Jennifer M McNiff

Yale University, New Haven, Connecticut, United States

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Publications (127)601.03 Total impact

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    ABSTRACT: Perineural granulomas in cutaneous sarcoidosis have been rarely reported and their clinical significance has yet to be evaluated. Recently, a 27 year-old male presented with multiple pink papules on the flank and lower back, accompanied by a painful, burning sensation. Biopsies revealed well-defined granulomas, consistent with sarcoidosis, in the dermis and involving small cutaneous nerves. We hypothesized that perineural granulomas may be an under-recognized feature of cutaneous sarcoidosis, and may be responsible for sensory disturbances. We reviewed cases from 29 consecutive patients with cutaneous sarcoidosis. Perineural granulomas were identified in 18/29 (62%) patients and in 22/40 (55%) biopsies. Perineural granulomas were identified in 7/9 biopsies from the proximal upper extremity, 1/3 from the distal upper extremity, 7/12 from the head and neck, including 4/4 from the nose, 5/9 from the back, 1/2 from the flank, and 1/1 from the proximal lower extremity, and 0/4 from the distal lower extremity. The anatomical distribution is similar to sarcoidosis small-fiber neuropathy (SSFN), in which sarcoidosis patients without evident skin lesions experience sensory disturbances of unknown etiology involving the face, proximal extremities, and trunk. Our results indicate perineural granulomas in cutaneous sarcoidosis are more common than previously appreciated; primarily involve the head, proximal upper extremities, and back; and may be responsible for neurological manifestations. This article is protected by copyright. All rights reserved.
    Journal of Cutaneous Pathology 03/2015; DOI:10.1111/cup.12484 · 1.56 Impact Factor
  • Journal of Investigative Dermatology 02/2015; DOI:10.1038/jid.2015.55 · 6.37 Impact Factor
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    ABSTRACT: Recent data demonstrated somatic mutations in GJB2 that were present in affected porokeratotic eccrine ostial and dermal duct nevus (PEODDN) tissue but absent in unaffected skin. Recognizing that PEODDN lesions can also appear in individuals with keratitis-ichthyosis-deafness syndrome and finding somatic mutations in their cohort, the authors concluded that somatic GJB2 mutation may cause PEODDN. By using whole-exome sequencing, we show that somatic GJB2 mutation alone is sufficient to cause PEODDN. We performed whole-exome sequencing of paired blood and affected tissue samples isolated from a PEODDN lesion of a primary school-aged female patient with bands of hyperkeratotic-affected skin on the upper and lower extremities and trunk, and identified a single, protein-damaging p.Gly45Glu GJB2 mutation present in tissue samples but not in blood samples. Our results prove that somatic GJB2 mutation is sufficient to cause PEODDN. Dominantly inherited GJB2 mutations, including the p.Gly45Glu found in our case, have been shown to cause the severe multisystem disorder keratitis-ichthyosis-deafness syndrome. GJB2 encodes connexin 26, a gap junction protein, which permits intercellular ion and macromolecule flux. Individuals with somatic mosaicism are at risk for transmitting systemic disease to their offspring, and all individuals with PEODDN lesions should be counseled regarding the risk of having a child with keratitis-ichthyosis-deafness syndrome.
    JAMA Dermatology 02/2015; DOI:10.1001/jamadermatol.2014.5069 · 4.30 Impact Factor
  • Jennifer M McNiff
    Journal of the American Academy of Dermatology 01/2015; 72(3). DOI:10.1016/j.jaad.2014.12.005 · 5.00 Impact Factor
  • Ahmed K Alomari, Earl J Glusac, Jennifer M McNiff
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    ABSTRACT: Background Poorly differentiated squamous cell carcinoma (SCC) of the skin may pose a diagnostic challenge for pathologists. p40 is a recently introduced antibody that recognizes specific p63 protein isoforms and has shown superior results labeling non-cutaneous SCC. We hypothesize that p40 may improve diagnostic accuracy of poorly differentiated SCC.Methods Twelve cases of poorly differentiated SCC were stained with p63, p40 and cytokeratin MNF116. Control cases included 9 atypical fibroxanthoma (AFX), 5 cutaneous leiomyosarcoma (LMS), and 3 giant cell tumors of soft tissue (GCTST).ResultsAll twelve cases labeled with p63 and p40, and 11/12 were positive with MNF116. While p40 labeled fewer cells, it showed exclusive nuclear staining, with no staining of cytoplasm or of background cells, in contrast to p63. Six of 9 AFX and 2/3 GCTST showed scattered nuclear staining with p63 but were negative with p40. Additionally, one LMS showed focal staining with MNF116 but was negative with p40.Conclusion For the diagnosis of cutaneous poorly differentiated SCC, p40 appears equally sensitive to MNF116 and p63. While labeling fewer cells, p40 labels without confounding staining of tumor cytoplasm or background cells. More importantly, p40 appears to be more specific for SCC than p63 and MNF116, each of which occasionally labels nonsquamous tumors.
    Journal of Cutaneous Pathology 09/2014; DOI:10.1111/cup.12388 · 1.56 Impact Factor
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    ABSTRACT: ObjectiveA foreign body giant cell (FBGC) reaction may occur in response to implanted xenogenic biomaterials. Here we report a FBGC reaction to the recently introduced xenogenic biomaterial, tarSys™, used for correction of lower eyelid retraction.MethodA retrospective chart review of two patients with FBGC reaction to tarSys™ implantation was performed.ResultsTwo patients (aged 51, 58 yr) with lower eyelid retraction underwent surgical implantation of tarSys™ spacer grafts for correction. Both patients subsequently experienced chronic swelling requiring graft removal. Examination of the specimens showed a palisading FBGC reaction around acellular pink fibrillar material.ConclusionA FBGC reaction may follow implantation of the tarSys™ xenograft.
    Journal of Cutaneous Pathology 07/2014; 41(10). DOI:10.1111/cup.12374 · 1.56 Impact Factor
  • Journal of Investigative Dermatology 01/2014; DOI:10.1038/jid.2014.6 · 6.19 Impact Factor
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    ABSTRACT: A replication study of a previous genome-wide association study (GWAS) suggested that a SNP linked to the POLB gene is associated with systemic lupus erythematosus (SLE). This SNP is correlated with decreased expression of Pol β, a key enzyme in the base excision repair (BER) pathway. To determine whether decreased Pol β activity results in SLE, we constructed a mouse model of POLB that encodes an enzyme with slow DNA polymerase activity. We show that mice expressing this hypomorphic POLB allele develop an autoimmune pathology that strongly resembles SLE. Of note, the mutant mice have shorter immunoglobulin heavy-chain junctions and somatic hypermutation is dramatically increased. These results demonstrate that decreased Pol β activity during the generation of immune diversity leads to lupus-like disease in mice, and suggest that decreased expression of Pol β in humans is an underlying cause of SLE.
    Cell Reports 12/2013; DOI:10.1016/j.celrep.2013.12.017 · 7.21 Impact Factor
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    Ahmed Alomari, Jennifer M. McNiff
    Journal of Cutaneous Pathology 12/2013; DOI:10.1111/cup.12275 · 1.56 Impact Factor
  • Christine J Ko, Jennifer M McNiff
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    ABSTRACT: Intercellular epidermal deposition of immunoglobulin G (IgG) in a continuous net-like or 'chicken wire' pattern is a well-described and diagnostic finding in direct immunofluorescence (DIF) studies of pemphigus. In our experience, punctate or dot-like intercellular deposition of IgG can also be seen in cases of pemphigus but has received little attention in the literature. We describe a series of DIF specimens showing intercellular deposition of IgG in continuous and/or punctate patterns, which occurred with equal frequency in pemphigus vulgaris and pemphigus foliaceus. This series highlights the punctate or dot-like pattern of intercellular IgG deposition in DIF studies of pemphigus, reviews potential mechanisms and calls attention to this potentially under-recognized phenomenon.
    Journal of Cutaneous Pathology 11/2013; 41(3). DOI:10.1111/cup.12272 · 1.56 Impact Factor
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    ABSTRACT: Journal of Investigative Dermatology accepted article preview online, 15 October 2013; doi:10.1038/jid.2013.430.
    Journal of Investigative Dermatology 10/2013; 134(4). DOI:10.1038/jid.2013.430 · 6.19 Impact Factor
  • Journal of the American Academy of Dermatology 08/2013; 69(2):e95-6. DOI:10.1016/j.jaad.2012.03.027 · 5.00 Impact Factor
  • Jaroslaw Jedrych, Jennifer M McNiff
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    ABSTRACT: : The histological discrimination between desmoplastic trichoepithelioma, infiltrative basal cell carcinoma, and microcystic adnexal carcinoma encountered in small biopsies is challenging when only morphological criteria are applied. The objective of this study is to test the use of p75 neurotrophin receptor (p75NTR) as an adjunct aid in classification of these tumors. Immunohistochemistry for p75NTR antigen was performed on routinely processed biopsies of 37 desmoplastic trichoepitheliomas, 11 infiltrative basal cell carcinomas, and 9 microcystic adnexal carcinomas diagnosed by morphological criteria in conjunction with results of CK20 immunostains. Cases were analyzed for the extent and intensity of p75NTR expression. Diffuse immunoreactivity was defined as involving >90% of tumor cells. Of the 37 desmoplastic trichoepitheliomas, 35 (94%) displayed strong diffuse immunoreactivity of tumor cells, proving high sensitivity of the marker to detect this tumor. However, despite the fact that diffuse p75NTR expression reached statistical significance in differentiating desmoplastic trichoepithelioma from infiltrative basal cell carcinoma (Fisher exact test P < 0.0001) and microcystic adnexal carcinoma (P < 0.0016), specificity of the stain is unsatisfactory because strong diffuse expression of p75NTR by neoplastic cells was observed in 4 (36%) cases of infiltrative basal cell carcinomas and 4 (44%) cases of microcystic adnexal carcinoma. This study demonstrates a significant difference in p75NTR expression in selected sclerosing neoplasms of the skin. Nevertheless, the practical value of p75NTR as an adjunct marker in the differential diagnosis of these tumors seems to be limited because of significant overlap in amount of p75NTR immunoreactivity.
    The American Journal of dermatopathology 05/2013; 35(3):308-315. DOI:10.1097/DAD.0b013e31826281f2 · 1.30 Impact Factor
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    ABSTRACT: BACKGROUND: Tumor of the follicular infundibulum (TFI) is an uncommon benign adnexal tumor that usually presents as a solitary keratotic papule in the head and neck area. Infrequently, it may present as multiple lesions or in association with other conditions. Although it was initially described in 1961, the pathogenesis of this lesion is still controversial. METHODS: The clinical and histologic features of 168 cases of TFI were reviewed. Random cases were stained with elastic Van Gieson, cytokeratin (CK)20 and Ber-EP4. Clinical data and clinical images were collected. RESULTS: The median age at presentation was 66 years with a slight female predominance. As subset of patients (7.7%) had multiple TFI, some of which presented with hypopigmented lesions of the head and neck area. TFI has a unique staining pattern; all cases tested showed a brush-like network of elastin fibers, no cases stained for Ber-EP4 and 91.7% of cases show single cell positivity to CK20. This is in contrast to basal cell carcinoma used for comparison purposes. CONCLUSION: TFI is a distinct neoplastic entity with a unique staining pattern and variable clinical presentation. One should be aware of the potential clinical presentation of multiple TFI as hypopigmented lesions especially in the head and neck area.
    Journal of Cutaneous Pathology 02/2013; 40(6). DOI:10.1111/cup.12137 · 1.56 Impact Factor
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    ABSTRACT: Post-vaccinial non-viral folliculitis has been recognized in the past decade as a new adverse cutaneous reaction to smallpox vaccination. Contrary to more serious smallpox vaccine reactions, post-vaccinial non-viral folliculitis has a benign course and resolves spontaneously within approximately 7 days. We describe additional histopathologic findings associated with post-vaccinial non-viral folliculitis, which has only been described once previously. New findings include the presence of a neutrophilic or lymphohistiocytic infiltrate that is concentrated around the hair follicles. We compare our findings to the follicular nature of varicella and herpes zoster infections, generating the hypothesis of deposition of vaccinia protein within folliculosebaceous units as a potential pathophysiologic mechanism behind post-vaccinial non-viral folliculitis.
    Journal of Cutaneous Pathology 11/2012; 40(3). DOI:10.1111/cup.12064 · 1.56 Impact Factor
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    ABSTRACT: EN, epidermal nevi; KEN, keratinocytic epidermal nevi; LOH, loss of heterozygosity; MAPK, mitogen-activated protein kinase; NS, nevus sebaceus
    Journal of Investigative Dermatology 10/2012; 133(3). DOI:10.1038/jid.2012.379 · 6.19 Impact Factor
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    ABSTRACT: Most condyloma are diagnosed clinically (without a biopsy) or histopathologically (if biopsied) without any ancillary testing. In some cases, additional confirmation of productive infection by human papillomavirus (HPV) or typing of HPV is desired, and in situ hybridization (ISH) is the most commonly used test. However, ISH is not readily available in most laboratories and only detects certain genital subtypes of HPV. The aim of this study was to evaluate the sensitivity and specificity of an anti-HPV antibody, in 25 lesions (both HPV induced and non-HPV induced) mostly from the genital region, with comparison to results with ISH and findings on hematoxylin and eosin staining. The sensitivity and specificity for the anti-HPV antibody used in this study are 90.9% and 85.7%, respectively, compared with ISH. Immunohistochemistry with this anti-HPV antibody, like ISH, was generally positive in cases showing koilocytes/koilocytotic atypia (86%). Immunohistochemical staining also detected productive infection with HPV in 23% (3 of 13) of cases without koilocytes/koilocytotic atypia. Thus, although staining is generally positive in cases with diagnostic findings of koilocytes/koilocytotic atypia in hematoxylin and eosin sections, immunohistochemistry can detect HPV in some cases without koilocytes/koilocytotic atypia.
    The American Journal of dermatopathology 10/2012; DOI:10.1097/DAD.0b013e31826a9927 · 1.30 Impact Factor
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    ABSTRACT: The clinical and histopathologic features of regressing keratoacanthomas have not been adequately described in the literature. "True" keratoacanthomas (ie, squamous tumors with evidence of spontaneous resolution) were studied clinically and histopathologically. Nineteen crateriform tumors with a partial biopsy histopathologically compatible with keratoacanthoma were followed over time for correlation with biologic behavior (ie, regression). Tumors displaying spontaneous resolution, arbitrarily defined as a decrease in size of at least 25%, were categorized as keratoacanthomas. Seven regressing keratoacanthomas tended to show flattening before a decrease in diameter. Histopathologically, there was variable epidermal hyperplasia with generally prominent hyperkeratosis, retained crateriform architecture, and dermal fibrosis. This study has a small sample size. Regressing keratoacanthomas show persistent crateriform architecture, clinically and histopathologically. Lesions become flatter before decreasing in diameter, and keratinocytes appear banal and lack glassy pink cytoplasm during regression.
    Journal of the American Academy of Dermatology 04/2012; 67(5):1008-12. DOI:10.1016/j.jaad.2012.02.041 · 5.00 Impact Factor
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    ABSTRACT: The efficacy of allogeneic hematopoietic stem cell transplantation is limited by graft-versus-host disease (GVHD). Host hematopoietic APCs are important initiators of GVHD, making them logical targets for GVHD prevention. Conventional dendritic cells (DCs) are key APCs for T cell responses in other models of T cell immunity, and they are sufficient for GVHD induction. However, we report in this article that in two polyclonal GVHD models in which host hematopoietic APCs are essential, GVHD was not decreased when recipient conventional DCs were inducibly or constitutively deleted. Additional profound depletion of plasmacytoid DCs and B cells, with or without partial depletion of CD11b(+) cells, also did not ameliorate GVHD. These data indicate that, in contrast with pathogen models, there is a surprising redundancy as to which host cells can initiate GVHD. Alternatively, very low numbers of targeted APCs were sufficient. We hypothesize the difference in APC requirements in pathogen and GVHD models relates to the availability of target Ags. In antipathogen responses, specialized APCs are uniquely equipped to acquire and present exogenous Ags, whereas in GVHD, all host cells directly present alloantigens. These studies make it unlikely that reagent-based host APC depletion will prevent GVHD in the clinic.
    The Journal of Immunology 03/2012; 188(8):3804-11. DOI:10.4049/jimmunol.1102795 · 5.36 Impact Factor
  • Jaroslaw Jedrych, David Leffell, Jennifer M McNiff
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    ABSTRACT: Desmoplastic trichoepithelioma (DTE) is a benign follicular tumor occurring most commonly within facial skin of young and middle-aged women, morphologically characterized by a superficial dermal proliferation of basaloid cells growing in narrow strands embedded in a desmoplastic stroma associated with small keratinizing cysts. DTE must be distinguished from other benign epithelial proliferations such as syringoma, microcystic adnexal carcinoma and infiltrating basal cell carcinoma. Among morphological features useful in that distinction, perineural involvement is considered a feature indicative of malignancy. We present a series of seven DTEs with otherwise typical presentation and morphology, nevertheless showing epithelium present in the perineural spaces of adjacent small dermal nerves. Patients ranged in age from 14 to 66 years (mean 44 years). All seven tumors were restricted to dermis, showed strands of basaloid epithelium in desmoplastic stroma and contained CK20-positive cells. Additionally, five of five examined tumors displayed diffuse expression of p75 neurotrophin receptor. Five patients were followed up clinically (follow-up time range: 2 months-4 years). No tumor recurrence was observed in any of these patients. We postulate that perineural involvement is an unusual feature of DTE that should not be equated with malignancy or lead to unnecessary over-treatment.
    Journal of Cutaneous Pathology 03/2012; 39(3):317-23. DOI:10.1111/j.1600-0560.2012.01876.x · 1.56 Impact Factor

Publication Stats

4k Citations
601.03 Total Impact Points


  • 1999–2015
    • Yale University
      • Department of Immunobiology
      New Haven, Connecticut, United States
  • 1998–2013
    • Yale-New Haven Hospital
      • • Department of Pathology
      • • Department of Laboratory Medicine
      New Haven, Connecticut, United States