Dermatologic Differential Diagnosis.pdf. - Famona Site
Dermatologic Differential Diagnosis.pdf. - Famona Site
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