Biopsy-proven spontaneous regression of a rhabdomyomatous mesenchymal hamartoma.

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.

Clinical application and limitations of the fluorescence in situ hybridization (FISH) assay in the diagnosis and management of melanocytic lesions: a report of 3 cases.

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.

Antiphospholipid antibody syndrome secondary to trimethoprim/sulfamethoxazole.

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.

Generalized pustular psoriasis of Zambusch: case report of successful disease control with cyclosporine and etanercept.

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.

Midline eccrine nevus.

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.

Drug-associated reversible granulomatous T cell dyscrasia: a distinct subset of the interstitial granulomatous drug reaction.

BACKGROUND: A cutaneous T-cell infiltrate exhibiting cytologic and architectural atypia, an aberrant phenotypic profile and clonal restriction would fall under the rubric of a T-cell dyscrasia. Although such an infiltrate could represent a lymphoma, this constellation of findings can also be seen in drug-associated pseudolymphoma. METHODS: In 2001, two of the authors (CMM and AEC) proposed the term reversible T-cell dyscrasia to describe atypical T-lymphocytic infiltrates that manifest a light microscopic, phenotypic and molecular profile that closely parallels cutaneous T-cell lymphoma but regress when the causal drug is withdrawn. RESULTS: Herein we report our 10 cases of drug-associated pseudolymphoma resembling granulomatous mycosis fungoides. CONCLUSIONS: We term this reaction pattern drug-associated reversible granulomatous T-cell dyscrasia and consider it a distinct subset of the interstitial granulomatous drug reaction.

Early-onset lichenoid graft-vs.-host disease: a unique variant of acute graft-vs.-host disease occurring in peripheral blood stem cell transplant recipients.

BACKGROUND: A complication of stem cell transplantation is chronic graft-vs.-host disease (GvHD), developing months to years after transplant; the two commonest manifestations are lichenoid GvHD and scleroderma. The purpose of this study was to characterize early-onset lichenoid GvHD. METHODS: A retrospective study identified patients diagnosed with early-onset lichenoid GvHD. This diagnosis was correlated with type of transplant and concurrent or prior episodes of acute GvHD. RESULTS: Patients in whom a sex mismatch was present between donor and recipient were included, representing a study population of 17. All received an allogeneic peripheral blood stem cell transplant (PBSCT). All patients had biopsy proven lichenoid GvHD within 60 days or less following transplantation. All had concurrent gastrointestinal symptoms which was biopsy proven GvHD in thirteen of the cases. FISH XY studies revealed that the infiltrating lymphocytes were of donor origin in 12 of the cases, mixed in three and of host origin in two cases. CONCLUSIONS: Early-onset lichenoid GvHD is exclusive to the PBSCT setting and appears to be mediated by donor lymphocytes, reflecting the higher numbers of donor T cells encountered in PBSCT. We consider this reaction pattern a distinctive subtype of acute GvHD.

Acquired smooth-muscle hamartoma.

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.

Lichenoid drug eruption.

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.

Hyperimmunoglobulin E syndrome with a novel STAT3 mutation.

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.

Pseudoxanthoma elasticum.

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.

Generalized discoid lupus erythematosus.

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.

Mixed immunobullous disorder most consistent with the IgA-form of epidermolysis bullosa acquisita.

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.

Multiple eruptive milia.

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.

Neurovascular hamartoma.

A 29-year-old man presented with a large, asymptomatic, brown, hyperpigmented, depressed plaque over his left upper back, which included the scapular area, since childhood. Histopathological analyses of the biopsy specimens was consistent with a rare entity known as neurovascular hamartoma. This uncommon lesion has been reported in two publications, either as a possible marker of the malignant rhabdoid tumor or as a hamartomatous tongue lesion in children. Due to its possible association with the aggressive and often fatal rhabdoid tumor, periodic examination of this lesion may be warranted.