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Differential diagnoses for multiple facial papules | Clinical features | Significance |
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Brooke-Spiegler syndrome [19, 20] | Multiple trichoepitheliomas, cylindromas, and spiradenomas | Parotid basal cell adenomas, adenocarcinomas |
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Multiple familial trichoepitheliomas [1, 2, 21] | Multiple lesions with autosomal dominant inheritance | Malignant transformation to basal cell carcinomas |
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Familial cylindromatosis [3, 9] | Multiple skin tumours | Vision difficulties |
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Cowden’s syndrome [22] | Multiple trichilemmomas, fibroepithelial polyps, and macrocephaly | Increased risk of developing malignancies in the breast, thyroid, and endometrium |
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Birt-Hogg-Dube [23] | Fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts | Pulmonary cysts/history of pneumothorax, and various types of renal tumours |
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Rombo’s syndrome [24] | Multiple trichoepitheliomas, milia, and vermiculate atrophy | Basal cell carcinoma, peripheral vasodilation, and cyanosis |
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Bazex-Dupre-Christol syndrome [25, 26] | Congenital hypotrichosis, follicular atrophoderma, milia, basal cell carcinomas, and hypohidrosis | Presence of a primary malignant neoplasm of the upper aerodigestive tract or metastatic cancer to the lymph nodes of the neck |
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Muir–Torre syndrome [26, 27] | Sebaceous adenomas, keratoacanthomas | Colonic polyposis, occult laryngeal carcinomas, and gastric carcinomas |
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Tuberous sclerosis [26] | Multiple cutaneous angiofibromas, ash leaf spots, cardiac rhabdomyoma, and cortical tubers | Patients suffering from various symptoms, organs affected by tumours, and mentally retarded |
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Neurofibromatosis-1 [26] | Multiple neurofibromas, plexiform neurofibromas, café-au-lait patches, axillary freckling, and Lisch nodules | Neurofibromas may undergo malignant transformation |
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Gardener syndrome [26] | Multiple osteomas, epidermoid cysts, supernumerary teeth, and odontomes | High-malignant transformation rate for gastrointestinal polyps |
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MENIIB [26] | Multiple mucosal neuromas, phaeochromocytomas, and thyroid malignancies | Oral/perioral mucosal neuromas develop prior to malignancies and would help in early diagnosis |
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