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We strive to educate medical providers of the possibility of cellular transformation occurring as a parastomal complication and to emphasize the importance of close monitoring, as there is a risk, although low, of subsequent malignant transformation.

Neutrophilic figurate erythema of infancy (NFEI) is a rare variant of annular erythema of infancy. It is characterized by annular erythematous plaques, occasionally with a polycyclic configuration. The main challenge is to differentiate this rare entity from other figurate erythemas associated with serious diseases such as neonatal lupus erythematosus. We present the case of a 9-month-old female admitted with a skin rash of unclear etiology. The rash started on her face at the age of 3 months and gradually spread to her extremities. She had no constitutional symptoms, and her health and development were otherwise unremarkable since birth. This persistent skin eruption consisted of many ill-defined erythematous papules and annular plaques. Histologic examination revealed perivascular neutrophils and eosinophils with abundant nuclear dust without signs of vasculitis. NFEI is a diagnostic enigma both clinically and histologically. Absence of an underlying cause, dermal neutrophilic infiltrate with leukocytoclasis, and lack of vascular damage are the keys to diagnosis.

Cutaneous leiomyomata, which are benign smooth muscle neoplasms, commonly present as dermal-based nodules or papules with smooth borders and firm consistency. Digital, particularly subungual leiomyomata are quite rare. A 16-year-old female presented to nail clinic complaining of discoloration of the lunula of the left thumbnail for 2.5 months. On initial examination, a pink longitudinal band was present in the center of the nail plate, with yellow discoloration and distal onycholysis. The patient had only mild tenderness with firm palpation, and did not recall trauma of the area. A nail matrix biopsy was performed to determine the etiology of the lesion. Microscopic examination demonstrated a well-demarcated dermal-based spindle-cell fascicular proliferation. Bland cells exhibited eosinophilic cytoplasm and elongate nuclei with blunt ends and minimal cytologic atypia. Prominent nucleoli, mitoses or necrosis were not appreciated. Immunohistochemical stains for smooth muscle actin and caldesmon highlighted the cells. Contrarily, S-100, epithelial membrane antigen, p63, factor XIIIa, CD34, CD68 and p75 were all negative. Ki-67 showed a low proliferative index. The immunoprofile combined with the morphologic features were interpreted as subungual leiomyoma. Subungual leiomyoma is a very rare diagnosis. We seek to bring awareness and expedite the diagnosis in patients with this lesion.

Dermal melanophages are frequently encountered in both benign melanocytic nevi and malignant melanoma. In contrast, intraepidermal melanophages (IEM) are under-recognized in melanocytic lesions and their biologic significance is not understood. Herein, we report the clinical and histopathologic features of five melanocytic lesions featuring IEM encountered prospectively in our dermatopathology practice at the University of Chicago. Two hundred and thirty-one (231) archived skin primary melanocytic proliferations were also investigated retrospectively in a de-identified, archival teaching set collection. Nineteen of 231 of the archived cases were positive for IEM. Among the total 24 IEM-positive cases (5 prospective and 19 archived cases), 13 were categorized as Spitz nevi (p

Background Diseases of the foreskin may manifest with an array of pathologic findings, including potentially under-recognized dermatologic conditions. Herein, we summarize an institutional experience in foreskin dermatopathology. Methods Diagnoses rendered on foreskin specimens between 1982 and April 2009 were obtained through a computer-based keyword search. Cases given normal, non-specific or descriptive diagnoses were reviewed by a dermatopathologist. Results Keyword search yielded 414 foreskin diagnoses. Interpretations included normal foreskin (n = 131), benign lesions (n = 262) and malignant/dysplastic entities (n = 21). Of 353 cases given normal, descriptive or non-specific diagnoses, 334 were reviewed. Of reviewed cases, 209 (63%) were given more specific diagnoses [e.g. spongiotic dermatitis (n = 115), lichen sclerosus et atrophicus (LSA; n = 41), interface/lichenoid dermatitis (n = 26), psoriasiform dermatitis (n = 7)]. Discrepancy between the clinical and pathologic impression was frequently noted (n = 77). Conclusions This study shows benign inflammatory lesions represent the most frequent foreskin pathology. When possible, specific diagnoses should be rendered, as accurate classification may be of clinical importance. There is an abundance of recent literature on the role of circumcision in disease prevention, and this topic is explored. We discuss the theoretical possibility that foreskin inflammation compromises the mucosal/epithelial barrier, thus playing a role in disease transmission.

DiGeorge syndrome is a congenital anomaly with a constellation of findings that includes thymic hypoplasia. Only a small subset of patients with DiGeorge syndrome has complete athymia, classified as complete DiGeorge anomaly; one third of these patients show an eczematous dermatitis, oligoclonal T-cells and lymphadenopathy, known as atypical complete DiGeorge anomaly. Six biopsies from six patients with the distinctive clinical phenotype of atypical complete DiGeorge anomaly were studied. Every biopsy showed exocytosis (100%), parakeratosis, often confluent and spongiosis (100%). Neutrophilic abscesses (50%), dyskeratosis (67%) and satellite cell necrosis (50%) were seen. Perieccrine and perivascular inflammation were seen in half of the cases. Eosinophils were identified (83%); most commonly in both the epidermis and dermis. All of lymphocytes were CD3 positive. Most (83%) of cases contained T-cell intracellular antigen 1 (TIA-1) positive cells. Special testing of the selected patients using spectratyping identified oligoclonal T-cell populations. The presence of dyskeratotic keratinocytes, satellite cell necrosis and parakeratotic scale with neutrophils characterizes the cutaneous rash seen in this subset of complete DiGeorge syndrome patients. Such skin lesions from patients with DiGeorge anomaly should alert the pathologist to the potential diagnosis of atypical complete DiGeorge anomaly. The pathophysiologic role of the oligoclonal T-cells in this entity requires additional study.

Antineutrophilic cytoplasmic antibodies (ANCA) are classically associated with primary vasculitic syndromes, including Churg-Strauss syndrome, microscopic polyangiitis, and Wegeners granulomatosis. Recently, drug induced ANCA positive vasculitis has been reported, most frequently in association with propylthiouracil in Grave’s disease. Cocaine use is known to be associated with pulmonary and systemic eosinophilia as well as various vascular pathology, including vasospasm, atherosclerosis, and vasculitis. We report a case of cocaine associated perinuclear antineutrophilic cytoplasmic antibody (p-ANCA) positive vasculitis. A 46-year-old man with a history of crack cocaine abuse presented with arthralgia, lower extremity edema, and multiple purpuric, tender papules and plaques over the hands and lower extremities. Peripheral blood studies revealed hypereosinophilia, and serologic tests demonstrated a p-ANCA titer of 1:2560. A skin biopsy demonstrated injured small dermal vessels with a perivascular infiltrate of neutrophils, karyorrhectic debris, erythrocytes, and abundant eosinophils. His symptoms and eosinophilia resolved with cessation of cocaine use and intravenous dexamethasone. Following a 2 year period of reported abstinence, the patient relapsed on cocaine and presented with similar clinical, serologic, and histologic findings. Although p-ANCA has been reported in patients with cocaine associated midline destructive lesions, to our knowledge, this is the first report of cocaine associated p-ANCA positive systemic vasculitis.

Incontinentia Pigmenti (IP) is an X-linked dominant genodermatosis with cutaneous, skeletal, ocular, neurological, and dental abnormalities. It has been mapped to chromosome Xq28 encoding the NF-kB essential modulator (NEMO). NEMO regulates many genes, such as those that prevent apoptosis. IP is usually lethal in males. However, patients with Klinefelter syndrome (47, XXY) are able to survive due to one normal X chromosome. We report a case of a male who presented after birth with multiple vesicles in a linear distribution on the calf progressing to persistent hyperpigmentation. At one month of age a punch biopsy showed verrucous hyperplasia with mild hypergranulosis, necrotic dyskeratinocytes and a lichenoid infiltrate composed of lymphocytes, eosinophils and melanophages. A diagnosis of IP was rendered. No additional physical findings were noted. The patient was evaluated for Klinefelter syndrome. While his karyotype was 46, XY by conventional cytogenetics, a dual color interphase FISH detected 92.5% 46, XY and 6.5% 47, XXY. Our patient’s unique genetic array allowed a mechanism to escape and otherwise fatal disorder. This case illustrates the potential utility of using FISH analysis to detect Klinefelter syndrome in a male patient with IP and normal conventional chromosomal analysis.

Infantile fibromatosis (IF) is an uncommon childhood disorder characterized by solitary or muticentric tumors involving skeletal muscle, skin, bones, or viscera. There is a wide morphologic spectrum reflecting various stages of fibroblastic differentiation. We present the clinical and histopathologic findings of a rare case of IF. A seven month old female presented with firm masses over the right elbow (2 × 3 cm.) and right distal clavicle (3 × 4 cm.). Magnetic resonance imaging demonstrated increased T2 signal within the soft tissues of the right axilla, supraclavicular region, and distal humerus. However, there was no evidence for bony involvement. Incisional biopsy of the supraclavicular mass showed a white fibrous grossly appearing tumor. Histologic examination revealed clusters of adipocytes and infiltration of skeletal muscle fibers by a moderately cellular proliferation of ovoid within a fibrous background. There was no atypia, necrosis, or increased mitotic activity. The tumor cells showed diffuse immunoreactivity for vimentin and weak focal positivity for smooth muscle actin. No reactivity was seen with S100. In addition, none of the tumor cells exhibited nuclear estrogen receptor expression by image cytometry. This case is reported in an effort to better define the clinical and histopathologic features of infantile fibromatosis.

Background: Malignant melanoma of the vulva (MMV) accounts for 2% of all melanomas in women with 5-year survival rate of 47%. Lymph node involvement predicts survival in these patients. Ki-67 expression has been correlated with lymph node status in cutaneous melanomas. The aim of this study was to evaluate whether Ki-67 correlates with lymph node metastasis in MMV. Methods: Histomorphology and clinical information of 25 MMV were reviewed. The database was divided in MMV with metastasis (M+) and without lymph node metastasis (M-). A MMV subset was stained for Ki-67 and scored as a percentage (7 patients M+ and 9 patients M-). Results: The age range was 36–88 years-old (mean 63 years-old). The tumor thickness mean was 3.14 mm. The mean Ki-67 expression was 23% for M- and 42.5% for M+(p = 0.07). Correlation of tumor thickness and Ki-67 expression also has a p value of 0.07. Logistic regression analysis was obtained.Conclusions: This study shows that Ki-67 expression is associated with lymph node metastasis in MMV. However, when Ki-67 expression is compared to a classic prognostic indicator such as tumor thickness, it appears to have little or no additional predictive value. Larger studies are needed to confirm these results.

BACKGROUND: DiGeorge Syndrome is a congenital anomaly with a constellation of findings including thymic hypoplasia. Approximately 1 in 250 patients has complete DiGeorge syndrome with athymia. Many athymic patients develop severe eczema/erythroderma associated with oligoclonal circulating T cells. DESIGN: Nine biopsies from eight athymic patients with severe rash and circulating oligoclonal T cells were studied. Immunohistochemistry with CD3, CD4, CD8 and TIA-1 was performed. RESULTS: The stratum corneum showed parakeratosis (78%), most commonly confluent. Neutrophilic abscesses were commonly identified (44%). The epidermis exhibited exocytosis (100%), spongiosis (89%), dyskeratosis (89%), acanthosis (56%), and satellitosis (44%). Dermal changes included perivascular (56%), perifollicular (33%), and perieccrine (11%) lymphocytic infiltrates. Eosinophils were identified (78%); most commonly in both the dermis and epidermis. The majority of lymphocytes were CD3 positive with a slight CD4 over CD8 predominance in the dermis and epidermis. 67% of cases contained TIA-1 positive cells. CONCLUSION: Skin lesions from patients with complete DiGeorge syndrome who develop a rash that clinically resembles severe eczema/erythroderma display a constellation of histologic findings. The presence of dyskeratinocytes, satellitosis, and parakeratotic scale with neutrophils distinguishes these lesions from eczema and other spongiotic disorders. The pathophysiologic role of the inflammatory cells in this entity requires additional study.