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Common Dermatological Syndromes
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Lupus Erythematosus
Skin features: Malar rash (butterfly rash), discoid lesions; Systemic associations: Renal, hematologic, and neurologic involvement; Management: Antimalarials, corticosteroids, immunosuppressants.
Peutz-Jeghers Syndrome
Skin features: Mucocutaneous pigmented macules; Systemic associations: Hamartomatous polyps in GI tract, increased cancer risk; Management: Surveillance for polyps, cancer screenings, genetic counseling.
Albinism
Skin features: Hypopigmentation, sensitivity to sunlight; Systemic associations: Vision abnormalities; Management: Protective clothing and sunscreen, regular ophthalmologic evaluations, genetic counseling.
Polycystic Ovarian Syndrome (PCOS)
Skin features: Hirsutism, acne, acanthosis nigricans; Systemic associations: Menstrual irregularities, infertility, metabolic syndrome; Management: Lifestyle modifications, hormonal therapy, management of metabolic complications.
Marfan Syndrome
Skin features: Stretch marks, thin skin; Systemic associations: Cardiovascular abnormalities (aortic aneurysm), ocular issues (lens dislocation); Management: Regular monitoring of cardiovascular system, surgical interventions for aortic complications.
Cutaneous T-cell Lymphoma (Mycosis Fungoides)
Skin features: Patches, plaques, and tumors with potential ulceration; Systemic associations: Lymphadenopathy, potential spread to other organs; Management: Skin-directed therapies, systemic therapies for advanced disease, regular follow-ups.
Xeroderma Pigmentosum
Skin features: Photosensitivity, early onset of freckling; Systemic associations: High risk of skin cancers, possible neurological degeneration; Management: Strict photoprotection, regular skin examinations, excision of neoplastic lesions.
Sturge-Weber Syndrome
Skin features: Port-wine stain (facial capillary malformation); Systemic associations: Leptomeningeal angiomas, seizures, glaucoma; Management: Management of seizures, laser therapy for port-wine stain, regular ophthalmologic evaluations for glaucoma.
Psoriasis
Skin features: Silvery scaly plaques on extensor surfaces, nail changes; Systemic associations: Arthritis, cardiovascular diseases; Management: Topical treatments, phototherapy, systemic agents for severe cases.
Steven-Johnson Syndrome/Toxic Epidermal Necrolysis
Skin features: Widespread blistering, mucosal involvement; Systemic associations: Fever, multi-organ failure; Management: Discontinuation of offending medication, supportive care in burn unit or ICU, possible immunoglobulins.
Ehlers-Danlos Syndrome
Skin features: Hyperextensible skin, easy bruising; Systemic associations: Joint hypermobility, vascular complications; Management: Genetic counseling, avoidance of trauma, management of joint and vascular complications.
Neurofibromatosis Type 1
Skin features: Café-au-lait spots, neurofibromas; Systemic associations: Nervous system tumors, Lisch nodules (iris hamartomas), skeletal dysplasia; Management: Regular neurologic assessments, surgical removal of problematic neurofibromas.
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