Kabuki makeup syndrome – blue sclerae
J Pediatr
105:849–850, 1984
Maffucci’s syndrome – deep venous malformations
Ped Derm
12:55–58, 1995
Marfan syndrome – blue sclerae; long extremities,
arachnodactyly, skeletal, ocular, cardiovascular defects
Rook
p.2030–2031, 1998, Sixth Edition; Int J Derm 28:291–299, 1989
Marshall–Smith syndrome
J Med Genet 17:174–178, 1980
Neurofibromatosis type I – blue–red macules
A 118:577–581,
1982; subungual glomus tumors JAAD 32:277–278, 1995
Niemann–Pick disease – mongolian spots of skin and oral
mucosa
Rook p.2644, 1998, Sixth Edition
Osteogenesis imperfecta (Cole–Carpenter syndrome) – blue
sclerae; thin fragile skin
J Pediatr 110:76–80, 1987; Trans
Ophthalmol Soc UK 104:191–195, 1985;J Med Genet
16:101–116, 1979; blue teeth JAAD 46:161–183, 2002
Phakomatosis pigmentokeratotica – speckled lentiginous
nevus in association with nevus sebaceous
Dermatology
197:377–380, 1998
Phakomatosis pigmentovascularis – port wine stain,
oculocutaneous (dermal and scleral) melanosis, CNS
manifestations; type I – PWS and linear epidermal nevus;
type II – PWS and dermal melanocytosis; type IIb – nevus
flammeus and aberrant mongolian spots
AD 129:340–342,
1993; type III – PWS and nevus spilus; type IV – PWS, dermal
melanocytosis, and nevus spilus; types II,III, and IV may also
have nevus anemicus
Ped Derm 21:642–645, 2004; J Dermatol
26:834–836, 1999; Ped Derm 15:321–323, 1998; Ped Derm
13:33–35, 1996; AD 121:651–653, 1985; Jpn J Dermatol
52:1–3, 1947; phakomatosis cesioflammea – Mongolian spots
or dermal melanocytosis with one or more port wine stains
AD 141:385–388, 2005; phakomatosis cesiomarmorata –
Mongolian spot and cutis marmorata telangiectatica congenita
AD 141:385–388, 2005
POEMS syndrome – cutaneous angiomas, blue dermal papules
associated with Castleman’s disease (benign reactive
angioendotheliomatosis), diffuse hyperpigmentation,
morphea-like changes, maculopapular brown-violaceous
lesions, purple nodules
JAAD 44:324–329, 2001; JAAD
40:808–812, 1999; Cutis 61:329–334, 1998; JAAD
21:1061–1068, 1989; AD 124:695–698, 1988;JAAD
12:961–964, 1985
Pseudoxanthoma elasticum – blue sclerae
AD 124:1559, 1988;
JAAD 42:324–328, 2000; Dermatology 199:3–7, 1999
Roberts–pseudothalidomide syndrome – blue sclerae
Hum
Genet 61:372–374, 1982
Russel–Silver syndrome – blue sclerae; café au lait macules,
short immature bones, triangular facies
Ghatan p.201, 2002,
Second Edition; JAAD 40:877–890, 1999; J Med Genet
36:837–842, 1999
Spondyloepimetaphyseal dysplasia with joint laxity – blue
sclerae
Skel Radiol 5:205–212, 1980
Steatocystoma multiplex
Turner’s syndrome – blue sclerae
JAAD 36:1002–1004, 1996
TRAUMA
Chilblains
IVDA – skin popping; intravenous drugs
Radiation – post-radiation angiosarcoma
Rectus sheath hematoma of abdomen
Ritualistic behavior (cupping)
Subungual hematoma
Traumatic tattoos
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