A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome.

BACKGROUND: It is important to better understand the role that environmental risk factors play on the development of esophageal cancer in Howel-Evans families. Additionally, there is little published about appropriate esophageal cancer screening practices in families genetically confirmed to have this condition. METHODS: Surveys were distributed to 47 addresses of an American family with Howel-Evans syndrome, of which 29 responded and met inclusion criteria. Data was collected about demographics, environmental risk factors, and medical history of participants. RESULTS: We report characteristics of family members with tylosis, rates of esophageal cancer, rates of genetic counseling, and levels of environmental risk factors. Of the survey respondents, 43% reported features of tylosis, 71.4% were male and 28.6% were female and 28.6% reported leukoplakia. Only 21.4% of tylotic family members smoked, 65% drank alcohol, and 28.6% drank well water. More than half (57.1%) of the tylotic individuals had never had an esophagogastroduodenoscopy (EGD) and no one had been diagnosed with esophageal carcinoma. Only 3.4% of respondents had ever received genetic testing for Howel-Evans syndrome, despite genetic confirmation of their relatives. CONCLUSIONS: We encourage dermatologists to discuss smoking-cessation, genetic counseling, and early EGD with affected families.

New variant lymphomatoid papulosis type E preceding and coexisting with mycosis fungoides - a case report and review of the literature.

Angioinvasive (type E) lymphomatoid papulosis (LyP) is a recently described subtype of LyP presenting with eschar-like lesions that can be mistaken for aggressive forms of angiocentric cutaneous T-cell lymphoma. None of the cases of angioinvasive LyP described thus far have been associated with mycosis fungoides (MF). Herein, we describe a case of angioinvasive LyP type E coexisting with MF. The patient presented with an eschar on his chest and over time developed new nodules and large plaques with eschar formation, all of which resolved spontaneously over a period of a few weeks without intentional therapy. Biopsy revealed a CD30+ atypical inflammatory cell infiltrate with marked angiocentricity. Later, he developed erythematous annular scaly patches histologically consistent with MF. Our patient's clinical course confirms the indolent behavior characteristic of LyP despite the aggressive clinical and histologic appearance of lesions. The co-occurrence of angioinvasive LyP and MF in our patient highlights the propensity for LyP type E to coexist with MF, as is characteristic of other LyP subtypes, and supports the theory that LyP and MF are related T-cell lymphoproliferative disorders. Patients with LyP can present with large lesions exhibiting eschar formation and an atypical angiocentric/angiodestructive lymphoid infiltrate and should be spared overtreatment.

Targeting the intracellular MUC1 C-terminal domain inhibits proliferation and estrogen receptor transcriptional activity in lung adenocarcinoma cells.

Mucin 1 (MUC1) is a diagnostic factor and therapy target in lung adenocarcinoma. MUC1 C-terminal intracellular domain (CD) interacts with estrogen receptor (ER) α and increases gene transcription in breast cancer cells. Because lung adenocarcinoma cells express functional ERα and ERß, we examined MUC1 expression and MUC1-ER interaction. Because blocking MUC1 CD with an inhibitory peptide (PMIP) inhibited breast tumor growth, we tested whether PMIP would inhibit lung adenocarcinoma cell proliferation. We report that MUC1 interacts with ERα and ERß within the nucleus of H1793 lung adenocarcinoma cells in accordance with MUC1 expression. PMIP was taken up by H23 and H1793 cells and inhibited the proliferation of H1793, but not H23 cells, concordant with higher MUC1 protein expression in H1793 cells. Lower MUC1 protein expression in H23 does not correspond to microRNAs miR-125b and miR-145 that have been reported to reduce MUC1 expression. PMIP had no effect on the viability of normal human bronchial epithelial cells, which lack MUC1 expression. PMIP inhibited estradiol-activated reporter gene transcription and endogenous cyclin D1 and nuclear respiratory factor-1 gene transcription in H1793 cells. These results indicate MUC1-ER functional interaction in lung adenocarcinoma cells and that inhibiting MUC1 inhibits lung adenocarcinoma cell viability.

Synchronous squamous cell carcinoma in multiple digits.

Cancers of the perionychium are relatively rare occurrences and are often related to chronic inflammation associated with trauma, infection, exposure to ultraviolet radiation, or other carcinogens. Squamous cell carcinoma is the most common tumor reported of the nail bed. Synchronous squamous cell carcinomas of the perionychium have been rarely reported. We present a case of a 46-year-old woman with synchronous squamous cell carcinomas involving both hands and multiple digits. Treatment modalities include chemotherapeutics, Mohs surgery, and amputation. Early diagnosis of squamous cell carcinoma of the nail bed provides the greatest chance to preserve maximal function of the hand. Onychomycosis may be the presenting symptom of a patient with squamous cell carcinoma and may also be a predisposing factor in patients with occupational risk factors. Suspicion of this disease process can help the clinician establish the diagnosis via biopsy and provide optimal care for these patients.