Noch 2197 Tage!
Statistische Auswertung
ZURÜCK
Morbus Weil (#R: 6; #F: 9)
Spätphase einer Leptospirose

Systemischer Verlauf mit Organbefall
- Leber: Hepatitis mit Transaminasenerhöhung und Ikterus
- Nieren: Nephritis und akutes Nierenversagen
- ZNS: Lymphozytäre Meningoenzephalitis
Melkersson-Rosenthal-Syndrom (#R: 8; #F: 6)
granulomatöse Erkrankung

Symptomtrias
- Lingua plicata (Faltenzunge)
- Cheilitis granulomatosa (Ober- oder Unterlippenschwellung)
- rezidivierende periphere Fazialislähmung.
Caplan-Syndrom (#R: 10; #F: 5)
Silikose + rheumatoider Arthritis
Cowden-Syndrom (#R: 9; #F: 5)
• Papeln und Hyperkeratosen der Haut und Schleimhäute
• Multiple gastrointestinale Polypen und Adenome
• Veränderungen im Bereich der Schild- und Brustdrüse
• Erhöhtes Risiko an einem kolorektalen Karzinom zu erkranken
• Autosomal-dominant vererbt
Muir-Torre-Syndrom (#R: 6; #F: 5)
Veranlagung zu bestimmten Hauttumoren meistens bei MSH2-Mutation
Talgdrüsenadenome
Keratoakanthome
Mikulicz-Syndrom (#R: 5; #F: 4)
Schwellung der Tränen- und Mundspeicheldrüse

- Schmerzlos
- Paraneoplastisch
Pierre-Marie-Bamberger-Syndrom (#R: 7; #F: 3)
Hypertrophe pulmonale Osteoarthropathie
• Meist Folge der chronischen Hypoxie (→ bei allen chronischen Lungenerkrankungen möglich )
• Schwellung und Schmerzen von Diaphysen der Extremitäten
• Uhrglasnägel und Trommelschlegelfinger
Dubin-Johnson-Sprinz-Syndrom (#R: 7; #F: 3)
Störung der Bilirubinausscheidung der Leber

- Fehlfunktion des MRP-2-Transporters.
- Autosomal rezessiv
Shy-Drager-Syndrom (#R: 6; #F: 3)
Multisystematrophie (MSA)
- vorrangig parkinsonoider Symptomatik (MSA-P)
- Dysarthrie
- Tremor.
Klüver-Bucy-Syndrom (#R: 8; #F: 3)
Bei z.n. bilateraler Temporallappenschädigung
- Affektion des limbischen Systems
- Starke orale Tendenzen (alles wird in den Mund genommen)
- Angstverlust
- Hypersexualität

Ätiologie
- Enzephalitiden
- chronische Degeneration
- Traumen
adultes Still-Syndrom (#R: 3; #F: 3)
o Intermittierende hohe Fieberschübe
o Flüchtiges kleinfleckiges, makulopapulöses Exanthem
 Befällt proximale Extremitäten und Rumpf
 Auftreten häufig nur während des abendlichen Fieberschubs
o Weitere Symptome: Symmetrische Polyarthritis, Splenomegalie, Polyserositis (Pleura und Perikard)
• Labor
o Rheumafaktoren, Antinukleäre Antikörper und Anti-CCP-Antikörper: alle negativ!
Ferritin↑↑, BSG↑, CRP↑, Leukozytose
Morbus Bannwarth (#R: 5; #F: 3)
Lyme-Borreliose

- fakultativ intrazelluläre Borrelien
Brenneman-Syndrom (#R: 0; #F: 3)
Auftreten von diffusen Bauchschmerzen (Pseudoappendizitis) während einer Atemwegsinfektion (bspw. Tonsillitis)

- Kindesalter.
M. Krabbe (#R: 4; #F: 2)
Globoidzell-Leukodystrophie (Morbus Krabbe)

- genetische Erkrankung (Mutation auf Chromosom 14)
- Zerfall der weißen Substanz des Gehirns
- fortschreitende Bewegungsstörungen
- dementielle Entwicklung
- nur wenige Kinder werden älter als einige Jahre.
Kikuchi-Fujimoto-Erkrankung (#R: 7; #F: 2)
Nekrotisierende Lymphadenitis.
• Klinik: Zervikal betonte, schmerzhafte Lymphknotenschwellung mit Allgemeinsymptomatik und Fieber
Sheehan-Syndrom (#R: 4; #F: 2)
postpartaler Hypopituitarismus Ischämische Hypophysennekrose bei starkem peripartalem Blutverlust
Gorlin-Syndrom (#R: 6; #F: 2)
MEN 2b
• Medulläres Schilddrüsenkarzinom (100%)
• Phäochromozytom (ca. 50%)
• Ganglioneuromatose (fast 100%)
• Marfanoider Habitus (>95%)
Felty-Syndrom (#R: 2; #F: 2)
- schwere rheumatoide Arthritis
- seropositiv
- Splenomegalie
- Granulozytopenie

Zahlreiche weitere Symptome möglich
o Vaskulitis, die insbesondere durch Hautulzera der unteren Extremität symptomatisch wird
o Hepatomegalie
o Pleuritis, Perikarditis
o Infektionen aufgrund eines reduzierten Immunstatus
Morbus Forestier (#R: 7; #F: 2)
Diffuse idiopathische Skeletthyperostose, Spondylosis hyperostotica)
• Definition: Degenerative Erkrankung hauptsächlich der BWS und LWS
• Epidemiologie
o Keine HLA-B 27-Assoziation
o Häufig bei Diabetikern
Klinik: Bewegungseinschränkung, oftmals nicht oder nur gering schmerzhaft
Achylia gastrica (#R: -1; #F: 2)
Zu einer Achylia gastrica kann es z.B. im Rahmen einer Autoimmungastritis mit Atrophie des Säure-bildenden Drüsenkörpers kommen. Aufgrund des daraus resultierende Mangels an Magensäure kann aber selbst bei einer Blutung kein Hämatin entstehen, da das Hämoglobin nicht in Kontakt mit Säure kommt.
Pyoderma gangraenosum (#R: 4; #F: 1)
schmerzhafte Pusteln mit zentraler Nekrose im Rahmen eines Morbus Crohnbevorzugt an der unteren Extremität auftritt und sehr lange zur Abheilung benötigt.
Dermatitis herpetiformis Duhring (#R: 4; #F: 1)
• Erythem, Plaques, Bläschen
• Bei atypischer Zöliakie
Lynch-Syndrom (#R: 6; #F: 1)
Hereditäre nicht polypose Kolonkarzinom

- deutlich erhöhtes Risiko, in mittleren Jahren (45 Jahre) an einem kolorektalen Karzinom zu erkranken.
- erhöhte Wahrscheinlichkeit, an HNPCC assoziierten Karzinomen wie Endometrium-, Ovarial- oder Magenkarzinomen zu erkranken.
Hedinger-Syndrom (#R: 8; #F: 1)
Rechtskardial betonte Endokardfibrosierung
- Trikuspidalinsuffizienz
- Pulmonalstenose

- Bei neuroendokrinen Tumoren
Debré-de-Toni-Fanconi-Syndrom (#R: 4; #F: 1)
Angeborene oder erworbene unspezifische Tubulopathie des proximalen Tubulus

- Wasserverlust
- gestörte Rückresorption von Aminosäuren, Elektrolyten und Glukose
- Polydipsie
- Polyurie
- Azidose
- Hypokaliämie
- Vitamin-D-resistente Rachitis (im Kindesalter, durch den Phosphatverlust)
Sipple-Syndrom (#R: 4; #F: 1)
MEN 2a
• Medulläres Schilddrüsenkarzinom (100%)
• Phäochromozytom (ca. 50%)
Primärer Hyperparathyreoidismus (ca. 20-30%)
SAPHO-Syndrom (#R: 4; #F: 1)
seltene Systemerkrankung aus dem rheumatischen Formenkreis

- Synovitis
- Akne
- Pustulosis
- Hyperostose
- Osteitis.
Beckwith-Wiedemann-Syndrom (EMG-Syndrom) (#R: 5; #F: 1)
- Omphalozele
- Hemihypertrophie
- relative Mikrozephalie
- Makroglossie
- auffällige Ohrform
- Hypoglykämien.
Polymyalgia rheumatica (#R: 0; #F: 1)
- symmetrische Schmerzen + Morgensteifigkeit des Schulter- und Beckengürtels
- Fieber
- Gewichtsverlust
- depressive Verstimmung

- stark erhöhte BSG
- CRP-Erhöhung
- Leukozytose + Anämie
- normwertige CK

- ältere Frauen

DD Polymyositis (hohe CK!)
Dermatomyositis (#R: 0; #F: 1)
Die Dermatomyositis gehört zur Gruppe der Kollagenosen. Hierbei zeigen sich entzündliche Veränderungen an Schulter- und Beckenmuskulatur mit begleitender Muskelschwäche und Schmerzen, sowie erythematöse lilafarbene Hauterscheinungen ("Lila-Krankheit"). In der laborchemischen Untersuchung würde man als Leitbefund eine deutliche Erhöhung der Kreatinkinase (CK) erwarten - eine normwertige CK spricht für eine andere Diagnose. Insbesondere bei älteren Patienten kann die Dermatomyositis Ausdruck eines paraneoplastischen Syndroms sein.
Fibromyalgie-Syndrom (#R: 0; #F: 1)
Chronisches Schmerzsyndrom

- schmerzhafte Druckpunkte ("tender points")
- vegetative Symptome
- funktionelle Beschwerden

- häufig Frauen

- keine Laborveränderungen!
Morbus Osgood-Schlatter (#R: 0; #F: 1)
Aseptische Knochennekrose

- Tuberositas tibiae (extraartikulär!)
- Alter: 9-13
- ♂>♀ (10:1)
- Sportler
- Gute Prognose bei konservativer Therapie
Morbus Ahlbäck (#R: 0; #F: 1)
Aseptische Knochennekrose

- mediale Femurkondyle
- Alter: 60-70
- meist ältere, weibliche Patienten
Morbus Panner (#R: 1; #F: 1)
Aspetische Knochennekrose

- Capitulum humeri
- Alter: 6-10
- Gute Prognose bei konservativer Therapie
β-Thalassaemia (#R: 0; #F: 1)
Adultes Hämoglobin (HbA) besteht aus 2 α- und 2 β-Globinketten. Bei der β-Thalassämie liegt eine ineffektive Erythropoese mit Störung der β-Globinkettensynthese vor. Die Folge ist eine reaktiv gesteigert Produktion von γ- und δ-Globinketten. Dabei wird vermehrt fetales Hämoglobin (HbF) gebildet, was aus 2 α- und 2 γ-Globinketten besteht.
paroxysmale nächtliche Hämoglobinurie (#R: 0; #F: 1)
Die Ursache hier ist eine Genmutation auf dem X-Chromosom, die zu einer monoklonalen Störung der hämatopoetischen Stammzellen führt. Diese Störung wiederum kann in ein myelodysplastischen Syndrom oder eine aplastische Anämie übergehen. Die Erkrankung an sich mündet in einer massiven Hämolyse, bei der Hämoglobin freigesetzt wird. Freies Hämoglobin bindet den Vasodilatator und Thrombozytenhemmer Stickstoffmonoxid (NO). Weiterhin führen die Erythrozytenfragmente (genauer gesagt der Kontakt zur inneren Membran) zu einer Aktivierung der Thrombozyten mit der Folge einer deutlich erhöhten Thromboseneigung.
M. Werlhof (#R: 1; #F: 1)
idiopathischer thrombozytopenischer Purpura
aplastische Anämie (#R: 0; #F: 1)
Die Ursache einer aplastischen Anämie ist eine Insuffizienz des Knochenmarks unterschiedlicher Genese. Das insuffiziente Knochenmark führt zu einer Panzytopenie, die eine erhöhte Infektanfälligkeit und Blutungsneigung sowie eine Anämie bedingt.
frühkindliche Oligoarthritis (#R: 0; #F: 1)
In etwa 50% der Fälle tritt die (frühkindliche) Oligoarthritis gemeinsam mit einer chronischen Iridozyklitis (=Uveitis anterior) auf, die häufig zunächst symptomarm beginnt.
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Naevus spilus (#R: 8; #F: 0)
gutartiger Hautbefund, der kongenital als Café-au-lait-Fleckimponiert. Im Verlauf entsteht dann eine kleinfleckige Sprenkelung mit Pigmentflecken.
Chilaiditi-Syndroms (#R: 9; #F: 0)
Verlagerung der Flexura coli dextra nach kranial zwischen Zwerchfell und Leber.

- nicht zwingend Krankheitswert
- häufig als Zufallsbefund
- erhöhte Gefahr eines Darmverschlusses
Peutz-Jeghers-Syndrom (#R: 7; #F: 0)
gastrointestinale Polypose

- charakteristische Pigmentflecken an Haut und Schleimhäuten.
- Zu 50% autosomal-dominante Vererbung
- Zu 50% Neumutation
Buschke-Löwenstein-Tumor (#R: 0; #F: 0)
Das Riesenkondylom wird auch als Buschke-Löwenstein-Tumor bezeichnet. Dieses stark exophytisch wachsende, verruköse Plattenepithelkarzinom mit lokaler Ausbreitung ohne Metastasierungstendenz wird hauptsächlich durch HPV 6 und 11 ausgelöst.
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Rotor-Manahan-Florentin-Syndrom (#R: 3; #F: 0)
Gestörte Sekretion von bereits konjugiertem (direktem) Bilirubin in die Gallekanälchen

- Defekter MRP-2-Transporter der Hepatozyten
- Autosomal rezessiv
Chorea Sydenham (#R: 5; #F: 0)
Symptom des rheumatischen Fieber und gehört zu den hyperkinetischen, extrapyramidalmotorischen Bewegungsstörungen. Diese gehen mit plötzlich einschießenden, unwillkürlichen Bewegungen einher, sind allerdings meist nur einseitig betont (Hemichorea). Das rheumatische Fieber ist Folge einer Infektion mit ß-hämolysierenden Streptokokken der Gruppe A.
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Sézary-Syndrom (#R: 10; #F: 0)
Kutanes T-Zell-Lymphom mit leukämischer Aussaat der veränderten T-Zellen

Typische Symptomtrias
- Generalisierter Hautbefall
- - Erythrodermie mit palmarer und plantarer Hyperkeratose
- - Starker Juckreiz
- Generalisierte Lymphknotenschwellung
- Atypische T-Zellen (Sézary-Zellen)
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Eisenharte Struma
Sonderform der Autoimmunthyreoiditis
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Invasiv-fibrosierendes Wachstum mit Destruktion des Schilddrüsengewebes
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Wermer-Syndrom (#R: 9; #F: 0)
MEN 1
• Primärer Hyperparathyreoidismus (in ca. 95%)
• Endokrine Pankreastumoren wie Gastrinom, Insulinom (ca. 50-80%)
Hypophysenadenom (ca. 30-50%)
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Plummer-Vinson-Syndrom (#R: 11; #F: -1)
- Atrophie der Mundschleimhaut
- brennende Glossitis
- chronischer Eisenmangelanämie
Zieve-Syndrom (#R: 10; #F: -1)
Komplikation eines langjährigen gesteigerten Alkoholkonsums.

- Ikterus
- hämolytische Anämie
- Hyperlipidämie
Schwartz-Bartter-Syndrom (#R: 10; #F: -1)
Sekundäre Nebennierenrindeninsuffizienz mit SIADH
- inadäquaten ADH-Sekretion

- Hyponatriämie < 110 mmol/L
- Appetitlosigkeit, Übelkeit, Kopfschmerzen
- zunehmender Reizbarkeit + neurologische Symptomen einhergeht

- langsame vollständige Ausfall der Axillar- und Schambehaarung
Byssinose (#R: 6; #F: -1)
Baumwollfieber; gefährdet sind Arbeiter der Textilindustrie
Exposition gegenüber Rohbaumwolle, Rohflachs und Rohhanf
Übergang in chronisches obstruktives Krankheitsbild möglich
Lambert-Eaton-Syndrom (#R: 4; #F: -1)
Antikörper gegen präsynaptische Kalziumkanäle
- Häufig paraneoplastische Erscheinung bei kleinzelligem Bronchialkarzinom (66%)

- rumpfnahe und beinbetonte Muskelschwäche
- Probleme beim Treppensteigen
- vegetative Symptome (Mundtrockenheit, Obstipation, orthostatische Dysregulation)
- Bei Anstrengung nimmt Muskelkraft wieder zu

EMG
- Initiales Dekrement
- Nachfolgende Zunahme der Aktionspotentialamplituden
Morbus Gilbert-Meulengracht (#R: 7; #F: -1)
harmloses Syndrom, welches sich aufgrund einer Erhöhung des indirekten Bilirubins mit einem rezidivierenden Ikterus zeigt.
Mallory-Weiss-Syndrom (#R: 10; #F: -1)
Einrisse der Schleimhaut am gastroösophagealen Übergang

- Erbrechen bei vorgeschädigter Schleimhaut ausgelöst
- häufig im Rahmen eines Alkoholismus

- epigastrische Schmerzen
- Hämatemesis
Boerhaave-Syndrom (#R: 9; #F: -1)
Ruptur aller Wandschichten des Ösophagus

- mit Alkoholismus assoziiert
- >90% im distalen Drittel des Ösophagus links dorsolateral

- retrosternaler Vernichtungsschmerz
- nach massivem Erbrechen
- Mediastinalemphysem
Morbus Ménétrier (#R: 10; #F: -1)
• Definition: Gastritis mit starker Vergrößerung der Schleimhautfalten
• Histologie: Foveoläre Hyperplasie
• Mögliche Folgen: Diarrhö, Proteinverlust (→ Ödeme), maligne Entartung
• Therapie: Bei Nachweis von HP → Eradikation, sonst symptomatisch und regelmäßige gastroskopische Kontrollen
Mirizzi-Syndrom (#R: 8; #F: -1)
Verschlussikterus

- Ductus hepaticus communis durch ein Konkrement im Ductus cysticus bzw. Gallenblasenhals komprimiert

-> offen-operative Cholezystektomie zur Wiederherstellung der Abflussverhältnisse
Morbus Gilbert Morbus Meulengracht (#R: 7; #F: -1)
Häufigstes hereditäres Hyperbilirubinämie-Syndrom. Gering verminderte Aktivität des Enzyms UDP-Glucuronyltransferase
Hereditäre Erkrankung. Evtl. Ikterus, variable Ausprägung (meist nur milder Sklerenikterus, aber auch generalisierter Ikterus möglich)
Crigler-Najjar-Syndrom (#R: 6; #F: -1)
angeborene Stoffwechselstörung des Bilirubins

- UDP-Glucuronyltransferase in ihrer Aktivität stark vermindert
- klinisch relevante Hyperbilirubinämien

Typ 1

Typ 2
Wallenberg-Syndrom (#R: 9; #F: -1)
Hirnstamminfarkt im Bereich der dorsolateralen Medulla oblongata
- häufig PICA betroffen

- Dysarthrie (Sprechstörung)
- Hornersyndrom (ipsilateral)
- Hemiataxie (ipsilateral)
- dissoziierte Empfindungsstörung (contralateral)
- Gaumensegelparese
M. Wilson (#R: 2; #F: -1)
Beim Morbus Wilson handelt es sich um autosomal-rezessiv vererbte Störung des Kupferstoffwechsels mit Kupferablagerungen in verschiedenen Organen, wie insbesondere den Augen, der Leber und des ZNS. Das Leitsymptom ist der Kayser-Fleischer-Kornealring der Iris. Im Verlauf kommt es zu hepatischen Symptomen (evtl. Zeichen einer Hepatitis oder Leberzirrhose), choreatischen Bewegungsmustern und Demenz. Eine Leberbiopsie zur Diagnosestellung ist derzeit der Goldstandard.
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