Schneiderman Prelims Vol-I. qxd

150
A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
Schneiderman page 100-200.qxd 5/16/2006 6:49 PM Page 150

---

Granuloma faciale, extrafacial 
BJD 145:360–362, 2001;
Dermatology 198:79–82, 1999; AD 79:42–52, 1959
Hamilton’s sign – hypertrichosis
Harlequin fetus (ichthyosis congenital fetalis) – severe
non-bullous ichthyosiform erythroderma or mild erythrodermic
ichthyosis – rudimentary ears 
JAAD 212:335–339, 1989; Ped
Derm 6:216–221, 1989; Int J Derm 21:347–348, 1982
Juvenile spring eruption
Keratosis lichenoides chronica – ear papules in childhood 
Clin
Exp Dermatol 27:283–285, 2002
Lamellar ichthyosis – hypoplasia of ear cartilage 
Rook p.1500,
1998, Sixth Edition
Lichen planus, hypertrophic – verrucous plaque
Low-set ears – isolated phenomenon 
Rook p.3016, 1998,
Sixth Edition
Milia en plaque – earlobes, post-auricular area 
Derm Surg
28:291–295, 2002
Pityriasis rosea
Pityriasis rubra pilaris
Perifollicular macular atrophy (perifollicular elastolysis) –
gray–white finely wrinkled round areas of atrophy with central
hair follicle; earlobes 
BJD 83:143–150, 1970
PREAURICULAR SINUSES (EAR PITS)
Ped Derm 21:191–196, 2004
Sporadic
Familial – autosomal dominant
Branchio-oto-renal syndrome (BOR) – autosomal dominant;
mutation in EYA1 gene; conductive, sensorineural, mixed
hearing loss; pre-auricular pits, structural defectso fo outer,
middle or inner ear; renal anomalies, renal failure, lateral
cervical fistulae, cysts, or sinuses; nasolacrimal duct stenosis or
fistulae 
Am J Kidney Dis 37:505–509, 2001
Branchio-otic syndrome – branchial anomalies, preauricular pits,
hearing loss, no renal dysplasia 
J Med Genet 39:71–73, 2002
Branchio-oto-ureteral syndrome – bilateral sensorineural
hearing loss, preauricular pit or tag, duplication of ureters or
bifid renal pelvises
J Dermatol 29:157–159, 2002
Branchio-oto-costal syndrome – branchial arch anomalies,
hearing loss, ear and commissural lip pits, and rib anomalies
J Craniofac Genet Dev Biol 1 (suppl):287–295, 1985
Branchio-oculo-facial syndrome – abnormal upper lip,
malformed nose with broad nasal bridge and flattened tip,
lacrimal duct obstruction, malformed ears, branchial cleft
sinuses and/or linear skin lesions behind ears 
Ann Otol Rhinol
Laryngol 100:928–932, 1991
Chromosome 4 short arm deletion syndrome
Deafness and ear pits
Goldenhaar syndrome
Hemifacial microsomia syndrome – bilateral preauricular
sinuses, facial steatocystgoma multiplex associated with pilar
cysts, sensorineural hearing loss, facial palsy, microtia or
anotia, cervical appendages containing cartilage 
Am J Med
Genet 22:135–141, 1985
Lip pits – preauricular sinuses, conductive deafness,
commissural lip pits, external ear abnormalities 
J Med Genet
24:609–612, 1987
Bilateral defects, male transmission – bilateral cervical branchial
sinuses, bilateral preauricular sinuses, bilateral malformed
auricles, bilateral hearing impairment 
Hum Genet 56:269–273,
1981
Tetralogy of Fallot and clinodactyly – characteristic facies,
preauricular pits, fifth finger clinodactyly, tetralogy of Fallot 
Clin
Pediatr (Phila) 27:451–454, 1988
Ectodermal dysplasia – preauricular pits, tetra-amelia,
ectodermal dysplasia, hypoplastic lacrimal ducts and sacs
opening toward exterior, peculiar facies, developmental
retardation 
Ann Genet 30:101–104, 1987
Waardenburg syndrome – bilateral preauricular sinuses 
Acta
Paediatr 86:17–172, 1997
Incomplete trisomy 22 – complex congenital heart defect,
membranous anal atresia without fistula, distal limb hypoplasia,