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Biomedical subjects

James E Fitzpatrick

Publications and source records attributed to James E Fitzpatrick.

At least 19 recordsLinked to original sources
PubMed2006

Kindler syndrome: a new mutation and new diagnostic possibilities.

BACKGROUND: Kindler syndrome (KS) is a rare genetic disorder that is characterized by blistering in infancy, followed by the onset of poikiloderma and photosensitivity in childhood. The recently elucidated molecular pathogenesis involves mutations in KIND1, a gene encoding the protein kindlin-1, which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal keratinocytes. OBSERVATIONS: We describe a child with the neonatal diagnosis of epidermolysis bullosa simplex who developed poikiloderma and skin fragility at 6 years of age. His skin showed diminished staining with anti-kindlin-1 antibody, and genetic analysis revealed that he was a compound heterozygote with a previously unreported mutation in KIND1. Ultrastructural clues to the diagnosis of KS were present in a biopsy specimen that was obtained when the patient was 10 months old, before he developed poikiloderma and photosensitivity. CONCLUSIONS: In this case, a combination of a known mutation (R271X) and a newly described mutation (1755delT) in the KIND1 gene produced loss of function in kindlin-1, leading to the clinical features of KS. Ultrastructural findings characteristic of KS were evident years before the onset of poikiloderma and sun sensitivity. In infancy, electron microscopy can enable early, accurate diagnosis of KS.

Child↗
PubMed2006

Granulomatous reaction to titanium alloy: an unusual reaction to ear piercing.

A 68-year-old man presented with 4 firm, flesh-colored, and slightly erythematous nodules located on the superior pole and lobule of each ear. Although reluctant to provide details, it was discovered he had pierced his ears approximately 10 years earlier, and the nodules developed at the sites of the piercings. Keloids were suggested clinically and the lesions were excised. Microscopic examination demonstrated epithelialized tracts surrounded by a granulomatous infiltrate of macrophages, lymphocytes, and plasma cells. Closer examination revealed minute brown-black particles within macrophages. Dark-field microscopy confirmed the metallic nature of the particles. Environmental scanning electron microscopy with energy dispersive spectroscopy revealed the particles to be composed of titanium, aluminum, and vanadium. It would appear that in rare circumstances titanium alloy used in body piercing may engender a granulomatous dermatitis. The rarity of such a response to titanium alloy is discussed and the literature appraised.

Aged↗
PubMed2006

Expression of c-kit (CD117) in Spitz nevus and malignant melanoma.

BACKGROUND: CD117, the receptor for kit-ligand, which is a growth factor for melanocyte migration and proliferation, has shown differential staining in various benign and malignant melanocytic lesions. The purpose of this study is to compare CD117 immunohistological staining in Spitz nevus versus malignant melanoma, to determine whether CD117 can aid in the diagnosis of these two lesions. METHODS: CD-117 immunohistological staining was performed in 22 clinically and pathologically diagnosed pigmented lesions including 9 cases of Spitz nevus, 10 cases of primary MM and 3 cases of metastatic melanoma. RESULTS: There was no significant difference in CD117 staining in either epidermis or dermis between Spitz nevi and primary melanomas. However staining of metastatic melanomas is less than dermal staining of primary MM and Spitz nevus. CONCLUSIONS: CD117 is unlikely a useful diagnostic tool in differentiating Spitz nevus from primary MM. On the other hand, CD 117 may be useful in differentiating metastatic melanoma from primary melanoma in patients who had a history of melanoma and who present with new dermal lesions.

Biomarkers, Tumor↗
PubMed2005

Congenital curvilinear palpable hyperpigmentation.

We report two cases of congenital curvilinear palpable hyperpigmentation on the posterior aspect of bilateral legs in male infants. These lesions appeared shortly after birth and mimicked child abuse with looped cord or postinflammatory hyperpigmentation. Histopathologic features showed lentiginous melanocytic hyperplasia. One of the boys also had severe global developmental delay with abnormal findings from magnetic resonance imaging of the brain. We believe that these lesions represent a new type of congenital hyperpigmentation that we termed "congenital curvilinear palpable hyperpigmentation." Although these lesions do not follow the lines of Blaschko, they may also be associated with neurologic and developmental abnormalities.

Child, Preschool↗
PubMed2005

Completely regressed primary cutaneous malignant melanoma with nodal and/or visceral metastases: a report of 5 cases and assessment of the literature and diagnostic criteria.

BACKGROUND: Partial regression of primary cutaneous malignant melanoma is not uncommon and may predict a higher likelihood of metastasis and decreased survival. Complete histologic regression of a primary cutaneous melanoma is a rarer occurrence, with only 34 cases reported in the English-language or English language-summarized literature. OBSERVATION: We detail 4 cases of complete histologic regression of primary cutaneous melanoma, discovered at presentation with metastatic disease. A pigmented lesion or its remnant, coupled with historical information, was strongly suggestive of cutaneous melanoma. Histologic examination of the lesions, using multiple levels and immunohistochemical stains, failed to reveal residual melanoma. Our cases are typified by the presence of metastasis of melanoma to regional lymph nodes, with the absence of other suspect skin lesions or malignancies. In addition, we present a fifth case involving a completely regressed lesion on the scalp in a patient with cerebral melanoma metastasis and comment on the implications of this case to accepted diagnostic criteria, proposing that consideration of modification to the criteria be entertained. CONCLUSION: The concept of completely regressed primary cutaneous melanoma is reviewed and the literature critically appraised. When one considers a diagnosis of completely regressed primary cutaneous melanoma, cases must be well documented and biopsy proven. Patients with metastatic melanoma and an occult primary lesion require a thorough skin examination, with serious consideration given to the possibility of completely regressed cutaneous melanoma.

Adult↗
PubMed2005

Vulvar clear cells of Toker: precursors of extramammary Paget's disease.

Clear cells of Toker are intraepithelial cells with clear to pale staining cytoplasm and bland cytologic features found with H&E staining in approximately 10% of normal nipples. Toker cells have been hypothesized as a precursor of extramammary Paget's disease (EMPD), although Toker cells have not been identified as a normal component of genital skin. Using immunohistochemistry, we studied 11 vulvectomies for the presence of Toker cells in association with mammary-like glands of the vulva (MLG). A retrospective study of 11 vulvectomies was performed using routine hematoxylin and eosin staining, as well as immunohistochemical staining for cytokeratin 7 (CK7). Control sections of skin not involving the milk line from age-matched patients were also examined. Four of eleven vulvectomies (36%) demonstrated Toker cells with CK7 staining. Toker cells were associated with the openings of the ducts of mammary-like glands of the vulva. Toker cells were not seen in control tissues. Toker cells occur as a normal constituent of genital skin in association with mammary-like glands of the vulva. Previous morphologic, immunohistochemical, and ultrastructural evidence have pointed to Toker cells as a precursor of EMPD. The demonstration of Toker cells in genital skin strengthens the evidence of their role in the development of EMPD.

Adult↗
PubMed2004

Eugenol causes melanoma growth suppression through inhibition of E2F1 transcriptional activity.

Metastatic malignant melanoma is an extremely aggressive cancer, with no currently viable therapy. 4-Allyl-2-methoxyphenol (eugenol) was tested for its ability to inhibit proliferation of melanoma cells. Eugenol but not its isomer, isoeugenol (2-methoxy-4-propenylphenol), was found to be a potent inhibitor of melanoma cell proliferation. In a B16 xenograft study, eugenol treatment produced a significant tumor growth delay (p = 0.0057), an almost 40% decrease in tumor size, and a 19% increase in the median time to end point. More significantly, 50% of the animals in the control group died from metastatic growth, whereas none in the treatment group showed any signs of invasion or metastasis. Eugenol was well tolerated as determined by measurement of bodyweights. Examination of the mechanism of the antiproliferative action of eugenol in the human malignant melanoma cell line, WM1205Lu, showed that it arrests cells in the S phase of the cell cycle. Flow cytometry coupled with biochemical analyses demonstrated that eugenol induced apoptosis. cDNA array analysis showed that eugenol caused deregulation of the E2F family of transcription factors. Transient transfection assays and electrophoretic mobility shift assays showed that eugenol inhibits the transcriptional activity of E2F1. Overexpression of E2F1 restored about 75% of proliferation ability in cultures. These results indicate that deregulation of E2F1 may be a key factor in eugenol-mediated melanoma growth inhibition both in vitro and in vivo. Since the E2F transcription factors provide growth impetus for the continuous proliferation of melanoma cells, these results suggest that eugenol could be developed as an E2F-targeted agent for melanoma treatment.

Animals↗
PubMed2003

Clear cells of Toker in accessory nipples.

BACKGROUND: Clear cells of Toker are intraepithelial cells with clear to pale staining cytoplasm and bland cytologic features found in approximately 10% of normal nipples. Toker cells have been hypothesized as a precursor of extramammary Paget's disease (EMPD), although the distribution of Toker cells outside of the nipples has not been studied. Using immunohistochemistry, we studied 20 cases of accessory nipples for the presence of Toker cells. METHODS: A retrospective study of 20 cases of accessory nipples was performed using routine hemotoxylin and eosin staining, as well as immunohistochemical staining for CK7, CK20, EMA, and GCDFP-15. RESULTS: Thirteen out of 20 accessory nipples (65%) demonstrated Toker cells with CK7 staining. Toker cells in six of the 13 cases were also positive for EMA. Only one case with Toker cells showed immunoreactivity for antibodies to GCDFP-15. CONCLUSIONS: Toker cells occur outside the normal nipple epidermis in the epidermis of accessory nipples. The distribution of Toker cells along the milk line correlates with the distribution of most cases of EMPD along the milk line, especially in the groin and axillae. Further studies are necessary to define the relationship between Toker cells and EMPD.

Apolipoproteins↗
PubMed2003

Verrucous porokeratosis of Mibelli on the buttocks mimicking psoriasis.

The typical presentation of porokeratosis of Mibelli is of a solitary plaque with a prominent raised border cleaved by a central furrow. The central portion of the plaque is usually slightly atrophic. The plaques vary in size from a few millimeters to several centimeters in diameter and tend to be acrally distributed, though they can occur on any part of the body. We report an unusual case of verrucous porokeratosis of Mibelli, localized to the natal cleft, that mimicked psoriasis. This entity, though unusual, is not unique. Two similar cases of verrucous porokeratosis of Mibelli limited to the natal cleft region and resembling psoriasis have been reported in the British literature. Verrucous porokeratosis of Mibelli localized to the natal cleft appears to be a distinct clinical entity that can mimic psoriasis. Better recognition of this form of porokeratosis of Mibelli may result in earlier diagnosis and initiation of appropriate therapy.

Buttocks↗
PubMedDate not supplied

Giant cell fibroblastoma in a child misdiagnosed as a dermatofibroma.

We report a 9-year-old African-American boy with a giant cell fibroblastoma of the shoulder that was incorrectly diagnosed as a keloid and dermatofibroma. Initial misdiagnosis led to a delay of 4 years in the correct diagnosis, with the tumor producing significant local destruction. We review herein the clinical manifestations, histologic findings, histogenesis, relationship to dermatofibrosarcoma protuberans (DFSP), treatment, and differential diagnosis of giant cell fibroblastoma (GCF). This information is important in correctly diagnosing this uncommon, benign, but locally aggressive and recurrent tumor of childhood. The clinician should consider GCF and DFSP when the pathologic diagnosis of dermatofibroma is made in lesions more than 2 cm in diameter, or when this diagnosis is made in a prepubertal child.

Child↗
PubMedDate not supplied

Self-healing juvenile cutaneous mucinosis.

A healthy 14-month-old black girl presented with a 3-week complaint of "knots" on the face and hands. The lesions were acute in onset and asymptomatic. Multiple, firm, nontender, skin-colored to erythematous nodules were noted on the scalp, forehead, axillae, lower legs, abdomen, and hands. A skin biopsy specimen revealed a well-circumscribed accumulation of mucin in the reticular dermis. Colloidal iron stain was positive. Radiographs showed soft tissue prominence only. Serum protein electrophoresis, thyroid function tests, complete blood count, sedimentation rate, and antinuclear antibody were normal, except for lymphocytosis. Findings were consistent with self-healing juvenile cutaneous mucinosis (SHJCM). SHJCM is a condition of unknown etiology characterized by rapid onset of asymptomatic, indurated papules or nodules. Affected children may have arthralgias, but are otherwise well. Spontaneous resolution is the rule. Most skin lesions in our patient had resolved within 6 months of onset. This patient is unique because of the young age of onset.

Biopsy, Needle↗