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Dermatologic Differential Diagnosis.pdf. - Famona Site

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Familial mitral valve prolapse syndrome Am J Med Genet<br />

62:417–426, 1996<br />

Familial myopathy with marfanoid features and multicores<br />

Aust N Z J Med 14:495–499, 1984<br />

Goodman campylodactyly syndrome B Ophthalmology 86<br />

(10):1764–1793, 1979<br />

Homocystinuria – cystathionine-β synthase deficiency – marfanoid<br />

habitus, malar rash, larger facial pores, livedo reticularis, tissue<br />

paper scars, sparse fine hair, superficial thrombophlebitis<br />

JAAD 46:161–183, 2002; JAAD 40:279–281, 1999<br />

Klinefelter syndrome Ophthalmology 86 (10):1764–1793, 1979<br />

Klippel–Trenaunay syndrome<br />

Loeys–Dietz syndrome Nature Genet 37:275–281, 2005<br />

Lujan–Fryns syndrome – X-linked; hypernasal voice, large head<br />

and long narrow face; mental retardation with marfanoid habitus<br />

Am J Med Genet 119A:363–366, 2003<br />

Marfan’s syndrome – long extremities, arachnodactyly, skeletal,<br />

ocular, cardiovascular defects Rook p.2030–2031, 1998,<br />

Sixth Edition; Am J Med Genet 62:417–426, 1996; Int J<br />

Derm 28:291–299, 1989<br />

Marfan’s syndrome with neurogenic muscle atrophy Kurume<br />

Med J 38:275–279, 1991<br />

Marfanoid body habitus with crystalline lens subluxation, acute<br />

exophthalmos with intraocular hemorrhage and coma Medicina<br />

(Buenos Aires) 52:563–569, 1992<br />

Marfanoid body habitus with acquired tracheobronchomegaly<br />

Chest 98:491–492, 1990<br />

Marfanoid body habitus – with excessive hyperextensibility<br />

(Ehlers–Danlos syndrome type VIB) Am J Med Genet<br />

36:269–272, 1990; Nippon Naika Gakkai Zasshi 77:499–505,<br />

1988<br />

Marfanoid body habitus with situs inversus Am J Med Genet<br />

127A:310–312, 2004<br />

Marfanoid features, visceral diverticula, diaphragmatic<br />

eventration Arch Dis Child 75:247–248, 1996<br />

Marfanoid hypermobility syndrome – microcephaly, mental<br />

retardation, focal glomerulonephritis Clin Dysmorphol<br />

1:111–113, 1992; Ann Intern Med 71:349–352, 1969<br />

Marfanoid phenotype, congenital contractures with ocular and<br />

cardiovascular anomalies, cerebral white matter hypoplasia,<br />

and spinal axonopathy Eur J Pediatr 143:228–231, 1985<br />

MASS phentotype – myopia, mitral valve prolapse, mild aortic<br />

dilatation, skin striae, skeletal involvement Am J Med Genet<br />

62:417–426, 1996<br />

Megaduodenum megacystis Ophthalmology 86<br />

(10):1764–1793, 1979; Arch Surg 96:549–553, 1968<br />

Mental retardation, X-linked, Snyder–Robinson type Clin Pediatr<br />

8:669–674, 1969<br />

Methylmalonic aciduria and homocystinuria, cb1C type Biochem<br />

Med 4:500–515, 1970<br />

Mirhosseini syndrome Ophthalmology 86 (10):1764–1793, 1979<br />

Multifocal Langerhans cell granulomatosis and diabetes<br />

insipidus with marfanoid habitus J Assoc Physicians India<br />

36:665–667, 1988<br />

Multiple endocrine neoplasia, type I – marfanoid habitus, optic<br />

atrophy<br />

MEN IIA – Sipple syndrome<br />

Multiple mucosal neuroma syndrome (MEN IIB) (Gorlin’s<br />

syndrome) – skin-colored papules and nodules of lips, tongue,<br />

oral mucosa AD 139:1647–1652, 2003; JAAD 36:296–300,<br />

1997; Am J Med 31:163–166, 1961<br />

MEN type III – Froboese’ syndrome<br />

Myotonic dystrophy Ophthalmology 86 (10):1764–1793, 1979<br />

Nemaline myopathy Ophthalmology 86 (10):1764–1793, 1979<br />

Nerve deafness, eye anomalies, and Marfanoid habitus –<br />

autosomal dominant Birth Defects: Original Article Series. 07<br />

(4):137–139, 1971<br />

Nevoid basal cell carcinoma syndrome JAAD 11:98–104, 1984<br />

Pachydermoperiostosis, cryptorchidism, and marfanoid<br />

appearance Arch Belg Dermatol Syphiligr 23 (1):121–135, 1967<br />

Peculiar facies and marfanoid habitus with psychomotor<br />

retardation Clin Genet 25:187–190, 1984<br />

Shprintzen–Goldberg syndrome – marfanoid features and<br />

craniostenosis (craniosynostosis), mental retardation Am J Med<br />

Genet 76:202–212, 1998; J Craniofac Genet Dev Biol 2:65–74,<br />

1982; without mental retardation Clin Dysmorphol 2:220–224,<br />

1993<br />

Sickle cell anemia<br />

Stickler syndrome (hereditary arthro-ophthalmopathy) –<br />

autosomal dominant; flat midface, cleft palate, myopia with<br />

retinal detachment, cataracts, hearing loss, arthropathy<br />

J Med Genet 36:353, 359, 1999; Birth Defects 11:77–103,<br />

1975<br />

Tall people Rook p.2031, 1998, Sixth Edition<br />

Transforming growth factor-beta receptor type II (TGFBR2)<br />

Nature Genet 36:855–860, 2004<br />

Wagner–Stickler syndrome (dystrophia vitreoretinalis<br />

hereditaria) – hereditary arthro-ophthalmopathy<br />

47,XYY syndrome Am J Dis Child 124:266–277, 1972<br />

MASSES OF THE HEAD AND NECK<br />

AUTOIMMUNE DISEASES, AND DISEASES OF<br />

IMMUNE DYSFUNCTION<br />

Lupus erythematosus, including tumid lupus JAAD 41:250–253,<br />

1999; Am J Dermatopathol 21:356–360, 1999<br />

Rheumatoid nodulosis Arthritis Rheum 40:175–178, 1997<br />

CONGENITAL<br />

MASSES OF THE HEAD AND NECK 331<br />

Accessory auricle<br />

Amnion rupture sequence Syndromes of the Head and Neck,<br />

3rd Edition, pp.11–13, 1990<br />

Branchial cleft cyst – over the sternocleidomastoid muscle<br />

(second pharyngeal arch)<br />

Cephalocoele – includes encephalocele, meningocoele<br />

(rudimentary meningocoele), meningoencephalocele,<br />

meningomyelocele; blue nodule with overlying hypertrichosis<br />

JAAD 46:934–941, 2002; AD 137:45–50, 2001<br />

Cephalohematoma (cephalohematoma deformans) – blood<br />

between outer table of skull and periosteum; fixed Ped Clin<br />

North Am 6:1151–1160, 1993<br />

Congenital rhabdomyomatous mesenchymal hamartoma<br />

(striated muscle hamartoma) – skin-colored pedunculated<br />

(polypoid) nodule of neck, midline of chin, upper lip Ped Derm<br />

16:65–67, 1999; Ped Derm 7:199–204, 1990; Ped Derm<br />

3:153–157, 1986<br />

Craniofacial deformations Syndromes of the Head and Neck,<br />

3rd Edition, pp.1–4, 1990

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