Symptoma

Hereditary Multiple Trichodiscomas

No signs of systemic disease were present. [moh-it.pure.elsevier.com]

A unique initial summary page facilitates the reading of each presentation. Recent relevant genetic and biochemical ? ndings in every chapter were particularly helpful to this reader. [books.google.com]

Case Report A 60-year-old male presented with a nasal nodule present for an unknown period of time. An excisional biopsy revealed a 1.2-cm well-circumscribed dermal mass with a white-tan cut surface. Microscopically, the epidermis was normal. [ispub.com]

Although various hypotheses were put forward by the author, it was thought that the diver might have had 'subclinical cysts' already present because of some disease phenomenon, which then became overinflated during decompression. [uthscsa.influuent.utsystem.edu]

  • Pathologist

    Morgan, an effervescent, newly minted pathologist from Florida, who was brimming with energy, curiosity, and zeal and was also spo- ing water skiis and a red Porsche! Bruce R. [books.google.com]

    The pathologist examines the biopsy under a microscope. [dovemed.com]

    Eponym The lesion is named after Sophie Spitz, the pathologist who originally described it in 1948. Spitz S. Melanomas of childhood. Am. J. Pathol.1948;24:591-609. [findzebra.com]

    Because most solitary fibrofolliculomas do not recur after a simple excision al procedure, one should operate on patients with asymptomatic eyelid lesions, after confirm in g the histopathologic diagnosis; the pathologist should be able to differentiate [yumpu.com]

    […] esophageal cancer: report of a case and review of the literature. 30142710 Reviewing the use of imiquimod for molluscum contagiosum. 30142709 Addressing public criticism: a potential HIPAA violation. 30142708 Characteristics and diagnostic performance of pathologists [nlm.life]

  • Physician

    Almost exactly ten years ago, two young physicians joined me at the University of Oklahoma for the study of dermatopathology: Stephen C. [books.google.com]

    Physicians need to have a high index of suspicion when they see patients with the constellation of findings of this underdiagnosed syndrome, especially in patients with unexplained spontaneous pneumothoraces. [uthscsa.influuent.utsystem.edu]

    In families with a history of both kidney cancer and melanoma, physicians should look for germline mutations in MITF and BAP1. Another of these early patients was found to have HPRC. [hematologyandoncology.net]

    […] and non-physician providers within the U.S. [nlm.life]

  • Hodgkin Lymphoma

    lymphoma) laryngeal cancer leiomyoma leiomyosarcoma melanoma, cutaneous oropharyngeal cancer parotid gland cancer prostate cancer rhabdomyoma rhabdomyosarcoma thyroid cancer, medullary uterine tumor (corpus and/or cervix) Non-tumor features lung cysts [familialcancerdatabase.nl]

    lymphoma. 30695976 Acquired progressive kinking of the hair in an elderly woman: a case report. 30695975 Disseminated cutaneous sporotrichosis: an unusual case. 30695974 Desmoplastic intradermal spitz nevi arising within red tattoo ink. 30695973 Dermatologic [nlm.life]

    Presentation includes atopic dermatitis, thrombocytopenia, recurrent bacterial infection, lymphoreticular malignancy with non-Hodgkin's lymphoma being the most common, and increased IgA, D and E. [brainscape.com]

  • Multiple Congenital Anomalies

    congenital anomalies - hypotonia - seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple contracture syndrome, Finnish type Multiple contracture syndrome, Israeli-Bedouin type Multiple cutaneous and uterine leiomyomas [csbg.cnb.csic.es]

  • Ear Deformity

    Theclinical features of each individual lesion in our patientCONGENITAL FIBROFOLLICULOMAS, EAR DEFORMITY AND VSD 333q 1999 British Association of Dermatologists, British Journal of Dermatology, 141, 332334Figure 1. [dokumen.tips]

  • Papule

    We describe a patient with multiple firm, skin-colored papules in which the three types of lesion are documented. No signs of systemic disease were present. [moh-it.pure.elsevier.com]

    He had white to skin-colored facial papules similar in size and distribution to those of his mother. In addition, he had hundreds of small papules scattered widely over the upper aspect of his trunk. [docslide.com.br]

    The lesions clinically appear as multiple, 2 4 mm, white to skin-colored, and dome shaped papules, affecting the face and upper trunk. [synapse.koreamed.org]

  • Erythema

    […] in an HIV-infected patient with Sézary syndrome. 30710902 Koebner phenomenon: pemphigus vulgaris following Mohs micrographic surgery. 30710901 Fibro-osseous pseudotumor on the hyponychium of the great toe. 30710900 Bullous lupus erythematosus with an erythema [nlm.life]

    […] elevatum diutinum Erythema multiforme Erythema nodosum, idiopathic Erythroderma lethal congenital Erythrokeratodermia variabilis et progressiva Erythromelalgia Erythropoietic protoporphyria Erythropoietic uroporphyria associated with myeloid malignancy [rarediseases.info.nih.gov]

    Familial annular erythema--a rare dermatology diagnosis. Preview Pediatric Dermatology; Williams C, Merchant WJ et. al. [allmedx.com]

    […] fibrokeratoma 0/0 Acquired dysfibrinogenemia 0/0 Acquired Fanconi syndrome 0/0 Acquired hypertrichosis lanuginosa 0/0 Acquired ichthyosis 0/0 Acquired immune deficiency syndrome 0/0 Acquired pancytopenia 0/0 Acquired pseudohypoaldosteronism 0/0 Acral erythema [visualdx.com]

  • Angiomatosis

    الصفحة 320 - Bacillary Angiomatosis. The Histopathology and Differential Diagnosis of a Pseudoneoplastic Infection in Patients with Human Immunodeficiency Virus Disease. Am. J. Surg. Pathol., 13: 909-920, 1989. ‏ [books.google.com]

    […] of the breast with adjacent fat necrosis: a case report and review of the literature. 30142738 Diffuse vesiculobullous eruption with systemic findings. 30142737 Generalized retiform purpura as a presenting sign of diffuse dermal angiomatosis. 30142736 [nlm.life]

    […] protuberans Dermatomyositis Dermatoosteolysis Kirghizian type Dermatopathia pigmentosa reticularis Dermatosparaxis Ehlers-Danlos syndrome Dermochondrocorneal dystrophy of François Dermoodontodysplasia Diffuse cutaneous systemic sclerosis Diffuse dermal angiomatosis [rarediseases.info.nih.gov]

    Baldini Ambrosi syndrome * Cantu Sanchez-Corona Fragoso syndrome * Cantu Sanchez-Corona Garcia-cruz syndrome * Cantu Sanchez-Corona Hernandez syndrome * Cantu syndrome * Capillary leak syndrome with monoclonal gammopathy * Capillary venous leptomeningeal angiomatosis [medicalgeek.com]

    Encephalotrigeminal angiomatosis is another name for Sturge-Weber. Von Lohuizen's disease is another name for cutis marmorata telangiectatica congenita. [brainscape.com]

  • Sweating

    These cells are character-ized by factor XIIIa and CD34 positivity and arefound interspersed between collagen bundles of thereticular dermis and around sweat gland coils and fol-licular units. [documents.tips]

    […] and pressure Perivascular infiltration upper Diffuse deep corium Granulomatous processes deeper Connective tissue disorders elastic fibres Vasculitides Panniculitis Deposition foreign material Bacterial mycotic parazitic viruses hair follicles nails sweat [borghesan.com]

    […] metastasis from penile squamous cell carcinoma resembling carcinoma en cuirasse. 25780970 Primary mucocutaneous histoplasmosis in an immunocompetent patient. 25780969 Eccrine chromhidrosis secondary to hyperbilirubinemia. 25780968 A case of generalized red sweating [nlm.life]

    […] or ocular involvement Cockayne syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Coffin-Lowry syndrome Coffin-Siris syndrome COFS syndrome COG1-CDG COG4-CDG COG5-CDG COG7-CDG COG8-CDG Cohen syndrome Cohen-Hayden syndrome Cold-induced sweating [csbg.cnb.csic.es]

  • Shagreen Patch

    patch, gliomas of brain and retina, angiomyolipo- mas, rhabdomyomas Lobules of pale-staining, glycogen- containing cells with peripheral palisading, often arranged about central follicle Hair follicle with epithelial strands and perifoIlicular fibrosis [docslide.com.br]

This issue of Emerging Cancer Therapeutics provides a comprehensive review for practitioners on the current status of renal cancer treatment. [books.google.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

The case was unusual because it was the first where multiple pulmonary cysts were discovered after a successful recompression treatment. [uthscsa.influuent.utsystem.edu]

A distinct type of cutaneous B-cell lymphoma with an intermediate prognosis. Dutch Cutaneous Lymphoma Working Group. Arch Dermatol 1996; 132:1304-1308. ‏ الصفحة 267 - Fletcher V, Sagebiel RW. [books.google.com]

Prognosis This depends on the development of associated conditions, especially renal carcinoma. The tendency for associated malignancy seems variable between families. [patient.info]

Several CF HRCT scoring systems have been developed to monitor the extension of lung damage, compare clinical severity, evaluate the effects of therapeutic interventions, and estimate prognosis. [thoracickey.com]

Spontaneous pneumothorax develops most frequently before age 40 years. [24] Prognosis The prognosis depends on associated internal disease. [emedicine.medscape.com]

The etiology is due to a mutation in the BHD gene, which encodes folliculin (FLCN), located on chromosome 17p. The skin changes observed are benign skin tumors consisting of hamartomas of the hair follicle with dermal changes. [scinapse.io]

This information will facilitate the identification of the BHD gene, leading to the understanding of its underlying molecular etiology. [nature.com]

FLCN protein instability or deletion of a FLCN exon caused reduced protein production, thus supporting the theory of haploinsufficiency and contributing to disease pathogenesis. [52, 53, 54] Etiology The cause is unknown, but Birt-Hogg-Dubé syndrome [emedicine.medscape.com]

26632799 C-MYC positive angiosarcoma of skin and breast following MammoSite treatment. 26632798 Infantile myofibroma: a firm, round plaque in an infant. 26632797 A case of Kaposi sarcoma in an immunocompetent, heterosexual Irish man: a discussion of etiology [nlm.life]

Epidemiology Spitz nevi are uncommon. Their annual incidence was estimated in a coastal population of sub-tropical Queensland to be 1.4 cases per 100,000 people. [findzebra.com]

An autosomal dominant inheritance pattern has been identified. [ 4 ] Epidemiology The actual incidence is unknown, but it is likely to be underdiagnosed. [ 5 ] Presentation Onset tends to be in adulthood with skin lesions: [ 2 ] These develop in the 20s [patient.info]

Recent studies have varied in conclusions and a large epidemiological study from 2002 found no association between colon cancer and BHD syndrome[7]. [ghrnet.org]

Epidemiology Frequency Birt-Hogg-Dubé syndrome is uncommon in the United States. Several families have been reported since Birt, Hogg, and Dubé described the original kindred in 1977. [emedicine.medscape.com]

29447629 Wilderness dermatology: mountain exposures. 29447628 Sexual side effects of 5-α-reductase inhibitors finasteride and dutasteride: A comprehensive review. 29447627 Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology [nlm.life]

To gain a deeper understanding of the pathophysiology of AD, we conducted a large-scale transcriptomic study of AD with deeply-sequenced RNA-seq samples using long (126) paired-end reads. [allmedx.com]

[…] bronchiolitis ( ) Air-fluid levels (mucus, pus, or blood) Inflammatory consolidations Non-parenchymal Signs Enlarged mediastinal lymph nodes Dilated and dysmorphic appearance of the trachea (tracheomegaly) and the main bronchi in cases of Mounier–Kuhn syndrome Pathophysiology [thoracickey.com]

We describe a case of EV in a patient with LP and discuss the pathophysiology... [read.qxmd.com]

Pathophysiology Birt-Hogg-Dubé syndrome is caused by a mutation in the folliculin ( FLCN ) gene that has been mapped to the short arm of chromosome 17, specifically 17p11.2. [23, 20] Since its discovery, over 100 unique mutations in FLCN, caused by insertion [emedicine.medscape.com]

Spontaneous pneumothorax can be the first manifestation of this hereditary condition, and prevention in patients diagnosed with the syndrome is aimed at early diagnosis and treatment of the renal cell carcinoma. [uthscsa.influuent.utsystem.edu]

Prevention Encourage patients to stop smoking because of the additive risk factor for lung disease and renal carcinoma. [patient.info]