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Cutaneous Manifestations of Systemic Disease

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Cutaneous Manifestations of Systemic Disease Cutaneous Manifestations of Systemic Disease Beaumont Health – Botsford Hospital Dermatology Alexander Dane DO, Ivy DeRosa DO, Megan Furniss DO, Summer Moon DO, Bryan Gray DO, Nichelle Arnold DO Program Director: Annette LaCasse, DO • Acrodermatitis enteropathica • Livedo reticularis Acrodynia Lupus erythematosus • Variegate porphyria Acute febrile neutrophilic dermatosis Lyme disease Vasculitis Amyloidosis Majeed syndrome Angioedema Marfan syndrome Waldenström macroglobulinaema Annular erythema Mastocytosis Wegener granulomatosis Antiphospholipid syndrome McCune-Albright syndrome Wells syndrome Argyria Menopause Whipple disease Autoinflammatory syndromes Metabolic syndrome Wilson disease Behçet disease Mevalonic aciduria Xanthomas Biotin-responsive dermatoses Monogenic autoinflammatory syndromes Xeroderma pigmentosum Blau syndrome Morphoea Bloom syndrome Mucinoses Bowel bypass syndrome Muckle-Wells syndrome Calciphylaxis Myxoma syndrome Carotenaemia Necrobiosis lipoidica Wow! Chilblains Necrolytic migratory erythema Chloracne Neurotic excoriations Churg Strauss syndrome NOMID That’s CINCA Orofacial Crohn disease Compulsive skin picking Orofacialdigital syndrome type 1 Congenital adrenal hyperplasia Orofacial manifestations of inflammatory bowel disease sure a lot Congenital erythropoeitic porphyria Panniculitis Connective tissue diseases PAPA syndrome Costello syndrome Periodic fever syndromes of Crohn disease PFAPA syndrome Cryoglobulinaemia • Photosensitivity diseases! Cushing syndrome POEMS syndrome Cutaneous markers of malignancy Polyarteritis nodosa Cryopyrin-associated periodic syndromes Polymorphous eruption of pregnancy Degos disease Porphyria cutanea tarda Dermatitis herpetiformis Pretibial myxoedema Dermatomyositis Prolidase deficiency Diabetes Prurigo nodularis Diabetic foot ulcers Proteus syndrome Down syndrome Pruritus Drug eruptions Pseudoxanthoma elasticum Dysmorphophobia Pyoderma gangrenosum Ehler Danlos syndrome Pyodermatitis-Pyostomatitis vegetans B. Gray Eosinophilic fasciitis Reiter syndrome Erythema multiforme Reticular erythematous mucinosis Erythema nodosum Rheumatoid arthritis Erythropoeitic protoporphyria Rothmund-Thomson syndrome Familial cold autoinflammatory syndrome SAPHO syndrome Familial Mediterranean fever Sarcoidosis • Flushing Schnitzler syndrome Focal dermal hypoplasia Scleroderma (localised) Genital Crohn disease Scleredema Glucagonoma Scleromyxoedema Goltz syndrome Scurvy Gorlin syndrome Sézary syndrome Gout Sjögren syndrome Graft versus host disease Skin cancer in transplant recipients Cutaneous Manifestations of Systemic Disease • Internal Malignancies • Cardiovascular • Pulmonary • Rheumatic • Gastrointestinal • Renal • Metabolic/Endocrine Internal Malignancies 1 2 3 3 4 4 Metastatic Carcinoma • Direct extensions or distant metastasis via lymphatic or hematogenous dissemination • The most frequent primary tumors are carcinomas of the breasts, stomach, lungs, uterus, kidneys, ovaries, colon, or bladder. • Approximately 1.0% to 4.5% of internal cancers metastasize to the skin. • Metastases from the breast, lung, and genitourinary system have a propensity for the scalp • GI tract cancers often manifest on the skin of the abdominal wall. 2 1 3 Acanthosis Nigricans • Acanthosis nigricans has various subtypes relating to cause and/or location: obesity-associated, syndromic, acral, unilateral, familial, drug- induced, and malignant. • Three common types: AN with maligancy, familial, insulin-resistant states/syndromes • Assoc. conditions include: obesity, diabetes, polycystic ovarian syndrome (PCOS), Cushing syndrome, HAIR-AN, Atypical (palmar or mucosal) distributions or acute onset acanthosis nigricans may also be associated with malignancy (usually gastrointestinal adenocarcinoma). • Tripe palms: (Lung CA); Tripe palms + AN: (Gastric CA) • Associated drugs: Niacin, insulin, folate, estrogens, protease inhibitors 1 2 Extramammary Paget’s (EMPD) • Approximately a quarter of cases are associated with an underlying neoplasm, usually adnexal apocrine carcinoma, but cases of carcinoma of the prostate, urethra, cervix, vagina, endometrium, bladder, and Bartholin's glands have been described. • Perianal disease is more frequently associated with an underlying carcinoma of the rectum. • In vulvar EMPD 4–17% have an associated adnexal neoplasm, and some have a distant carcinoma of the breast, cervix, vagina, bladder, colon, rectum, ovary, liver, gallbladder, or skin. • In perianal EMPD an underlying adnexal carcinoma occurs in 7–10% of cases, and a distant carcinoma of the rectum, stomach, breast, or ureter in 15–45%. • In penile/scrotal EMPD has an associated carcinoma of the prostate, bladder, testicles, ureter, or kidney in 11% of cases. 1 2 Primary Systemic Amyloidosis (PSA) • Multiple myeloma is the most common association, but it is also seen with Waldenstrom macroglobulinemia and other paraproteinemias. • Neurologic symptoms include a sensory peripheral neuropathy, presenting in a stocking and glove distribution. An "idiopathic" carpal tunnel syndrome can also occur. • Cardiac arrhythmias and right sided congestive heart failure are common causes of death • The diagnosis is confirmed by evaluation of the patient’s serum and urine for immunoglobulin fragments and by amyloid stains or electron microscopy of the skin biopsies Cardiovascular 1 2 Leopard Syndrome • Multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, sensorineural Deafness • AD; PTPN11 gene mutation leads to abnormal RAS/MAPK activation • Most common cardiac abnormality is hypertrophic cardiomyopathy – Important to identify early as HOCM is most common cause of sudden cardiac death in young persons 8/21/2015 VisualDx - Image Zoom - Child Rash: Carney Complex 1 2 http://www.visualdx.com/visualdx/visualdx6/getZoomImage.do?moduleId=10&diagnosisId=50724&imageIndex=1 1/1 3 Carney Complex • Multiple neoplasia syndrome including skin findings (lentigines, blue nevi, café-au-lait spots, cutaneous fibromas/myxomas), endocrine overactivity/tumors (primary pigmented nodular adrenal hyperplasia), and visceral myxomas (cardiac) • AD; PRKAR1A gene causes dysfunction of regulatory subunit of Protein Kinase A • 80% of patients with atrial myxoma will present with co-existant or preceding cutaneous myxoma • Early echocardiogram recommended to detect valvular obstruction and prevent stroke 1 1 2 Pseudoxanthoma Elasticum • Hereditary disorder marked by abnormal calcification of elastic fibers. Findings include “plucked chicken” skin at flexural sites, retinal (angioid streaks), GI (gastric artery aneurysm), and CV (HTN, accelerated CAD, MVP) manifestations. • AR; mutation in ABCC6 gene • Typically skin changes precede all others • Important to control/eliminate cardiac risk factors 1 2 Marfan’s Syndrome • AD: Caused by mutation in fibrillin-1, a component of extracellular matrices causing characteristic body habitus, hyperextensible joints, skeletal abnormalities, upward lens dislocation, and aortic aneurysm • Skin findings include distensible skin, striae densa, and elastosis perforans serpiginosa • Most commonly affected with MVP and aortic root dilation: at risk for AR, dissection, and rupture. Pulmonary 1 1 2 Sarcoidosis • Multi-organ granulomatous disease attributed to overactivity of cell mediated immunity • Eitiology proposed to be autoimmune, environmental vs infectious • Up to 1/3 of patients with systemic sarcoid will have skin lesions; typical lesions are red to brown papules and plaques on lips, nose, neck, upper trunk and extremities. • 90% of patients WILL have lung involvement. Sarcoidosis • Aveolitis and granulomatous infiltration of vessels, bronchioles. • Hilar lymphadenopathy is commonly present though often asymptomatic • End stage results in honeycombing fibrosis 3 Sarcoidosis • Diagnosis is made with clinical and histological findings • Chest X-ray recommended to allow for baseline and follow up • High resolution CT scans differentiate fibrosis from inflammation • Pulmonary function tests are helpful if patient becomes symptomatic 1 Yellow Nail Syndrome • Pathogensis unknown, rare • Triad includes lymphedema, nail changes and respiratory tract involvement • Nails become hyperkeratotic, color from 2 pale to dark yellow to green Yellow Nail Syndrome • Condition is associated • Any patient you suspect with chronic bronchitis, needs Chest Xray and ENT pleural effusions, eval bronchiectasis, sinusitis • TX: Treat the underlying • Often involves all 20 nails disease! (Also Vit E and • Lunulae may be absent, antifungals are helpful) inc longitudinal and transverse curvature 1 Erythema Gyratum Repens • Figurate erythema with “Rings with in rings” pattern • Migrates up to a 1 cm/day • Lesions are typically itchy and scaly • Possible cross reactivity between tumor and cutaneous antigens Erythema Gyratum Repens • **Paraneoplastic** • Most commonly associated with lung cancer • May occur 1 year before or following diagnosis. • Thorough workup with chest Xray/CT scans are warranted! • Tx underlying neoplasm 1 1 1 2 2 Acrokeratosis Paraneoplastica • ‘Bazex Syndrome’ • Nails most commonly present first. Brittle, hyper- keratotic and deform nail plate. • Also noted are erythematous papules and plaques on acral areas, nose or helices of ears 2 • **Paraneoplastic** phenomenon most commonly for upper aerodigestive tract cancers, commonly squamous cell cancer. • Detailed workup for neoplasms in larynx, pharynx and esophagus. 3 Rheumatic
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