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1,022 Possible Causes for Hypertrichosis of Eyebrows, Mutation in the MLL Gene, Occult Malignancy

  • Wiedemann-Steiner Syndrome

    Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[]

    Missing: Occult Malignancy
  • Small-Cell Carcinoma of the Lung

    Small cell carcinoma is a highly malignant neoplasm with often extrathoracic metastases at the time of diagnosis, and a very low 5-years survival.[] […] amplification seen in FGFR1, MYCL, E2F2, and CCN2 genes Gene mutation seen in CREBBP, EP300, MLL, PTEN, SLIT2, and EPHA7 genes And gene inactivation seen in TP53 and RB1[] […] pleural or pericardial effusion M1b Distant metastasis Stage grouping Occult carcinoma TX N0 M0 Stage 0 Tis N0 M0 Stage IA T1a,b N0 M0 Stage IB T2a N0 M0 Stage IIA T2b N0[]

    Missing: Hypertrichosis of Eyebrows
  • Renal Cell Carcinoma

    We describe a unique case of subcutaneous metastasis of sarcomatoid renal cell carcinoma which was the first manifestation of the occult malignancy.[] Manual pathway analysis identified candidate driver mutations in known cancer-associated genes, such as PTEN , NRAS , KRAS , TP53 , TSC2 , and those in the MLL and ARID families[] In cases where the oral lesion represents the initial presentation of an occult primary malignancy, additional workup including full body imaging is recommended to determine[]

    Missing: Hypertrichosis of Eyebrows
  • Hodgkin Lymphoma

    gene.[] […] agents show deletion 5q/monosomy 5 and deletion 7q/monosomy 7; in contrast, those who were treated with topoisomerase II inhibitors show 11q23 translocations involving the MLL[] At the molecular level, there are two types of mutations: Class I, which alter the RAS-BRAF signal transduction pathways and increase cell proliferation; Class II, which disrupt[]

    Missing: Hypertrichosis of Eyebrows
  • Acquired Hypertrichosis Lanuginosa

    malignancy.[] Hypertrichosis cubiti (hairy elbow syndrome) - AD 2. Hypertrichosis of the auricle - AD, YL 3. Hypertrichosis of the eyebrows - ? 4.[] Acquired hypertrichosis lanuginosa (AHL) is a rare cutaneous disorder that involves spontaneous growth of lanugo-type hair in association with overt or occult malignant neoplasms[]

    Missing: Mutation in the MLL Gene
  • Non-Hodgkin Lymphoma

    Homepage Rare diseases Search Search for a rare disease Non-Hodgkin lymphoma Disease definition Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system. ORPHA:547 Synonym(s): NHL Prevalence: 1-5 / 10 000 Inheritance: - Age of onset: Adult ICD-10: - OMIM: 605027[…][]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Adenocarcinoma of the Breast

    Adenocarcinoma of the breast is a term encompassing several types of tumors such as ductal and lobular carcinomas. An asymptomatic painless mass is usually the only symptom in the early stages, whereas an array of constitutional and localized symptoms may be seen in more advanced disease. Mammography and other[…][]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Adenocarcinoma of the Prostate

    Abstract High Gleason score 8 to 10 adenocarcinoma is the most aggressive and potentially lethal form of prostate cancer. The 2005 International Society of Urological Pathology (ISUP)-modified Gleason grading scheme defines several gland arrangements of high Gleason grade patterns 4 and 5. The aim of this[…][]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Bronchogenic Carcinoma

    […] metastases from lung cancer may present clinically or as a finding at autopsy. [3] Clinically they present with symptoms of colonic obstruction, lower gastrointestinal bleed (occult[] […] the appearance of pan colitis in this case could be from the extensive tumour involvement of colonic mucosa and excessive proliferative activity of a poorly differentiated malignancy[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Bone Metastasis

    The most frequent malignant lesion involving the hyoid bone metastasized from the larynx, followed by the vallecula and pyriform sinus.[] The malignant phenotype is the culmination of a series of genetic changes in the primary tumor and its metastases through which investigation of the activation, regulation[] The authors report a unique case of occult prostate cancer that presented with an anterior midline neck mass diagnosed as a thyroglossal duct cyst.[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene