CD-34-reactive trichodiscoma.
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Antigens, CD34↗
Biomedical subjects
Stephen Somach
Publications and source records attributed to Stephen Somach.
A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma.
OBJECTIVE: To analyze the 3beta-hydroxysteroid dehydrogenase (NSDHL) gene in verruciform xanthoma (VX) to elucidate its potential role in the histogenesis of this lesion. DESIGN: DNA was extracted from paraffin-embedded tissue, followed by polymerase chain reaction amplification of exons 4 and 6 of the NSDHL gene. The polymerase chain reaction products were then directly sequenced and analyzed for the presence of somatic mutations. PATIENTS: Nine lesions of VX from 8 patients and 3 unrelated normal controls were evaluated. RESULTS: Two of 9 VXs (22%) demonstrated a novel somatic missense mutation in exon 6 of the NSDHL gene. The mutation was not present in the remaining 7 lesions of VX, nonlesional internal controls, and 3 unrelated normal controls. No mutation of exon 4 was found in any case. Mutations of exons 4 and 6 previously identified in CHILD syndrome were not seen in our cases. CONCLUSIONS: (1) A novel missense mutation (R199H) in exon 6 of the NSDHL gene was identified in a small subset of sporadic VXs. (2) Known CHILD syndrome mutations in exons 4 and 6 of the NSDHL gene do not contribute to the histogenesis of sporadic VXs.
3-Hydroxysteroid Dehydrogenases↗
Impact of thorough block sampling in the histologic evaluation of melanomas.
OBJECTIVE: To determine if changes in histologic parameters obtained from intermittent sampling of the entire block correlated with differences in prognosis and management. DESIGN: Prospective analysis of skin biopsy specimens. SETTING: Skin pathology laboratory. Patients One hundred consecutive patients with an unequivocal diagnosis of melanoma. Interventions Two initial slides were prepared from serial sections of 5-mum thickness. When evaluation of the initial slide revealed melanoma, 5 additional slides were obtained by sectioning at levels through the entire block. Breslow depth, Clark level, ulceration, tumor infiltrating lymphocytes, vascular invasion, regression, presence of a precursor lesion, and histologic type of melanoma for the first slide and the additional 6 slides were analyzed and compared. RESULTS: Review of the additional 6 slides from level sectioning revealed a greater maximum tumor thickness than was evident from the original slide in 43% of the cases. In 10 of these cases, the new maximum tumor thickness measurements changed the surgical management of the patients. Ulceration was observed in 6% of cases on the initial slides, and an additional 3% of lesions were found to have ulceration on levels. The level of invasion was deeper than originally found in 10% of the cases. CONCLUSIONS: Level sectioning through an entire block of a melanoma specimen provides additional information in the classification and management of melanomas. Extensive block sampling will result in more accurate information regarding histologic parameters of melanoma, but the yield must be balanced with the extra cost of materials, time, labor, and the potential disadvantage of not retaining tissue for future use.
Adult↗
Cutaneous angiosarcoma: a case series with prognostic correlation.
BACKGROUND: Cutaneous angiosarcoma (CA) is a rare and aggressive endothelial-derived sarcoma. Few large studies have examined the clinicopathologic and prognostic attributes of CA. OBJECTIVES: We sought to discern the potential prognostic significance of a variety of demographic features (i.e., age, sex, location), histologic attributes (i.e., depth of invasion, tumor necrosis, tumor cell morphology, margin status, mitoses), and follow-up data (i.e., tumor recurrence, metastases) in CA. METHODS: The statistical influence of age, sex, anatomic location, tumor depth of invasion, tumor cell morphology, presence or absence of necrosis, number of mitoses, and margin status on time to tumor recurrence and metastases were examined in a series of 47 patients with CA. Angiosarcoma arising within the breast, in a previously irradiated anatomic site, and a pre-existing vascular malformation or one associated with a lymphedematous extremity were excluded from study. RESULTS: Most of the patients were men (76%), with an average age of 75.1 years (range: 59-92 years). The most common location was the head and neck region (96%). The most common presentation was of a rapidly expanding erythematous patch, and the most common clinical impression was angiosarcoma. The average external diameter of the tumor was 5.3 cm (range: 1.1-8.9 cm). The most common histologic pattern was characterized by anastomosing dissecting sinusoids lined by atypical endothelial cells (64%) with 15% of cases showing a diffuse epithelioid or spindle cell proliferation and 21% showing a mixture of the 2 histologic patterns. The average depth of tumor invasion was 2.86 mm (range: 1.8->6.0 mm). Of the tumors, 78% had a mitotic rate that exceeded 3/mm(2). Follow-up was available in 37 of the patients and ranged from 6 to 65 months. The 5-year local recurrence rate was 84% and the overall 5-year survival was 34%. Most patients died as a result of their disease with widespread pulmonary, cardiac, and/or brain metastases. CONCLUSIONS: Of the gross and histologic features, external diameter (>5 cm), depth of invasion (>3 mm), mitotic rate (>3 HPF), positive surgical margins, tumor recurrence, and metastases correlated with adverse outcome by univariate analysis and, with the exception of mitotic rate, by multivariate analysis. Of the foregoing, tumor diameter, depth of invasion, positive margins, metastases, and tumor recurrence were the most robust predictors of outcome. None of the demographic factors was associated with outcome. This study confirms the poor prognosis of patients with CA. Among all demographic and histologic patterns examined for prognostic significance, tumor diameter, tumor depth of invasion, margin status, tumor recurrence, and metastases emerged as the most important determinants of outcome.
Age Factors↗
Multiple follicular cysts, infundibular type with vellus hairs and solar elastosis of the ears: a new dermatoheliosis?
BACKGROUND: Vellus hair cyst is an uncommon developmental abnormality of the vellus follicle histologically defined as a stratified squamous epithelial-lined cyst containing one or more vellus hairs. METHODS: Herein, we report three patients with a heretofore described clinicopathologic condition consisting of multiple contiguous cysts of the ear helices showing solar elastosis and multiple cysts containing vellus hairs, microscopically. CONCLUSION: Given the anatomic location, history of excessive ultraviolet exposure and pathologic alterations, we surmise that this is a condition related to Favre-Racouchot syndrome, which is predisposed by excessive ultraviolet light exposure.
Aged↗
Histomorphologic and immunophenotypic analysis of fibrofolliculomas and trichodiscomas in Birt-Hogg-Dube syndrome and sporadic disease.
BACKGROUND: Fibrofolliculomas and trichodiscomas are benign dermal neoplasms that likely derive from the mantle of the hair follicle and can occur sporadically or in association with Birt-Hogg-Dube syndrome (BHDS). Little is known about the pathogenesis and immunophenotypic properties of these entities. METHODS: We investigated the histomorphologic and immnophenotypic properties of 15 fibrofolliculomas and trichodiscomas in two patients with BHDS and eight with sporadic disease. RESULTS: We found the following: (1) fibrofolliculomas and trichodiscomas occurring in the setting of BHDS show microscopically contiguous histomorphologic features as compared to those occurring sporadically; (2) the immunophenotypic characteristics of syndromic-associated and sporadic types are identical and consist of (3) perifollicular vimentin (+), CD34 (+) and Factor XIII (-) spindle cells. CONCLUSIONS: Despite subtle histomorphologic differences, trichodiscomas and fibrofolliculomas are immunophenotypically similar, and are thus likely derived from a similar histogenic precursor. Given the previously reported CD34 (+) immunophenotype of the hair mantle, our findings would support an origin of these lesions from the mantle of the hair follicle. The proliferation of CD34 (+) spindle cells seen in conjunction with these lesions should not be confused with other CD34 (+) dermal entities.
Adult↗
Oncocytic metaplasia occurring in a spectrum of melanocytic nevi.
Oncocytosis is defined as a metaplastic change characterized by the presence of cells with finely granular eosinophilic cytoplasm caused by the accumulation of mitochondria. Although this histologic feature can be found in normal tissues, it can also be seen pathologically as a degenerative phenomenon, where an accumulation of mitochondria is thought to compensate for an uncoupling of oxidative metabolism secondary to cellular aging. Oncocytic metaplasia can be observed in a variety of cutaneous lesions but, to our knowledge, has not been described in melanocytic nevi. We retrospectively reviewed 87 melanocytic nevi from 83 patients that showed significant oncocytic change. We obtained patient clinical history through surveys completed by the patients' physicians. Ultrastructural studies were performed on 4 representative nevi to confirm the presence of increased mitochondria. We prospectively reviewed 100 randomly selected nevi looking for oncocytic changes. We subsequently did not find any correlation with patient demographics or medical histories. Histologic evaluation showed granular eosinophilic cytoplasm in 75% or greater of lesional cells in two thirds of cases. This phenomenon occurred in all types of melanocytic nevi. Ultrastructural studies revealed melanocytes with numerous mitochondria in close apposition to melanosomes. Focal oncocytic change was identified prospectively in 38 of 100 randomly selected melanocytic nevi. We conclude that oncocytosis in melanocytic nevi is a relatively common and underrecognized phenomenon.
Adolescent↗
Epidermodysplasia verruciformis in two half brothers with HIV infection.
BACKGROUND: Epidermodysplasia verruciformis (EV) is a rare disorder characterized by widespread flat and common verrucae. From 25% to 50% of EV cases are inherited, usually with an autosomal recessive pattern. An X-linked inheritance has also been reported. Many EV patients have a cellular immunity defect. HIV-associated lesions have been found to contain HPV-5, HPV-8, and HPV-20. OBJECTIVE: We describe two HIV-positive Hispanic maternal half brothers who presented with asymptomatic polyangular papules and plaques on the face, trunk, and extremities and which first appeared 4-5 years prior. The histopathology is consistent with EV. HPV-8 was detected by in situ hybridization. The patients were treated with topical imiquimod for two months without improvement. CONCLUSION: To our knowledge, this is the first reported case of epidermodysplasia verruciformis in HIV-positive pediatric patients.
Child↗