Dermatologic Differential Diagnosis.pdf. - Famona Site
Dermatologic Differential Diagnosis.pdf. - Famona Site
Dermatologic Differential Diagnosis.pdf. - Famona Site
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Greig cephalopolysyndactyly – malformed ears Clin Genet<br />
24:257–265, 1983<br />
Hereditary gelsolin amyloidosis (AGel amyloidosis) – cutis laxa<br />
(floppy ears), corneal lattice dystrophy, cranial and peripheral<br />
polyneuropathy BJD 152:250–257, 2005<br />
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu<br />
syndrome)<br />
Hypertelorism–microtia–clefting syndrome (Bixler syndrome)<br />
J Med Genet 19:387–388, 1982<br />
Incontinentia pigmenti – ear anomalies JAAD 47:169–187, 2002<br />
Johnson–McMillin syndrome – autosomal dominant, facial<br />
nerve palsy, hearing loss, hyposmia, hypogonadism, microtia,<br />
alopecia Bolognia p.859, 2003<br />
Juvenile hyaline fibromatosis (infantile systemic hyalinosis) –<br />
nodular perianal lesions, ears, lips, gingival hypertrophy,<br />
hyperpigmentation, flexion contractures of joints, osteolytic<br />
defects, stunted growth Ped Derm 18:400–402, 2001;<br />
Dermatology 190:148–151, 1995; Ped Derm 11:52–60, 1994;<br />
ear nodules Int J Paediatr Dent 6:39–43, 1996<br />
Kabuki makeup syndrome – short stature, distinct face (long<br />
palpebral fissures, eversion of the lower eyelids, sparse arched<br />
lateral eyebrows, prominent (large ears, earlobes) malformed<br />
ears), cutis laxa, hyperextensible joints, syndactyly, fetal finger<br />
pads with abnormal dermatoglyphics, mental retardation JAAD<br />
S247–251, 2005; Am J Med Genet 94:170–173, 2000;<br />
Am J Med Genet 31:565–589, 1988; J Pediatr 105:849–850,<br />
1984; J Pediatr 99:565–569, 1981<br />
KID syndrome – keratosis, ichthyosis, deafness syndrome –<br />
fixed orange, symmetrical hyperkeratotic plaques of scalp, ears,<br />
and face with perioral rugae; aged or leonine facies;<br />
erythrokeratoderma-like; later hyperkeratotic nodules develop<br />
Ped Derm 17:115–117, 2000; Ped Derm 13:105–113, 1996<br />
Laband syndrome (hereditary gingival fibromatosis) – soft, large<br />
floppy ears; bulbous soft nose, gingival fibromatosis; absent<br />
nails; atrophic distal phalanges, hyperextensible joints,<br />
hepatosplenomegaly, hypertrichosis, mental retardation Ped<br />
Derm 10:263–266, 1993; J Otol Pathol Med 19:385–387, 1990;<br />
Oral Surg Oral Med Oral Pathol 17:339–351, 1964<br />
Lacrimo-auriculo-dento-digital (LADD) syndrome –<br />
cup-shaped ears, hearing loss, nasolacrimal duct obstruction,<br />
hypodontia, enamel dysplasia, digital malformations Eur J<br />
Pediatr 146:536–537, 1987; J Med Genet 24:94–95, 1987;<br />
J Pediatr 83:438–444, 1973<br />
Langer–Gideon syndrome (trichorhinophalangeal syndrome,<br />
type II) – large ears Am J Med Genet 19:113–119, 1984<br />
LEOPARD (Moynahan’s) syndrome – CALMs, granular cell<br />
myoblastomas, steatocystoma multiplex, small penis,<br />
hyperelastic skin, low-set ears, short webbed neck, short<br />
stature, syndactyly JAAD 46:161–183, 2002; JAAD 40:877–890,<br />
1999; J Dermatol 25:341–343, 1998; Am J Med 60:447–456,<br />
1976; AD 107:259–261, 1973<br />
Leprechaunism (Donohue syndrome) – large ears Ann Genet<br />
30:221–227, 1987<br />
Lumpy scalp syndrome – autosomal dominant; irregular scalp<br />
nodules, deformed pinnae, rudimentary nipples Clin Exp<br />
Dermatol 15:240, 1989; BJD 99:423–430, 1978<br />
Mandibulofacial dysostosis, microtia, talipes, agenesis of the<br />
patellae Birth Defects 11:39–50, 1975<br />
MAUIE syndrome – micropinnae, alopecia, ichthyosis, and<br />
ectropion JAAD 37:1000–1002, 1997<br />
Maxillofacial dysostosis – minor ear abnormalities J Med Genet<br />
14:355–358, 1977; X-linked Am J Med Genet 21:137–142, 1985<br />
MC/MR syndrome with multiple circumferential skin creases –<br />
multiple congenital anomalies including high forehead,<br />
elongated face, bitemporal sparseness of hair, broad eyebrows,<br />
EAR LESIONS 153<br />
blepharophimosis, bilateral microphthalmia and microcornea,<br />
epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks,<br />
microstomia, cleft palate, enamel hypoplasia, micrognathia,<br />
microtia with stenotic ear canals, posteriorly angulated ears,<br />
short stature, pectus excavatum, inguinal and umbilical hernias,<br />
scoliosis, hypoplastic scrotum, long fingers, overlapping toes,<br />
severe psychomotor retardation with hypotonia; resembles<br />
Michelin tire baby syndrome Am J Med Genet 62:23–25, 1996<br />
Melnick–Needles syndrome – large ears J Pediatr Orthoped<br />
3:387–391, 1983<br />
Mohr’s orofaciodigital syndrome – small ears Rook<br />
p.3015–3016, 1998, Sixth Edition<br />
Multicentric reticulohistiocytosis – ear nodules AD<br />
140:919–921, 2004; Clin Rheumatol 15:62–66, 1996<br />
Nager syndrome (preaxial acrofacial dysostosis) – low-set ears<br />
Birth Defects 10:109–115, 1974<br />
Neu–Laxova syndrome – large low-set ears; mild scaling to<br />
harlequin ichthyosis appearance; ichythosiform scaling,<br />
increased subcutaneous fat and atrophic musculature,<br />
generalized edema and mildly edematous feet and hands,<br />
absent nails; microcephaly, intrauterine growth retardation,<br />
limb contractures, sloping forehead, short neck; small<br />
genitalia, eyelid and lip closures, syndactyly, cleft lip and<br />
palate, micrognathia; autosomal recessive; uniformly fatal<br />
Ped Derm 20:25–27,78–80, 2003; Curr Prob Derm 14:71–116,<br />
2002; Clin Dysmorphol 6:323–328, 1997; Am J Med Genet<br />
35:55–59, 1990<br />
Neurofibromatosis type II – angiofibromas (pink–red papules)<br />
grouped on the ear AD 134:760–761, 1998<br />
Noonan’s syndrome – webbed neck, short stature, malformed<br />
ears, nevi, keloids, transient lymphedema, ulerythema<br />
ophyrogenes, keratosis follicularis spinulosa decalvans JAAD<br />
46:161–183, 2002; Rook p.3016, 1998, Sixth Edition; J Med<br />
Genet 24:9–13, 1987<br />
Opitz BBB/G compound syndrome (oculo–genito–laryngeal<br />
syndrome) – malformed ears Am J Med Genet 28:303–309, 1987<br />
Oto-onycho-peroneal syndrome (Pfeiffer’s syndrome) –<br />
crumpled pinnae, aplasia of the nails and fibulae Eur J Paediatr<br />
138:137–320, 1982<br />
Pallister–Killian syndrome – large ears J Clin Dysmorphol<br />
1:2–3, 1983<br />
Palmoplantar keratoderma, large ears, sparse hypopigmented<br />
scalp hair, frontal bossing Ped Derm 19:224–228, 2002<br />
Patau’s syndrome (trisomy 13) – abnormal helices, low-set<br />
ears; parieto-occipital scalp defects, loose skin of posterior<br />
neck, simian crease of hand, hyperconvex narrow nails,<br />
polydactyly Ped Derm 22:270–275, 2005; Rook p.3016, 1998,<br />
Sixth Edition<br />
PHACES syndrome<br />
Post-axial acrofacial dysostosis – small malformed ears<br />
J Pediatr 95:970–975, 1979<br />
Potter sequence (oligohydramnios syndrome) – malformed ears<br />
Syndromes of the Head and Neck; 1990, p.4–11.<br />
Relapsing polychondritis – red, edematous painful ear;<br />
collapsed ear Medicine 55:193–216, 1976<br />
Restrictive dermopathy – autosomal recessive, dysplastic lowset<br />
ears; erythroderma at birth, with extensive erosions and<br />
contractures; taut shiny skin; fetal akinesia, multiple joint<br />
contractures, dysmorphic facies with fixed open mouth,<br />
hypertelorism, pulmonary hypoplasia, bone deformities;<br />
uniformly fatal AD 138:831–836, 2002; Ped Derm 19:67–72,<br />
2002; Ped Derm 16:151–153, 1999; AD 134:577–579, 1998;<br />
AD 128:228–231, 1992<br />
Reticulolinear aplasia cutis congenita of the face and neck – Xp<br />
deletion syndrome, MIDAS (microphthalmia, dermal aplasia,