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Dermatologic Differential Diagnosis.pdf. - Famona Site

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

abnormal ears and teeth, nail dystrophy, syndactyly, reduced<br />

apocrine secretion Bolognia p.924, 2003<br />

Gardner’s syndrome – supernumerary teeth Ghatan p.267,<br />

2002, Second Edition<br />

Hidrotic ectodermal dysplasia – ‘tiger teeth’ Ghatan p.267, 2002,<br />

Second Edition<br />

Hunter’s syndrome – widely spaced teeth; reticulated 2–10-mm<br />

skin-colored papules over scapulae, chest, neck, arms; X-linked<br />

recessive; MPS type II; iduronate-2 sulfatase deficiency;<br />

lysosomal accumulation of heparin sulfate and dermatan<br />

sulfate; short stature, full lips, coarse facies, macroglossia, clear<br />

corneas (unlike Hurler’s syndrome), progressive<br />

neurodegeneration, communicating hydrocephalus, valvular and<br />

ischemic heart disease, lower respiratory tract infections,<br />

adenotonsillar hypertrophy, otitis media, obstructive sleep<br />

apnea, diarrhea, hepatosplenomegaly, skeletal deformities<br />

(dysostosis multiplex), dolichocephaly, deafness, retinal<br />

degeneration, inguinal and umbilical hernias Ped Derm<br />

21:679–681, 2004<br />

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

enamel dysplasia; collodion membrane and erythema at birth;<br />

ichthyosis, spiny (keratotic) follicular papules (generalized<br />

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

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

keratitis, photophobia; nail dystrophy, psychomotor delay, short<br />

stature; beefy red tongue and gingiva, angular stomatitis, atopy,<br />

lamellar scales, psoriasiform plaques, palmoplantar erythema<br />

Curr Prob Derm 14:71–116, 2002; JAAD 46:S156–158, 2002;<br />

BJD 142:157–162, 2000; Am J Med Genet 85:365–368, 1999;<br />

Ped Derm 12:195, 1995; AD 125:103–106, 1989;<br />

<strong>Dermatologic</strong>a 177:341–347, 1988<br />

Incontinentia pigmenti – anomalous crowns with extra cusps;<br />

supernumerary teeth JAAD 47:169–187, 2002<br />

Jackli syndrome – generalized reticulated hyperpigmentation<br />

with alopecia, microdontia, and childhood cataracts<br />

Job’s syndrome (hyperimmunoglobulin E syndrome) – retention<br />

of primary teeth with double rows of teeth; deep-set eyes, broad<br />

nasal bridge, wide fleshy nasal tip, prognathism, ocular<br />

hypertelorism Clin Inf Dis 34:1213–1214,1267–1268, 2002;<br />

JAAD S268–269, 2002; Pediatr 141:572–575, 2002; Curr Prob<br />

Derm 10:41–92, 1998<br />

Keratosis–ichthysosis–deafness (KID) syndrome – abnormal<br />

teeth Ped Derm 19:513–516, 2002<br />

Minocycline – gray teeth Ghatan p.267, 2002, Second Edition<br />

Naegeli–Franceschetti–Jadassohn syndrome – autosomal<br />

dominant; reticulate gray to brown pigmentation of neck, upper<br />

trunk and flexures, punctate or diffuse palmoplantar<br />

keratoderma, hypohidrosis with heat intolerance, onycholysis,<br />

subungual hyperkeratosis, yellow tooth enamel Ped Derm<br />

22:122–126, 2005; JAAD 28:942–950, 1993<br />

Oculodentodigital dysplasia – autosomal dominant; enamel<br />

hypoplasia<br />

Oral–facial–digital syndrome type I (Papillon–Leage syndrome) –<br />

X-linked dominant; dental caries with widely spaced teeth; short<br />

upper lip, hypoplastic alanasi, hooked pug nose, hypertrophied<br />

labial frenulae, bifid or multilobed tongue with small tumors<br />

within clefts, clefting of hard and soft palate, trident hand or<br />

brachydactyly, syndactyly, or polydactyly; hair dry and brittle,<br />

alopecic, numerous milia of face, ears, backs of hands, mental<br />

retardation Ped Derm 9:52–56, 1992<br />

Osteogenesis imperfecta<br />

Porphyria – congenital erythropoietic porphyria – erythrodontia<br />

Rabson–Mendenhall syndrome – insulin-resistant diabetes<br />

mellitus, unusual facies, dental precocity, fissured tongue,<br />

hypertrichosis, acanthosis nigricans, and premature sexual<br />

development Ped Derm 19:267–270, 2002<br />

Rapp–Hodgkin hypohidrotic ectodermal dysplasia – autosomal<br />

dominant; alopecia of wide area of scalp in frontal to crown<br />

area, short eyebrows and eyelashes, coarse wiry sparse<br />

hypopigmented scalp hair, sparse body hair, scalp dermatitis,<br />

ankyloblepharon, syndactyly, nipple anomalies, cleft lip and/or<br />

palate; nails narrow and dystrophic, small stature, hypospadius,<br />

conical teeth and anodontia or hypodontia; distinctive facies,<br />

short stature JAAD 53:729–735, 2005; Ped Derm 7:126–131,<br />

1990; J Med Genet 15:269–272, 1968<br />

Rothmund–Thomson syndrome – dental dysplasia Ghatan<br />

p.267, 2002, Second Edition<br />

SHORT syndrome – short stature, hyperextensible joints, ocular<br />

depression, Reiger (ocular and dental) anomaly, teething delay,<br />

loss of subcutaneous fat of face, upper extremities, chest and<br />

Sjögren–Larsson syndrome – autosomal recessive; enamel<br />

dysplasia; serrated teeth Ghatan p.177, 2002, Second Edition<br />

Syphilis, congenital – Hutchinson’s incisors, mulberry molars<br />

Tetracycline – discoloration of teeth<br />

Tuberous sclerosis – enamel pits JAAD 49:163–166, 2003;<br />

Ghatan p.267, 2002, Second Edition<br />

TELANGIECTASIAS<br />

CONGENITAL AND/OR GENETIC SYNDROMES<br />

WITH TELANGIECTASIAS<br />

Acrogeria (Gottron’s syndrome) – micrognathia, atrophy of tip of<br />

nose, atrophic skin of distal extremities with telangiectasia, easy<br />

bruising, mottled pigmentation or poikiloderma of extremities,<br />

dystrophic nails BJD 103:213–223, 1980<br />

Amyoplasia congenita disruptive sequence – mid-facial macular<br />

telangiectatic nevi Am J Med Genet 15:571–590, 1983<br />

Angiokeratoma corporis diffusum (Fabry’s disease<br />

(α-galactosidase A) – X-linked recessive; NEJM 276:1163–1167,<br />

1967; fucosidosis (α 1 -fucosidase) AD 107:754–757, 1973;<br />

Kanzaki’s disease (α-N-acetylgalactosidase) – telangiectasias on<br />

lips, intraorally AD 129:460–465, 1993; aspartylglycosaminuria<br />

(aspartylglycosaminidase) Paediatr Acta 36:179–189, 1991;<br />

adult-onset GM1 gangliosidosis (beta galactosidase) Clin Genet<br />

17:21–26, 1980; galactosialidosis (combined β-galactosidase and<br />

sialidase) AD 120:1344–1346, 1984; no enzyme deficiency –<br />

telangiectasias or small angiokeratomas AD 123:1125–1127,<br />

1987; JAAD 12:885–886, 1985<br />

Arteriovenous fistulae – congenital; red pulsating nodules<br />

with overlying telangiectasia – extremities, head, neck, trunk<br />

Rook p.2237, 1998, Sixth Edition<br />

Ataxia telangiectasia (Louis–Bar syndrome) – telangiectasias of<br />

bulbar conjunctivae, tip of nose, ears, antecubital and popliteal<br />

fossae, dorsal hands and feet; atrophy with mottled hypo- and<br />

hyperpigmentation, dermatomal CALMs, photosensitivity,<br />

canities, acanthosis nigricans, dermatitis; cutaneous<br />

granulomas present as papules or nodules, red plaques with<br />

atrophy or ulceration Rook p.2095,1998, Sixth Edition;<br />

JAAD 10:431–438, 1984; Ann Intern Med 99:367–379, 1983<br />

Benign familial telangiectasias<br />

Bloom’s syndrome (congenital telangiectatic erythema and<br />

stunted growth) – autosomal recessive; slender face, prominent<br />

nose; facial telangiectatic erythema with involvement of eyelids,<br />

ear, hand and forearms; bulbar conjunctival telangiectasias;<br />

stunted growth; CALMs, clinodactyly, syndactyly, congenital<br />

heart disease, annular pancreas, high-pitched voice, testicular<br />

atrophy; no neurologic deficits Ped Derm 22:147–150, 2005;<br />

Am J Hum Genet 21:196–227, 1969; AD 94:687–694, 1966;<br />

Am J Dis Child 88:754–758, 1954<br />

Circumareolar telangiectasia, congenital AD 126:1656, 1990

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