Cases reported "Skin Diseases"

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1/26. Glial heterotopia in the subcutaneous tissue overlying T-12.

    Heterotopic glial nodules occur most commonly in the head and neck area, and are theorized to arise following abnormalities in the development of the facial and skull bone plates. However, in spite of the fact that some of these lesions are associated with communication with the central nervous system (CNS), the lack of a meningeal component, argues against simple herniation and separation of brain tissue through a defect in the skull. We present an infant with a nodule directly over the spine present in the T-12 region with no skin abnormalities. magnetic resonance imaging (MRI) and computerized axial tomography (CT) showed no spinal abnormalities with an overlying fibrotic soft tissue mass. The patient had no other associated clinical findings. Histologic findings showed a cellular component arising within the reticular dermis with a deep circumscribed margin. The nodule contained irregularly shaped cells containing abundant cytoplasm and indistinct cellular margins with bland nuclei. These cells were clustered around and between a fibro-mucinous stroma. Immunohistochemical stains showed positive staining for S-100 protein, vimentin, GFAP, NSE, and CD57, and negative staining for Ki-67, CD34, Neurofilament protein, cytokeratin, and EMA. The spindle cells showed positive staining for CD34 and vimentin. The clinical and histologic features and immunohistochemical profiles are used to separate this lesion from the closely related, ependymal rests, ependymomas, and primary cutaneous chorodomas.
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2/26. Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9.

    Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary disorder, first reported by Toyama in 1910. It is characterized by a mixture of hypopigmented and hyperpigmented macules of various sizes on the backs of the hands and feet. The disease gene of DSH and its chromosomal localization have not yet been identified. A family with DSH and idiopathic torsion dystonia (ITD), a rare neurological disease, was recently reported. Therefore, we speculated that there was a linkage between the DSH gene and the ITD gene, named DYT1 and localized on chromosome 9, and performed linkage analysis between DSH and microsatellite markers on chromosome 9 in three Japanese DSH families (36 patients in total). We obtained a lod score of < -2 over the whole region of chromosome 9 encompassing DYT1. Thus, we conclude that there is no linkage between DSH and DYT1 as well as any region of chromosome 9.
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3/26. Genital cutaneous crohn disease: two cases with unusual clinical and histopathologic features in young men.

    Cutaneous crohn disease, sometimes called metastatic crohn disease or crohn disease with cutaneous involvement, is a rare complication of crohn disease in which granulomatous lesions involve skin separated from gastrointestinal lesions by normal tissue. We report two cases of cutaneous crohn disease presenting in young males with erythematous, nontender swelling of the scrotum. One of the young males presented erythematous, nontender swelling of the penis as well. In one case, cutaneous crohn disease represented the primary presentation. The original biopsy in this case showed unusual areas of degeneration of dermal connective tissue forming cystic cavities. The diagnostic biopsies in both cases showed sarcoidal granulomas with an associated superficial and deep perivascular mixed infiltrate including eosinophils. On endoscopy, both patients showed lesions of active crohn disease in the colon. Because changes that would suggest cutaneous crohn disease may not be present on the initial biopsy, unusual presentations and negative cultures may warrant a second biopsy. A high index of suspicion and open communication with the clinician are essential to diagnose this disease.
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4/26. Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.

    We report on a patient with a severe premature calvarial synostosis and epidermal hyperplasia. The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. Subsequently, molecular analysis of the FGFR3 receptor gene identified a heterozygous P250R missense mutation in both the proposita and her mildly affected father. This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes.
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5/26. Cutaneous bronchogenic cyst of the abdominal wall.

    We report a case of the unusual location of a cutaneous bronchogenic cyst on the abdominal wall. The patient was a 9-month-old boy who had presented with a 1.5 cm-sized polypoid mass, present since birth. Pathological examination of the excised mass revealed multiple small cystic structures surrounded by the fibroadipose tissue. The lining epithelium consisted of either pseudostratified ciliated columnar epithelium with goblet cells or a single layer of ciliated or non-ciliated cuboidal to columnar cells. The cystic walls contained a well-developed smooth muscle bundle, mucous glands and hyaline cartilage plate. This lesion was adherent to the peritoneum, but there was no direct communication with the abdominal cavity. Cutaneous bronchogenic cyst located in the abdominal wall has not been described in the English literature. The present case suggests a possible origin from a downward migration, from the sequestered bud of a tracheobronchial tree primordium along the midline of the body surface, during embryonic development.
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6/26. subcutaneous emphysema of the abdominal wall from diverticulitis with necrotizing fasciitis.

    The case history of a patient with subcutaneous emphysema of the abdomen from sigmoid diverticulitis is presented. The mechanisms for developing abdominal wall emphysema are reviewed. Thus when the gas originates from the gastrointestinal tract, mechanical factors are mainly responsible for this phenomenon. These inculde a direct communication through a colonocutaneous fistula. Gas may, however, also be spread into the abdominal wall by high intraintestinal pressures. infection with gas-producing organisms may be associated with subcutaneous emphysema. This is particularly true when the emphysema develops 48 h or longer after onset of symptoms. infection, however, is not the major cause for gas in these tissues.
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7/26. psoriasis: odd varieties in the adult.

    Occasionally we observe particular varieties of psoriasis and in rare cases transitional features with other diseases, which pose problems concerning the differential diagnosis and the nosological classification. This communication deals with the following clinical and histological aspects of psoriasis: 1) Sebopsoriasis. Relationship of psoriasis to pityriasis rubra pilaris. 2) erythema annulare centrifugum type of psoriasis. 3) Is subcorneal pustular dermatosis an expression of pustular psoriasis? 4) Salient histopathological criteria for the diagnosis of the different atypical forms of psoriasis. 5) Presentation of an unusal case with striated and retiform verrucous psoriasis-like eruptions, which show a relationship to parakeratosis variegata.
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8/26. A midline cyst containing clear fluid in an infant and review of management.

    A 3-month-old healthy girl had a cyst present from birth, located in the midline, in the area of the anterior fontanel. A magnetic resonance imaging was performed at age 7 months, which did not show communication between the cyst and the central nervous system. At a subsequent examination, while the cyst was being probed, it broke and expressed clear fluid. The cyst was subsequently removed surgically and was found histopathologically to be an epidermal inclusion cyst without communication with the central nervous system. Epidermal inclusion cysts very rarely occur on the midline in the area of the anterior fontanel, and none have been reported to contain clear fluid. Their proper management requires focused clinical assessment, noninvasive imaging, and consideration of surgical removal, in particular, if they communicate with the intracranial space.
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9/26. Graft-vs-host reaction.

    Observations surrounding the clinical manifestations and pathological studies of a neonate who died at 9 weeks of age, indicate that distinctive cutaneous, histopathologic, and ultrastructural findings occur when graft-vs-host reaction (GVHR) complicates combined immune deficiency syndrome (CIDS). The prominence and specificity of the epidermal lesions, particularly a necrotic cell that occurs in association with satellite lymphocytes ("satellite cell necrosis" (SCN)), lead us to recommend that a cutaneous biopsy be performed to facilitate an early definitive diagnosis. Dermatologists can recognize GVHR at the bedside and establish the diagnosis with the pathological findings obtained from the skin biopsy.
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10/26. Peeling ichthyosiform dermatosis.

    In the present communication, 5 patients with peeling of the skin are reported under the newly proposed term. Peeling ichthyosiform dermatosis. The relevant literature is briefly reviewed.
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