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Dermatologic Differential Diagnosis.pdf. - Famona Site

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200 A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1<br />

dermatitis; increased risk of infections, fibrocystic lung disease<br />

BJD 153:310–318, 2005; JAAD 45:634–636, 2001; Ped Derm<br />

11:133–138, 1994; Am J Med Genet 39:338–341, 1991; JAAD<br />

21:351–357, 1989; Am J Hum Genet 31:414–427, 1979; Oral<br />

Surg Oral Med Oral Pathol 46:645–657, 1978; Arch Pathol<br />

70:696–711, 1960<br />

Hyper-IgE syndrome Ped Derm 9:410–413, 1992; vernal<br />

conjunctivitis Ophthalmology 91:1213–1216, 1984<br />

HID syndrome (hystrix-like ichthyosis with deafness) –<br />

autosomal dominant; shark-skin appearance, sensorineural<br />

deafness, spiky and cobblestoned hyperkeratosis, neonatal<br />

erythroderma, scarring alopecia, occasional punctate keratitis;<br />

probably variant of KID syndrome with mutation of connexin 26<br />

(gap junction protein) BJD 146:938–942, 2002<br />

Ichthyosis follicularis with atrichia and photophobia (IFAP) –<br />

collodion membrane and erythema at birth; generalized<br />

follicular keratoses, non-scarring alopecia, keratotic papules of<br />

elbows, knees, fingers, extensor surfaces, xerosis; punctate<br />

keratitis and corneal vascularization BJD 142:157–162, 2000;<br />

AD 125:103–106, 1989; <strong>Dermatologic</strong>a 177:341–347, 1988; Am<br />

J Med Genet 85:365–368, 1999<br />

Incontinentia pigmenti – iritis, uveitis JAAD 47:169–187, 2002;<br />

Curr Prob Derm VII:143–198, 1995; AD 112:535–542, 1976<br />

Job’s syndrome – chronic keratoconjunctivitis<br />

Kawasaki’s disease – non-suppurative conjunctivitis; macular,<br />

morbilliform, urticarial, scarlatiniform, erythema multiforme-like,<br />

pustular, erythema marginatum-like exanthems; strawberry<br />

tongue; cheilitis; edematous hands with lamellar desquamation;<br />

myocarditis and coronary artery thrombosis and aneurysms;<br />

arthralgia, arthritis JAAD 39:383–398, 1998; Jpn J Allergol<br />

16:178–222, 1967<br />

Keratosis–ichthyosis–deafness (KID) syndrome – reticulated<br />

severe diffuse hyperkeratosis of palms and soles, well<br />

marginated, serpiginous erythematous verrucous plaques,<br />

perioral furrows, leukoplakia, sensory deafness, photophobia<br />

with vascularizing keratitis, blindness JAAD 23:385–388, 1990;<br />

AD 123:777–782, 1987; AD 117:285–289, 1981<br />

Lipoid proteinosis JAAD 14:367–371, 1986<br />

MAGIC syndrome – combination of relapsing polychondritis and<br />

Behçet’s syndrome AD 126:940–944, 1990<br />

Muckle–Wells syndrome – conjunctivitis, aching joints,<br />

deafness, amyloid neuropathy, cold air urticaria BJD<br />

151:99–104, 2004<br />

Mucoepithelial dysplasia (gap junction disease) – simulates<br />

candidal infection, dry rough skin, keratosis pilaris, thin scalp<br />

hair, perleche, keratoconjunctivitis<br />

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

syndrome) – keratitis due to decreased tear production Can<br />

J Ophthalmol 11:290–294, 1976; skin-colored papules and<br />

nodules of lips, tongue, oral mucosa JAAD 36:296–300, 1997;<br />

Oral Surg 51:516–523, 1981; J Pediatr 86:77–83, 1975; Am<br />

J Med 31:163–166, 1961<br />

Mulvihill–Smith syndrome – short stature, microcephaly,<br />

unusual facies, multiple pigmented nevi, hypodontia,<br />

immunodeficiency with chronic infections, high pitched voice,<br />

progeroid, conjunctivitis, delayed puberty J Med Genet<br />

31:707–711, 1994<br />

Neurofibromatosis – congenital glaucoma with conjunctival<br />

hyperemia Textbook of Neonatal Dermatology, p.484, 2001<br />

Neutral lipid storage disease (Dorfman–Chanarin syndrome) –<br />

autosomal recessive; at birth collodion baby or ichthyosiform<br />

erythroderma; thereafter pattern resembles non-bullous<br />

ichthyosiform erythroderma; hypohidrosis; ectropion;<br />

palmoplantar hyperkeratosis, WBC vacuoles, myopathy, fatty<br />

liver, CNS disease, deafness JAAD 17:801–808, 1987;<br />

AD 121:1000–1008, 1985<br />

Oligodontia, keratitis, skin ulceration, and arthroosteolysis Am J<br />

Med Genet 15:205–210, 1983<br />

Pseudoacromegaly – autosomal recessive; skin ulcers,<br />

arthro-osteolysis, keratitis, oligodontia Am J Med Genet<br />

15:205–210, 1983<br />

Rapp–Hodgkin ectodermal dysplasia – congenital, autosomal<br />

dominant, ectodermal dysplasia, distinctive craniofacial features,<br />

cleft lip or palate and hypospadias in males; scalp dermatitis Ped<br />

Derm 7:126–131, 1990; Ped Derm 14:149–150, 1997<br />

Recalcitrant erythematous desquamating (RED) syndrome –<br />

diffuse macular erythema, ocular and mucosal erythema,<br />

strawberry tongue, delayed desquamation in the setting of AIDS<br />

JAAD 39:383–398, 1998<br />

Reiter’s syndrome – conjunctivitis, iritis, uveitis Ophthalmology<br />

93:350–356, 1986; Ann Rheum Dis 38 (Suppl.):8–11, 1979<br />

Relapsing polychondritis – scleritis Rook p.3006, 1998, Sixth<br />

Edition; iritis, conjunctivitis, episcleritis Medicine 80:173–179,<br />

2001; Eye and Skin Disease, pp.239–242, Lippincott, 1996;<br />

Medicine 55:193–216, 1976; Arch Gen Med 14:29–34, 1869<br />

Sjögren’s syndrome – keratoconjunctivitis sicca Rook p.2572,<br />

1998, Sixth Edition<br />

Spangler–Tappeiner syndrome<br />

Sturge–Weber syndrome – episcleral telangiectasia with facial<br />

nevus flammeus Eyelid and Conjunctival Tumors, Shields JA<br />

and Shields CL, Lippincott Williams and Wilkins p.117, 1999;<br />

congenital glaucoma with conjunctival hyperemia Textbook of<br />

Neonatal Dermatology, p.484, 2001<br />

Sweet’s syndrome – conjunctivitis, episcleritis, and inflammatory<br />

glaucoma JAAD 40:331–334, 1999; J Rheumatol<br />

23:1995–1998, 1996; JAAD 31:835–836, 1994; JAAD<br />

31:535–556, 1994; BJD 76:349–356, 1964<br />

Tumor necrosis factor (TNF) receptor 1-associated periodic<br />

fever syndromes (TRAPS) (same as familial Hibernian fever,<br />

autosomal dominant periodic fever with amyloidosis, and benign<br />

autosomal dominant familial periodic fever) – erythematous<br />

patches, tender red plaques, fever, annular, serpiginous,<br />

polycyclic, reticulated, and migratory patches and plaques<br />

(migrating from proximal to distal), urticaria-like lesions, lesions<br />

resolving with ecchymoses, conjunctivitis, periorbital edema,<br />

myalgia, arthralgia, abdominal pain, headache; Irish and<br />

Scottish predominance; mutation in TNFRSF1A – gene<br />

encoding 55 kDa TNF receptor AD 136:1487–1494, 2000<br />

Tyrosinemia type II (Richner–Hanhart syndrome) – herpetiform<br />

erosions and dendritic ulcers JAAD 35:857–859, 1997<br />

Vogt–Koyanagi–Harada syndrome – granulomatous panuveitis<br />

Eye and Skin Disease, pp.303–309, Lippincott, 1996<br />

Wells’ syndrome – iritis Int J Dermatol 31:672, 1992<br />

Wyburn–Mason syndrome (Bonnet–Duchaume–Blanc<br />

syndrome)<br />

Xeroderma pigmentosum – conjunctivitis; acute sunburn,<br />

persistent erythema, freckling – initially discrete, then fuse<br />

to irregular patches of hyperpigmentation, dryness on<br />

sun-exposed areas; with time telangiectasias and small<br />

angiomas, atrophic white macules develop; vesiculobullous<br />

lesions, superficial ulcers lead to scarring, ectropion; multiple<br />

malignancies; photophobia, conjunctivitis, ectropion,<br />

symblepharon, neurologic abnormalities BJD 152:545–551,<br />

2005; Adv Genet 43:71–102, 2001; Hum Mutat 14:9–22, 1999;<br />

Mol Med Today 5:86–94, 1999; Derm Surg 23:447–455, 1997;<br />

Dermatol Clin 13:169–209, 1995; Recent Results Cancer Res<br />

128:275–297, 1993; AD 123:241–250, 1987; Ann Intern Med<br />

80:221–248, 1974; XP variant AD 128:1233–1237, 1992

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