Search

Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare, benign, congenital tumor of the dermis and subcutaneous tissue comprised of skeletal muscle and adipose and adnexal elements. Although the majority of cases are an incidental finding in otherwise healthy patients, some have been reported in association with other anomalies. We present a full-term boy evaluated on day 2 of life for two lesions located on the midline of the lower back and right buttock that each appeared clinically as an atrophic, pink plaque. Ultrasound of the midline lesion revealed an underlying lipomyelomeningocele with a tethered cord in the spinal canal. Histopathology of the right buttock cutaneous lesion was consistent with a diagnosis of RMH. Surgical excision was performed on the midline intradural lipoma and the lesion on the buttock was monitored clinically. Repeat biopsy of this site at 1 year of age revealed complete spontaneous regression. This case highlights three interesting features: the association with an occult spinal dysraphism lipomyelomeningocele and tethered cord, the clinical presentation of an atrophic plaque as opposed to the more commonly reported raised lesions, and the phenomenon of spontaneous regression of the lesion. Most importantly, this final feature of regression in our patient suggests that, in the absence of symptoms, clinical observation of RMH lesions is warranted for spontaneous regression for 1 to 2 years provided that no functional deficit is noted and that the cutaneous or deeper lesions are not causing a medical problem., (© 2014 Wiley Periodicals, Inc.)

Histopathologic examination is the gold standard for the diagnosis of melanocytic lesions, including melanoma, and guides management options and disease prognosis based on the depth of invasion. Although most melanomas can be readily distinguished from benign nevi, some pigmented lesions are more ambiguous and can be challenging to interpret as truly benign or truly malignant. Unfortunately, misclassification can render severe consequences for the patient, making it imperative to explore further analysis to determine the true nature of an ambiguous lesion. A relatively new technique known as fluorescence in situ hybridization (FISH) has become prevalent in dermatopathology for distinguishing between benign and malignant pigmented lesions; however, there are few reports on the application of FISH results in the clinical setting. We present 3 cases in which a FISH assay was utilized to assist in the diagnosis and management of ambiguous pigmented lesions. We also provide a review of the most recent literature regarding this diagnostic modality.

Generalized pustular psoriasis of Zambusch is a unique and challenging skin condition to successfully manage. Patients often encounter potentially high recurrence rates of pustular eruptions despite multidrug treatment regimens with high morbidity as a consequence. We report a case of generalized pustular psoriasis of Zambusch in a patient whose disease initially flared following early treatment with the anti-tumor necrosis factor alpha (anti-TNF-alpha) inhibitor etanercept but was later successfully managed with cyclosporine and reintroduction of etanercept. We also discuss therapeutic management options for generalized pustular psoriasis.

Antiphospholipid antibody syndrome (APS) results from autoantibodies to cell surface phospholipids or phospholipid-binding proteins resulting in clotting anomalies and can have devastating sequelae, including stroke, deep venous thrombosis, pulmonary embolism, and recurrent spontaneous abortions. However, cutaneous manifestations are the first sign of APS in up to 41% of patients. We present a case report of APS that developed several days after taking trimethoprim/sulfamethoxazole. The clinical and pathological features of this unique presentation, differential diagnoses, and treatments are discussed.

Eccrine nevus is a rare benign solitary lesion with increased size and number of eccrine coils, ductal wall thickening, and luminal dilation, in the absence of collagen or fibroblast overgrowth. We present a 3-month-old male with a mid-line nuchal scalp lesion shaped like Mickey Mouse's head since birth that yielded a biopsy proven diagnosis of an eccrine nevus.

A 61-year-old-man presented with a sudden onset of multiple, hyperpigmented papules with a central punctum on the face, chest, upper back, and arms. Histopathologic examination showed infundibular cysts. These findings are consistent with a diagnosis of multiple eruptive milia, which is a rare disorder that is characterized by the sudden development of crops of milia over weeks to months. They are more extensive in number and distribution than they are in primary milia. Milia may present spontaneously without a known cause, as part of an inherited familial condition, or as part of a genodermatosis. The etiologies are uncertain, and treatment options are varied.

We describe a case of non-scarring, generalized, cutaneous and mucosal subepidermal bullous dermatosis that is characterized histopathologically by a neutrophilic infiltrate and strong linear staining with both IgA and IgG along the basement-membrane zone. Autoantibodies to collagen VII of both the IgA and IgG4 subtypes were detected by indirect immunofluorescence test, which led led to a diagnosis of epidermolysis bullosa aquisita (EBA). EBA is a subepidermal bullous disorder that is mediated by autoantibodies, which are directed against type VII collagen. The distinct clinical presentations of EBA are reviewed and discussed in the context of the unique autoantibody profile of this case.

A 78-year-old man presented with an eight-month history of folliculocentric, pink, hyperkeratotic papules and plaques with thick white scale that involved the entire body, with confluence on the buttocks and genitalia. A biopsy specimen demonstrated superficial and focal, mild perivascular and perifollicular, band-like lymphocytic infiltrate and eosinophils. There were lymphocytes extending to the dermo-epidermal junction with vacuolar changes. A diagnosis of lichenoid drug eruption secondary to a proton-pump inhibitor was made. To the best of our knowledge, only one other case of lichenoid drug eruption secondary to a proton-pump inhibitor has been reported.

Pseudoxanthoma elasticum is an incurable, autosomal-recessive, genetic disorder that is caused by mutations in the ABCC6 gene. It is characterized by progressive mineralization and fragmentation of the elastic fibers in the skin, retina, and blood vessels. The characteristic cutaneous features bring the patient to medical attention, but morbidity is related to the degree of extracutaneous involvement. The disease is progressive with phenotypic variability and no definite genotype-phenotype correlation. Treatment is supportive and is directed at prevention and early detection of adverse ocular and cardiovascular sequelae. We present two siblings with pseudoxanthoma elasticum, who have considerable differences in disease related morbidity, which highlights intra-familiar phenotypic heterogeneity.

A 35-year-old man with severe eczematous dermatitis and recurrent staphylococcal skin infections, some of which required hospitalization, is presented. Other medical concerns include recurrent oral staphylococcal infections, otitis media, ocular herpes simplex virus keratitis, asthma, steroid-induced gastritis, steroid-induced cataracts, recurrent upper respiratory infections, and acute pharyngitis. Past medical history includes retained dentition of six primary teeth, two episodes of childhood pneumonia that required hospitalization, and three wrist and ankle fractures. Laboratory data showed an eosinophil count of 2,400 cells/ml; the highest IgE level was 17,028 IU/mL. Considering the clinical and laboratory findings, the diagnosis of hyperimmunoglobulin E syndrome was made. DNA sequencing showed a novel signal transducer and activator of transcription 3 (STAT3) gene mutation within intron 12, specifically adenine to cytosine, two base pairs upstream of exon 13.

A 52-year-old woman presented with an occasionally pruritic, hyperpigmented and hypertrichotic, indurated plaque on the left upper arm that initially developed during childhood. Histopathologic examination showed changes that were consistent with a smooth-muscle hamartoma. Cutaneous smooth-muscle hamartomas are uncommon benign neoplasms. Most lesions are congenital, but there have been a few reports of acquired lesions. These lesions have been described as part of a spectrum of neoplasms that include Becker nevi since they share many clinical and histopathologic features.

A 79-year-old woman presented with a four-year history of generalized, erythematous, indurated plaques on the malar areas, back, and extremities. The lesions had been recalcitrant in the past to topical glucocorticoid therapy. A skin biopsy specimen was diagnostic of discoid lupus erythematosus (DLE). A minority of patients with DLE progress to develop systemic lupus erythematosus although generalized DLE is more frequently associated with systemic involvement than is limited disease. Standard therapy of cutaneous lupus includes broad spectrum sunscreens, topical and intralesional glucocorticoids, and antimalarial agents.

We report the successful treatment of a 2.8 kg female infant born with a giant epignathus, and we present our current prenatal and neonatal recommendations for managing this problem. We recommend that the delivery be done by cesarean section, that an adjacent operating room be ready for the baby, and that a neonatologist, anesthesiologist, and pediatric surgeon be standing by. The term epignathus now commonly applies to a teratoma protruding from a newborn's mouth. The survival of these otherwise normal children has been very low. We discuss the perinatal, neonatal, and operative care necessary to improve survival, as evidenced by the case presented.

Studies were conducted at the cellular level in an attempt to describe the processes involved in zinc absorption from the intestine. A low-molecular-weight zinc-binding ligand was identified in the pancreas of rats and pancreatic secretions from a dog. The whole-body absorption of 65Zn in rats in which the common bile duct was ligated was significantly less than the absorption of 65Zn in rats in which the hepatic bile duct was ligated. The uptake of 65Zn by epithelial cells from everted intestinal segments was markedly increased in the presence of the zinc-binding ligand fraction from pancreatic secretions. Following in vivo labeling, 30% of the 65Zn in the epithelial cell was associated with the partially purified basolateral plasma membrane. When labeled basolateral plasma membranes were incubated in a medium that contained zinc-free albumin, approximately 96% of the 65Zn was transferred to the medium while less than 30% of the isotope was released to media that contained either no albumin or a 3:1 zinc: albumin complex. In rats fed a zinc-deficient diet, 65Zn absorption was inversely proportional to the serum zinc concentration, and both zinc and copper injections produced a marked decrease in 65Zn absorption. These results suggest that zinc absorption consists of interactions among a low-molecular-weight ligand, recpetor sites on the basolateral membrane, and metal-free albumin.

The case described herein represents the first laboratory-confirmed case indicating intrauterine infection due to echovirus type II. The virus was recovered from the vagina of the mother and from the blood from the umbilical cord and nasopharynx of an apathetic newborn (all cultures were taken within 60 minutes of birth in the delivery room) with a generalized maculopapular exanthem. When the infant was 15 days of age, results of all laboratory tests and physical examinations were normal.

Following mastectomy for node-positive breast cancer, 261 postmenopausal women were randomized to observation or adjuvant treatment with cyclophosphamide, fluorouracil, prednisone (CFP) alone or combined with tamoxifen (T). Doses used were: C, 150 mg/m2 intravenously (IV) days 1 to 5; F, 300 mg/m2 IV days 1 to 5; P, 10 mg by mouth 3 times daily on days 1 to 7; and T, 10 mg by mouth 2 times daily. A total of ten courses of treatment, administered every 6 weeks, was planned and T was stopped 6 weeks after the last course of CFP. Two hundred thirty-four patients were fully eligible and evaluable. With a median observation time slightly in excess of 5 years, the proportion of recurrences on each arm were: CFP, 29 of 75 (39%); CFPT, 29 of 71 (41%); and observation, 50 of 88 (57%). Relapse-free survival distributions for both CFP and CFPT were superior to observation (both two-sided P = .01). Considering prognostic factors in covariate analysis revealed two-sided P = .0006 for CFP v observation and P = .0003 for CFPT v observation. No substantial difference was identified between CFP and CFPT. Survival data are not yet mature with 31% dead; and, although slight separations of the curves exist in favor of the treatment arms, no significant differences in survival have been seen. Both adjuvant therapy programs are well tolerated and there were no treatment-related deaths. Further maturation of the data is required to determine if the advantages in relapse-free survival will be translated into any overall survival benefit which must be considered the goal of primary interest.

A patient had a true aneurysm of the left iliac artery, first noted at 6 months of age. The aorta was normal and no septic course could be documented. Furthermore, the umbilical artery catheter tip did not lie in the vicinity of the aneurysm. To our knowledge, this is a heretofore unreported event.

Candida albicans peritonitis developed in a 48-year-old man with a perforated gastric ulcer who subsequently was treated with intravenous amphotericin B. The drug penetrated well into the inflamed peritoneal cavity and eradicated the organism from the peritoneal fluid. Nevertheless, at post-mortem, Candida organisms were demonstrated in a gall-bladder empyema and within the gall-bladder wall. Because intra-abdominal organs may be involved in Candida peritonitis, the use of high dose amphotericin B administered either intravenously, intraperitoneally, or both intravenously and intraperitoneally is recommended.

A randomized trial was performed to determine relative efficacy and toxicity of two first-line combination chemotherapy regimens in women with metastatic breast cancer: CFP (cyclophosphamide, 5-fluorouracil, prednisone) and CMFP (cyclophosphamide, 5-fluorouracil, methotrexate, prednisone). Both regimens have reported efficacy in this setting but differ in dosages and scheduling of the agents they have in common. Three hundred thirty-six women with no prior chemotherapy for metastatic disease were eligible and evaluable, and 309 had either measurable or evaluable disease and were assessable for objective response. Responses were seen in 65 of 153 (42%) on CFP and 83 of 156 (53%) on CMFP (two-sided P = 0.06). Median durations of response were 7.1 months for CFP and 8.5 months for CMFP (log-rank, two-sided P = 0.67). Considering all 336 patients, the median times to disease progression were 4.7 months for CFP and 6.2 months for CMFP (log-rank P = 0.31) and median survivals were 15.2 and 14.9 months, respectively (log-rank P = 0.88). Covariate analysis did not alter these findings. Median leukocyte nadirs were 1800 for CFP and 1500 for CMFP, with 22% and 21%, respectively, having nadirs less than 1000/microliters. Emesis was more frequent on CFP (49%) than on CMFP (26%) but was severe in only 7% and 5%, respectively. It is concluded that despite a higher response rate on CMFP and some differences in toxicities including a higher reported incidence of emesis on CFP, there was no substantial difference in efficacy or tolerability between the two regimens.