Schneiderman Prelims Vol-I. qxd

SYNDROMES
Albinism
Alport’s syndrome
Ataxia telangiectasia – autosomal recessive; telangiectasias of
face, extensor surfaces of arms and bulbar conjunctiva;
immunodeficiency, increased risk of leukemia, lymphoma;
cerebellar ataxia with eye movement signs, mental retardation,
and other neurologic defects; café au lait macules 
Rook
p.2095,1998, Sixth Edition; Ann Intern Med 99:367–379, 1983
Behçet’s disease – relapsing iritis, conjunctivitis, episcleritis,
keratitis 
JAAD 41:540–545, 1999; JAAD 40:1–18, 1999; NEJM
341:1284–1290, 1999; JAAD 36:689–696, 1997
Blau syndrome – autosomal dominant; granulomatous arthritis,
synovial cysts, iritis, rash; resembles childhood sarcoid – red
papules, uveitis; chromosome 16p12–q21 
JAAD 49:299–302,
2003; Am J Hum Genet 76:217–221, 1998; Am J Hum Genet
59:1097–1107, 1996
Bloom’s syndrome (congenital telangiectatic erythema and
stunted growth) – autosomal recessive; blisters of nose and
cheeks; slender face, prominent nose; facial telangiectatic
erythema with involvement of eyelids, ear, hand and forearms;
bulbar conjunctival telangiectasias; stunted growth; CALMs,
clinodactyly, syndactyly, congenital heart disease, annular
pancreas, high-pitched voice, testicular atrophy; no neurologic
deficits 
Ped Derm 22:147–150, 2005; Curr Prob Derm
14:41–70, 2002; Ped Derm 14:120–124, 1997; JAAD
17:479–488, 1987; AD 114:755–760, 1978; Clin Genet
12:85–96, 1977; Am J Hum Genet 21:196–227, 1969; Am
J Dis Child 116:409–413, 1968; AD 94:687–694, 1966;
Am J Dis Child 88:754–758, 1954
Carcinoid syndrome 
JAAD 46:161–183, 2002
Chronic infantile neurological cutaneous articular syndrome
(CINCA) (Neonatal onset multisystem inflammatory disorder
(NOMID)) – urticarial rash at birth, arthropathy, uveitis, mental
retardation, short stature 
AD 136:431–433, 2000; J Pediatr
99:79–83, 1981; Eur J Ped 156:624–626, 1997
Ciliary neuralgia (cluster headaches) – conjunctival injection
and unilateral flushing
Cockayne’s syndrome
Costello syndrome 
JAAD 32:904–907, 1995
Degos’ disease
Dermochondrocorneal dystrophy (François syndrome)
AD 124:424–428, 1988
Down’s syndrome 
Ghatan p.174, 2002, Second Edition
Dyskeratosis benigna intraepithelialis mucosae et cutis
hereditaria – conjunctivitis, umbilicated keratotic nodules of
scrotum, buttocks, trunk; palmoplantar verruca-like lesions,
leukoplakia of buccal mucosa, hypertrophic gingivitis, tooth loss
J Cutan Pathol 5:105–115, 1978
Dyskeratosis congenita – lacrimal conjunctivitis
Ectrodactyly–ectodermal dysplasia–cleft lip/palate syndrome
(EEC syndrome) – keratoconjunctivitis 
Ped Derm 20:113–118,
2003; Am J Ophthalmol 78:211–216, 1974
Ectodermal dysplasia – autosomal recessive ectodermal
dysplasia with corkscrew hairs, pili torti, syndactyly, keratosis
pilaris, onychodysplasia, dental abnormalities, conjunctival
erythema, palmoplantar keratoderma, cleft lip or palate 
JAAD
27:917–921, 1992
Fabry’s disease – tortuous blood vessels of bulbar conjunctiva;
α
-galactosidase A deficiency 
AD 140:1440–1446, 2004
Familial histiocytic dermoarthritis – uveitis, arthritis
Floppy eyelid syndrome 
BJD 151:706, 2004
Granulomatous synovitis, uveitis and cranial neuropathies –
JABS syndrome 
J Pediatr 117:403–408, 1990
Hereditary mucoepithelial dysplasia (dyskeratosis) (Gap junction
disease, Witkop disease) (hereditary benign intra-epithelial
dyskeratoses (Witkop–von Sallmann syndrome) – conjunctivitis;
leukoplakia of buccal mucosa, lips, tongue in Haliwa–Saponi
Native Americans of North Carolina) – dry rough skin; red eyes,
non-scarring alopecia, keratosis pilaris, erythema of oral (hard
palate, gingival, tongue) and nasal mucous membranes, cervix,
vagina, and urethra; perineal and perigenital psoriasiform
Schneiderman page 100-200.qxd 5/16/2006 6:49 PM Page 199

---

dermatitis; increased risk of infections, fibrocystic lung disease
BJD 153:310–318, 2005; JAAD 45:634–636, 2001; Ped Derm
11:133–138, 1994; Am J Med Genet 39:338–341, 1991; JAAD
21:351–357, 1989; Am J Hum Genet 31:414–427, 1979; Oral
Surg Oral Med Oral Pathol 46:645–657, 1978; Arch Pathol
70:696–711, 1960
Hyper-IgE syndrome 
Ped Derm 9:410–413, 1992; vernal
conjunctivitis 
Ophthalmology 91:1213–1216, 1984
HID syndrome (hystrix-like ichthyosis with deafness) –
autosomal dominant; shark-skin appearance, sensorineural
deafness, spiky and cobblestoned hyperkeratosis, neonatal
erythroderma, scarring alopecia, occasional punctate keratitis;
probably variant of KID syndrome with mutation of connexin 26
(gap junction protein) 
BJD 146:938–942, 2002
Ichthyosis follicularis with atrichia and photophobia (IFAP) –
collodion membrane and erythema at birth; generalized
follicular keratoses, non-scarring alopecia, keratotic papules of
elbows, knees, fingers, extensor surfaces, xerosis; punctate
keratitis and corneal vascularization 
BJD 142:157–162, 2000;
AD 125:103–106, 1989; Dermatologica 177:341–347, 1988; Am
J Med Genet 85:365–368, 1999
Incontinentia pigmenti – iritis, uveitis 
JAAD 47:169–187, 2002;
Curr Prob Derm VII:143–198, 1995; AD 112:535–542, 1976
Job’s syndrome – chronic keratoconjunctivitis
Kawasaki’s disease – non-suppurative conjunctivitis; macular,
morbilliform, urticarial, scarlatiniform, erythema multiforme-like,
pustular, erythema marginatum-like exanthems; strawberry
tongue; cheilitis; edematous hands with lamellar desquamation;
myocarditis and coronary artery thrombosis and aneurysms;
arthralgia, arthritis 
JAAD 39:383–398, 1998; Jpn J Allergol
16:178–222, 1967
Keratosis–ichthyosis–deafness (KID) syndrome – reticulated
severe diffuse hyperkeratosis of palms and soles, well
marginated, serpiginous erythematous verrucous plaques,
perioral furrows, leukoplakia, sensory deafness, photophobia
with vascularizing keratitis, blindness 
JAAD 23:385–388, 1990;
AD 123:777–782, 1987; AD 117:285–289, 1981
Lipoid proteinosis 
JAAD 14:367–371, 1986
MAGIC syndrome – combination of relapsing polychondritis and
Behçet’s syndrome 
AD 126:940–944, 1990
Muckle–Wells syndrome – conjunctivitis, aching joints,
deafness, amyloid neuropathy, cold air urticaria 
BJD
151:99–104, 2004
Mucoepithelial dysplasia (gap junction disease) – simulates
candidal infection, dry rough skin, keratosis pilaris, thin scalp
hair, perleche, keratoconjunctivitis
Multiple mucosal neuroma syndrome (MEN IIB) (Gorlin’s
syndrome) – keratitis due to decreased tear production 
Can
J Ophthalmol 11:290–294, 1976; skin-colored papules and
nodules of lips, tongue, oral mucosa 
JAAD 36:296–300, 1997;
Oral Surg 51:516–523, 1981; J Pediatr 86:77–83, 1975; Am
J Med 31:163–166, 1961
Mulvihill–Smith syndrome – short stature, microcephaly,
unusual facies, multiple pigmented nevi, hypodontia,
immunodeficiency with chronic infections, high pitched voice,
progeroid, conjunctivitis, delayed puberty 
J Med Genet
31:707–711, 1994
Neurofibromatosis – congenital glaucoma with conjunctival
hyperemia 
Textbook of Neonatal Dermatology, p.484, 2001
Neutral lipid storage disease (Dorfman–Chanarin syndrome) 
–
autosomal recessive; at birth collodion baby or ichthyosiform
erythroderma; thereafter pattern resembles non-bullous
ichthyosiform erythroderma; hypohidrosis; ectropion;
palmoplantar hyperkeratosis, WBC vacuoles, myopathy, fatty
liver, CNS disease, deafness 
JAAD 17:801–808, 1987;
AD 121:1000–1008, 1985
Oligodontia, keratitis, skin ulceration, and arthroosteolysis 
Am J
Med Genet 15:205–210, 1983
Pseudoacromegaly – autosomal recessive; skin ulcers,
arthro-osteolysis, keratitis, oligodontia 
Am J Med Genet
15:205–210, 1983
Rapp–Hodgkin ectodermal dysplasia – congenital, autosomal
dominant, ectodermal dysplasia, distinctive craniofacial features,
cleft lip or palate and hypospadias in males; scalp dermatitis 
Ped
Derm 7:126–131, 1990; Ped Derm 14:149–150, 1997
Recalcitrant erythematous desquamating (RED) syndrome –
diffuse macular erythema, ocular and mucosal erythema,
strawberry tongue, delayed desquamation in the setting of AIDS
JAAD 39:383–398, 1998
Reiter’s syndrome – conjunctivitis, iritis, uveitis 
Ophthalmology
93:350–356, 1986; Ann Rheum Dis 38 (Suppl.):8–11, 1979
Relapsing polychondritis – scleritis 
Rook p.3006, 1998, Sixth
Edition; iritis, conjunctivitis, episcleritis Medicine 80:173–179,
2001; Eye and Skin Disease, pp.239–242, Lippincott, 1996;
Medicine 55:193–216, 1976; Arch Gen Med 14:29–34, 1869
Sjögren’s syndrome – keratoconjunctivitis sicca 
Rook p.2572,
1998, Sixth Edition
Spangler–Tappeiner syndrome
Sturge–Weber syndrome – episcleral telangiectasia with facial
nevus flammeus 
Eyelid and Conjunctival Tumors, Shields JA
and Shields CL, Lippincott Williams and Wilkins p.117, 1999;
congenital glaucoma with conjunctival hyperemia 
Textbook of
Neonatal Dermatology, p.484, 2001
Sweet’s syndrome – conjunctivitis, episcleritis, and inflammatory
glaucoma 
JAAD 40:331–334, 1999; J Rheumatol
23:1995–1998, 1996; JAAD 31:835–836, 1994; JAAD
31:535–556, 1994; BJD 76:349–356, 1964
Tumor necrosis factor (TNF) receptor 1-associated periodic
fever syndromes (TRAPS) (same as familial Hibernian fever,
autosomal dominant periodic fever with amyloidosis, and benign
autosomal dominant familial periodic fever) – erythematous
patches, tender red plaques, fever, annular, serpiginous,
polycyclic, reticulated, and migratory patches and plaques
(migrating from proximal to distal), urticaria-like lesions, lesions
resolving with ecchymoses, conjunctivitis, periorbital edema,
myalgia, arthralgia, abdominal pain, headache; Irish and
Scottish predominance; mutation in TNFRSF1A – gene
encoding 55 kDa TNF receptor 
AD 136:1487–1494, 2000
Tyrosinemia type II (Richner–Hanhart syndrome) – herpetiform
erosions and dendritic ulcers 
JAAD 35:857–859, 1997
Vogt–Koyanagi–Harada syndrome – granulomatous panuveitis
Eye and Skin Disease, pp.303–309, Lippincott, 1996
Wells’ syndrome – iritis 
Int J Dermatol 31:672, 1992
Wyburn–Mason syndrome (Bonnet–Duchaume–Blanc
syndrome) 
Xeroderma pigmentosum – conjunctivitis; acute sunburn,
persistent erythema, freckling – initially discrete, then fuse
to irregular patches of hyperpigmentation, dryness on
sun-exposed areas; with time telangiectasias and small
angiomas, atrophic white macules develop; vesiculobullous
lesions, superficial ulcers lead to scarring, ectropion; multiple
malignancies; photophobia, conjunctivitis, ectropion,
symblepharon, neurologic abnormalities 
BJD 152:545–551,
2005; Adv Genet 43:71–102, 2001; Hum Mutat 14:9–22, 1999;
Mol Med Today 5:86–94, 1999; Derm Surg 23:447–455, 1997;
Dermatol Clin 13:169–209, 1995; Recent Results Cancer Res
128:275–297, 1993; AD 123:241–250, 1987; Ann Intern Med
80:221–248, 1974; XP variant AD 128:1233–1237, 1992