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