Several million people are exposed to dioxin and dioxin-like compounds, primarily through food consumption. Skin lesions historically called "chloracne" are the most specific sign of abnormal dioxin exposure and classically used as a key marker in humans. We followed for 5 years a man who had been exposed to the most toxic dioxin, 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), at a single oral dose of 5 million-fold more than the accepted daily exposure in the general population. We adopted a molecular medicine approach, aimed at identifying appropriate therapy. Skin lesions, which progressively covered up to 40% of the body surface, were found to be hamartomas, which developed parallel to a complete and sustained involution of sebaceous glands, with concurrent transcriptomic alterations pointing to the inhibition of lipid metabolism and the involvement of bone morphogenetic proteins signaling. Hamartomas created a new compartment that concentrated TCDD up to 10-fold compared with serum and strongly expressed the TCDD-metabolizing enzyme cytochrome P450 1A1, thus representing a potentially significant source of enzymatic activity, which may add to the xenobiotic metabolism potential of the classical organs such as the liver. This historical case provides a unique set of data on the human tissue response to dioxin for the identification of new markers of exposure in human populations. The herein discovered adaptive cutaneous response to TCDD also points to the potential role of the skin in the metabolism of food xenobiotics.
Porokeratoma is a rare, relatively newly described and still unclear entity. Here, we describe the case of a 52-year-old male patient who presented with four well-defined, verrucous and hyperkeratotic lesions. Microscopically, one of the lesions showed acanthopapillomatosis overlying compact orthokeratosis. Prominent broad and confluent cornoid lamellae were present, with no granular layer and some dyskeratotic keratinocytes. PCR sequencing and in situ hybridization revealed the presence of human papillomavirus (HPV) type 16 in the lesion. The association of porokeratoma and HPV infection has not previously been reported.
There is still debate on whether inflammatory pseudotumor should be considered benign or malignant. This lesion has only been reported twice in bone, apart from cases complicating foreign body reaction to joint replacement arthroplasty. We report here a third case, localized at the sacrum. A 31-year-old man had inflammatory dorsalgia and polyarthralgia without synovitis but with fever, asthenia, and erythema nodosa. Biological tests and X-rays were not informative, but technetium scintigraphy revealed a high level of left sacroiliac tracer binding. Several nonsteroidal anti-inflammatory drugs and sulfasalazine treatment were given over 3 months but ineffective. Pelvic magnetic resonance imaging showed an osteolytic tumor of the sacrum. Biopsy suggested a malignant fibrosarcoma, but complete evaluation after surgical resection demonstrated an inflammatory pseudotumor. All clinical symptoms disappeared within a few days after surgery, which is suggestive of a paraneoplastic syndrome. No relapse has occurred after 4 years.
A 63-year-old Swiss patient developed acquired nodules on his right palm after 3 localized surgeries, called ‘needle fasciotomy’, for Dupuytren’s disease. Kaposi’s sarcoma (KS) was diagnosed in a biopsy of a nodule. A positive immunolabeling and serology for human herpesvirus 8 has been found, but human immunodeficiency virus and hepatitis C identification remained negative. The nodules were limited to the surgically traumatized area. This first report of a nonimmunocompromised patient developing a KS after repeated surgeries in a unique peculiar localized area with a dense lymphatic network sustains the hypothesis that tissue alterations involving the lymphatic system could play a central role in the occurrence of KS.
Primary cutaneous follicle centre lymphoma (PCFCL) is a rare cutaneous B cell lymphoma in middle-age adults with excellent prognosis. Here we present a case of a patient with a PCFCL in the form of a giant tumour of the scalp in combination with a myeloproliferative neoplasm, JAK2V617F positive essential thrombocythaemia. This case may be of interest because of the favourable outcome in spite of the large size of the PCFCL, the rare combination with essential thrombocythaemia and because it contributes to discussion on the role of JAK2 mutation in such patients.
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