Schneiderman Prelims Vol-I. qxd

276
A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
Schneiderman page 200-300.qxd 5/16/2006 6:49 PM Page 276

---

Cornelia de Lange syndrome – specific facies, hypertrichosis of
forehead, face, back, shoulders, and extremities, synophrys;
long delicate eyelashes, cutis marmorata, skin around eyes and
nose with bluish tinge, red nose 
Ped Derm 19:42–45, 2002;
Rook p.428, 1998, Sixth Edition; JAAD 37:295–297, 1997;
J Pediatr Ophthalmol Strabismus 27:94–102, 1990
Cretinism – coarse facial features, lethargy, macroglossia, cold
dry skin, livedo, umbilical hernia, poor muscle tone, coarse
scalp hair, synophrys, no pubic or axillary hair at puberty 
Rook
p.2708, 1998, Sixth Edition
Del (3p) syndrome 
Am J Med Genet 32:269–273, 1990
Distichiasis–lymphedema syndrome 
BJD 142:148–152, 2000
Dup (3q) syndrome 
Birth Defects 14:191–217, 1978
Fetal trimethadione syndrome 
Teratology 3:349–362, 1970
Frydman syndrome – autosomal recessive; prognathism,
syndactyly, short stature, blepharophimosis, weakness of
extraocular and frontal muscles, synophrys 
Clin Genet
41:57–61, 1992
Hajdu–Cheney syndrome (osteolysis) – broad eyebrows with
synophrys 
J Periodontol 55:224–229, 1984
Hypertrichosis lanuginosa
Infantile systemic hyalinosis – autosomal recessive; synophrys,
thickened skin, perianal nodules, dusky red plaques of buttocks,
gingival hypertrophy, joint contractures, juxta-articular nodules
(knuckle pads), osteopenia, growth failure, diarrhea, frequent
infections, facial red papules 
JAAD 50:S61–64, 2004
Kwashiorkor
Mucopolysaccharidoses types I, II, III, IV, VI – thick eyebrows
with synophrys 
JAAD 37:295–297, 1997
Pachyonychia congenita
Pigmented hairy epidermal nevus syndrome – unilateral brown
hyperpigmented plaques with hypertrichosis; generalized
checkerboard pattern, ipsilateral hypoplasia of the breast,
skeletal abnormalities 
JAAD 50:957–961, 2004
Porphyrias – congenital erythropoietic porphyria, porphyria
cutanea tarda
Waardenburg’s syndrome – synophrys; widow’s peak 
JAAD
37:295–297, 1997