Systemic mastocytosis is a rare disease involving the infiltration and accumulation of active mast cells within any organ system. By far, the most common organ affected is the skin. Cutaneous manifestations of mastocytosis, including Urticaria Pigmentosa (UP), cutaneous mastocytoma or telangiectasia macularis eruptive perstans (TMEP), may indicate a more serious and potentially life-threatening underlying disease. The presence of either UP or TMEP in a patient with anaphylactic symptoms should suggest the likelihood of systemic mastocytosis, with the caveat that systemic complications are more likely to occur in patients with UP. TMEP can usually be identified by the typical morphology, but a skin biopsy is confirmative. In patients with elevated tryptase levels or those with frequent systemic manifestations, a bone marrow biopsy is essential in order to demonstrate mast cell infiltration. Further genetic testing for mutations of c-kit gene or the FIP1L1 gene may help with disease classification and/or therapeutic approaches. Rarely, TMEP has been described with malignancy, radiation therapy, and myeloproliferative disorders. A few familial cases have also been described. In this review, we discuss the clinical features, diagnosis and management of patients with TMEP. We also discuss the possible molecular pathogenesis and the role of genetics in disease classification and treatment.
Bullosis diabeticorum, or diabetic bullae, is a non-inflammatory blistering condition that is virtually diagnostic of diabetes. Diabetic bullae most often present as painless, tense, superficial bullae that occur in an acral distribution and commonly heal in 2-6 weeks without scarring, but complications such as secondary bacterial infection or hemorrhage may occur. The diagnosis of bullosis diabeticorum in a nondiabetic patient should prompt screening for diabetes. A case of recurrent bullae in a prediabetic patient is presented, with a review of the clinical features and significance of bullosis diabeticorum.
Red scrotum syndrome is a poorly understood, chronic dysesthetic erythema primarily involving the anterior scrotum. Previous reports have indicated that red scrotum syndrome is occasionally responsive to oral doxycycline and oral gabapentin. Otherwise, few therapies have proven successful in treating the disorder. We report two cases of red scrotum syndrome responding to oral pregabalin, an anticonvulsant medication commonly used for neuropathic pain. These two cases suggest pregabalin as an effective means for treating red scrotum syndrome and endorse a neuropathic etiology.
Dercum's disease, also known as adiposis dolorosa, is a rare disease characterized by the accumulation of painful subcutaneous deposits of mature adult fatty tissue around the thighs, trunk, and upper arms and usually in a multifocal distribution. We are reporting an unusual presentation of Dercum's disease, presenting as a single painful, erythematous lesion around the left hip in a 71-year old postmenopausal woman. This report emphasizes the unusual presentation of adiposa dolorosa with a new modality for therapy. A summary of the major clinical associations, diagnostic challenges, and treatment modalities are also included in this manuscript.
Direct immunofluorescence (DIF) using frozen section material from a fresh/preserved perilesional biopsy is the gold standard for the immunopathologic diagnosis of bullous pemphigoid (BP). DIF in BP shows linear dermoepidermal junction (DEJ) staining for C3, with or without staining for IgG. In some situations, only a formalin-fixed lesional biopsy is obtained (with no fresh/preserved perilesional biopsy for DIF). In this setting, paraffin section C4d immunohistochemistry has proven to be diagnostically useful, demonstrating linear DEJ positivity for C4d. We present a novel use of C4d staining for the diagnosis of BP, specifically analyzing C4d perilesional frozen section DIF in a case where standard perilesional frozen section DIF for IgG/C3 was available, but was negative. An 80-year-old woman presented with a pruritic bullous lesion on her left upper extremity, clinically thought to represent BP. Lesional histologic findings were typical for BP, but perilesional frozen section DIF staining was negative for IgG and C3. A second set of biopsies processed at a different laboratory yielded the same result. A diagnosis of bullous scabies was considered. Subsequently, perilesional frozen section DIF for C4d was obtained, which showed strong linear DEJ positivity, confirming the diagnosis of BP. DIF for C4d is widely used in transplant pathology, since C4d is persistent in tissue, versus C3. Our case demonstrates that perilesional frozen section DIF staining for C4d may be positive and diagnostic in BP, even when conventional DIF staining for IgG and C3 is negative.
Erythromelalgia is a neurovascular disorder which causes pain, swelling, erythema, and warmth of the distal extremities. Primary disease is due to a genetic mutation in the SCN9A gene, but secondary erythromelalgia can be the consequence of a variety of underlying etiologies, including drug and toxin exposures. The disease is rare, occurring in only 1.3 out of every 100,000 in the United States, and symptoms can vary significantly in severity and presentation. Therefore, it can be difficult to recognize the disorder, identify the source, and promptly treat the condition. We report a reversible cause of erythromelalgia induced by the use of oral cyclosporine. This correlation is poorly documented in literature, with limited accounts identifying an association between erythromelalgia and cyclosporine. As drug-induced erythromelalgia represents a reversible cause of disease, physicians should obtain a detailed medication history during the diagnostic workup, specifically inquiring about the use of cyclosporine.
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