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Follicular mucinosis in an 11-year-old boy.
Full text linkFollicular mucinosis (FM) is a histological term which means accumulation of mucin, i.e. mucopolysaccharides or glucosaminoglycans, in the outer sheath of the hair follicle and in the sebaceous gland; this histological picture can be found, in addition to idiopathic FM, in numerous benign conditions, such as lupus erythematosus (8), eosinophilic folliculitis (4), epidermal nevi (7), leprosy (3), and malignant disorders as follicular lymphomatoid papulosis (6) and especially folliculotropic mycosis fungoides (FMYF). The equivalent term of alopecia mucinosa, which introduces a clinical sign – alopecia – seems more appropriate to define the disease. However, alopecia is not always evident, especially when is not affected an area of skin with terminal hair.
Follicular mucinosis presents clinically with clustered skin-colored papules or erythematous, sometimes scaling plaques, in which follicular reliefs may be evident. Based on the clinical course, we distinguish a form with one or a few lesions that resolve spontaneously within a few months, a form with more numerous elements, of more variable morphology that recur for many years and a form associated with lymphoma, generally with mycosis fungoides.
The most important clinical problem is the distinction between idiopathic FM and FM associated with lymphoma, especially mycosis fungoides (1, 8). FMYF is the most frequent lymphoma associated with FM. However, the frequency of the association varies according to the different Authors between 9.4 and 64% of all cases of FM (1). Although FMYF can occur several years after the diagnosis of FM, in most cases FM and FMYF occur simultaneously (1). With regard to the association MF-FMYF children and more generally young patients and female subjects are less likely to have an associated FMYF (5). Most Authors agree that the onset of FM in the head with one or a few lesions has a benign clinical course (2). Monoclonality and TCR gene rearrangement, although more frequent in FMYF-associated forms of FM, do not represent a sure sign of malignancy (1).
The present case was presented for its rarity; the presence of a single head lesion in a young boy and the polyclonal nature of the infiltrate speak in favor of a benign course, not excluding the need for careful clinical monitorin
DERMATOFIBROSARCOMA PROTUBERANS IN A 5-YEAR-OLD CHILD.
Full text linkDermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing but progressive soft tissue fibroblastic sarcoma with a high tendency to relapse, but with very low metastatic potential. In children it is even rarer than in adults with an estimated incidence of 1 per million per year (5). How-ever, there are also congenital cases (3). In the child there is no different distribution between the two sexes and it is localized in the limbs in two thirds of cases, in the trunk in a third (4).
The histological examination is decisive for the diagnosis, which is based on the presence of a proliferation of fibroblastic appearance with a storiform arrangement, poor peripheral delimitation, invasion of the subcutaneous tissue, positivity of proliferating cells with CD-34, low mitotic index. The histological examination also serves to differentiate DFSP from fibrosaroma, which has a worse prognosis due to its ability to metastasize.
Once the histological examination has confirmed the clinical suspicion of DFSP, the therapeutic problem arises. After evaluating the extent of the neoplasm with MRI or CT scan, it is still necessary to remove the tumor, if a biopsy has been done, or to reoperate on the scar if the tumor has been already removed, with a margin of 2 cm (1). Relapses are less frequent in the child. However, they occur between 9 (2) and 15% (4) after complete remission, attested by imaging and histologically free margins. For this reason, even after a complete remission, it is necessary to monitor the child for years.
In advanced, unresectable or metastasizing cases, therapy with imatinib has been tried (2). The latter is a monoclonal antibody directed against the platelet-derived growth factor (PDGF), which is characteristically dysregulated in DFSP, due to a chromosomal translocation t(17;22), whereby the PDGF-beta gene on chromosome 22 fuses with the alpha collagen gene of type 1 (COL1A1) on chromosome 17. The translocation is also used in diagnosis because it is almost constantly present in DFSP (4).
The prognosis of DFSP is good especially in children with 100% survival at 5 years (4).
The current case has been described for its rarity and to reiterate the need for timely radical excision with sufficiently large margins and prolonged follow-up in affected children
Congenital atrioventricolar block (CAVB) in neonate with neonatal lupus sindrome. Clinical and pathological data
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