Metaboli22.docx

Metabolic Case of lipoid proteinosis, hoarseness of voice treatment Steroid Acitretin 60 years old patient with multiple waxy papules on the trunk and lower limb with ecchymosis and bruises and macroglossia (mostly systemic amyloidosis) what is next? Bone marrow biopsy حاجة اخر Blood PTN fixatio...

Metabolic Case of lipoid proteinosis, hoarseness of voice treatment Steroid Acitretin 60 years old patient with multiple waxy papules on the trunk and lower limb with ecchymosis and bruises and macroglossia (mostly systemic amyloidosis) what is next? Bone marrow biopsy حاجة اخر Blood PTN fixation or detection 3 Fat aspiration Abdominal fat aspiration 1 Blood or urine electrophoresis 2 Treatment of previous condition: Chemo Steroid + Melphalan Anti siRNA. Legius syndrome caused by SPRED1 gene and NF1like but no tumors, freckles, lipoma, macrocephaly, ADHD McCune–Albright by GNAS mutation, Fibrous dysplasia, Café au lait macules, including characteristic jagged "coast of Maine" borders and tendency not to cross the midline, Precocious puberty, Testicular abnormalities, Hyperthyroidism, Growth Hormone Excess, Cushing's Syndrome/ clitoral hypertrophy/scoliosis Case of sever itchy macular hyperpigmentation on the back (macular amyloidosis) investigations: Calcitonin level or thyroid scan Congo red 10 y old child normal with scars on knuckles ask: Urine porphyrin negative blood porphyrine positive Erythropoietic porphyria Congenital erythropoietic porphyria Heridetarycorporphyria Coproporphyria Varigat porphyria Hemochromatosis case (diabetes/joints /bronze) & generalized, hyperpigmentation & hepatomegaly what association? Copper accumulation C282y gene Case of Wilsons disease a. ATP7B gene In patients with clinical features suggestive of Wilson disease (e.g. abnormal liver tests combined with neurologic symptoms), we start by obtaining liver biochemical tests, a complete blood count, serum ceruloplasmin and copper levels, an ocular slit-lamp examination, and a 24-hour urinary copper excretion. Female patient with macular amyloidosis what is next Neurologist Endocrinologist Picture of Juvenile xanthogranuloma next step a. Ophthalmologist. b. Neurologist. Patient 30 years with itching interscapular brownish patch with rippling (amyloidosis) which organ associated Kidney Adrenal Thyroid Pituitary Macular amyloidosis association: a. MEN type 2 A Male patient with erythematous rash and bone pain prober site for bone x ray Arm Leg Spine if skull or cranium not present Langerhans cell histiocytosis. Skull or cranium 1st Genetic defect in litterer Siwe Mutation in BRAF gene Child with erythema and bone pain and Histological finding epithelioid granuloma and few lymphocytes what gene defect (Blau syndrome) Carb 15 TNFR1 ACE Fabry's disease defect (picture): a. GLA galactosidase A. Pt with bilateral nodules on tendon Achilles {tubers xanthoma} What investigation? a. Cholesterol 40 years female with generalized purpuric eruption all over body and sole ulcer (with path pic) MM Ulcerative LP Same question treatment Mohs MTX Cyclosporin Another q what to monitor during treatment answer is creatinine Mastocytosis aggravated drug a. Dextromethorphan Mastocytosis mutation in which axon a. (codon 816) axen 17/C(KIT) Hardness of the upper back of the patients IgG kappa IgG lambda Pt with skin colored papules and elastic skin on neck and angoid streaks on retina what to do? Introduce Aspirin Introduce Simvastatin Stop smoking Biologic. Most common in PXE Peripheral arterial disease 2 if intermittent claudication not present Cardiomyopathy Pulmonary problems Intermittent claudication. 1 child with porphyria treatment a. Phlebotomy Hydroxychloroquine IVIG Picture of hands (bullae, blister, hypertrichosis, milia) (porphyria) what is associated organism HCV patient with cutaneous amyloidosis what association a. Thyroid tumor Renal Adrenal Lung. Picture of 2 cubital fossa in adult, non-itchy, شخصتها انا xanthoma ttt Phototherapy Imiquimod Antibiotic Steroid Skin colored popular lesion in back of female, stain colloidal iron, (scleromyxdema) what next step? Immunofixation Bone marrow biopsy to exclude multiple myeloma. Perforating Disease (histopathology: collagen within a keratin plug or extruding through the epidermis), consistent clinical features (keratotic papules or umbilicated papulonodules), with renal failure, what investigation u will order? Creatinine Leukocyte Liver enzyme. Patient has nodules on olecranon ligament what is the investigation: a. Cholesterol Picture of patient with vesicular eruption on hand arm face by histopathology no inflammatory infiltrate treatment Phlebotomy if PCT Steroid IVIG Case of Hypothesia &hypohydrosis investigations: a. G6PD Chest x ray MRI CBC Mucinosis muco-polysaccharide. Scleromyxdema mutation in keratin a. Lambda b. Kappa Case of macular amyloidosis investigations: Neurological Calcitonin ال يوجد Thyroid c. Case of Langerhans cell histiocytosis investigation needed x-ray on: Arm Spine if skull or cranium not present which is more accurate Leg Cranium or skull Pathological description of angiokeratoma and what enzyme defect a. Galactosidase A An angiokeratoma would show hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis. Picture of urticaria pigmentosa the most affected a. Git (most affected) Lung CNS (Least affected genitourinary then neuroendocrine > CNS Case of (hypertrichosis & vesicles) PCT investigation needed: a. Ferritin CBC MRI جه مرتين disease Wilson Diagnosis والمره التانيه Associated b. Case of child 3 months with vomiting & brown lesions and did x-ray showed osteolytic lesions (LCH) what is the treatment: Methotrexate Cyclosporin Vincristine or vinblasten N.B for symptomatic patients with skin-only LCH oral MTX , 6-mercaptopurine, hydroxyurea , topical corticosteroids, topical nitrogen mustard, oral methotrexate, and oral thalidomide Unifocal or multifocal involvement of one organ or system, single agent prednisone, or combination of vinblastine and prednisone, curettage of bone lesions Case of scleromyxoedema waxy papules in face upper back, what to treat Rituximab Thalidoamide 2 c. IVIG 1 Infant 3 months with low weight and multiple, brown lesions did Xray and found osteolytic lesions ,chondroitin, what is the ttt Methotrexate Cyclosporin Vincristin Case of mastocytosis the least organ affection Heart Lung Git the most frequent +/BM/LN/liver/spleen (the most) CNS + genitourinary Patient complaining from recurrent abdominal pain since childhood Steroid Hydroxychloroquine Dapsone Colchicine if FMF End stage renal with perforating dis best treatment : a. NBUVB Path PUVA Oral PUVA Child 7 years with one skin colored papule in lower eye lid with a photo ask about expected Decrease muscle power increase muscle power seizures Photo of neurofibromatosis and ask about association Xanthogranulom. Case of Wilson what will you expect to find in the epidermis. a. Elastic fiber. Photo of calcinosis cutis in index ask about association Systemic sclerosis SLE Dermatomyositis Limited scleroderma Scenario of pxe ask about association no claudication in choices a. Peripheral vascular disease Case of ulcer in the thigh in end stage renal dis pt ask about treatment Wrafarin Na thiosulfate Fabry's disease (Male has erythematous purple papules in the lower abdomen and inner thigh his brother too what is depsitted or accumulating substances: Ceramide (globotriasylceramid) Mucopolysacaride Glactoaminoglya