features of compound nevus without malignant changes. Gene analysis revealed an E478K (Glu to Lys) mutation in exon 5 of the keratin 5 (K5) gene. These findings, together with clinical features, were consistent with those of Dowling-Meara type EB associated with so-called EB nevus.
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PMID:Epidermolysis bullosa nevus arising in a patient with Dowling-Meara type epidermolysis bullosa simplex with a novel K5 mutation. 1969 49

Epidermolysis bullosa (EB) nevi are large, eruptive, asymmetrical, often irregularly pigmented melanocytic lesions. Such nevi may give rise to small satellite nevi surrounding the primary nevus, and thus frequently manifest clinical features suggestive of melanoma. They usually arise in sites of previous bullae or erosions. At least twice a year all persisting wounds and EB nevi should be evaluated with a low threshold for histopathologic examination if warranted. Our practice is to punch biopsy EB nevi showing dermoscopic features of concern as well as dermoscopically featureless lesions. Given the skin fragility and potentially impaired wound healing in EB patients, we avoid prophylactic total excision of large EB nevi, but rather use the dermoscope to select appropriate sites for punch biopsies within giant EB nevi.
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PMID:Epidermolysis bullosa nevi. 1994 33

A 10-year-old female patient, being treated for dystrophic bullous epidermolysis in a Pediatric Hospital, was referred to our Dermoscopy Ambulatory because of a newly observed mole in the submandibular area. Clinically, the lesion presented as an irregular double-colored macule of about 2 cm in diameter, with irregular borders, suspicious of malignancy. Dermoscopy showed a multicomponent pattern, with multiple colors, ill-defined network, black blotches, streaks, multiple dots, a blue-whitish veil and granularity at the periphery. Although it had a clinical appearance of malignancy, dermoscopy every semester was proposed due to the revision of a recently described entity, named bullous epidermolysis nevi, that we made in these children. The fragile skin of this particular patient was also taken into account, and overtreatment was avoided. Bullous epidermolysis nevi is the term given to large, asymmetrical and often irregularly pigmented melanocytic nevi that occur in former areas of blistering in patients with the dystrophic forms of the disease. Despite its atypical clinical appearance, and sometimes also atypical dermoscopy, malignant transformation has not been reported yet. Similarly to recurrent nevi, where melanocytes proliferate in a previous area of trauma, clinical aspect, dermoscopy, and histopathology may tempt clinicians to diagnose benign moles as melanoma. Here we report one case of this entity, scarcely reported on in literature, and review clinical and dermatoscopical features of epidermolysis bullosa nevi confronting it with recurrent nevi. The usefulness of dermoscopy as a treatment strategy is stressed.
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PMID:Epidermolysis bullosa nevi: report of a case and review of the literature. 2222 Jan 43