Lethal multiple pterygium syndrome –
mid-facial macular
telangiectatic nevi
Am J Med Genet 12:377–409, 1982
Macrocephaly – cutis marmorata telangiectatica congenita
syndrome (macrocephaly, cutis marmorata, hemangioma, and
syndactyly syndrome) – macrocephaly, hypotonia,
hemihypertrophy, hemangioma, cutis marmorata telangiectatica
congenita, internal arteriovenous malformations, syndactyly,
joint laxity, hyperelastic skin,
thickened subcutaneous tissue,
developmental delay, short stature, hydroocephalus
Ped Derm
16:235–237, 1999; Genet Couns 9:245–253, 1998; Am J Med
Genet 70:67–73, 1997
Muckle–Wells syndrome – autosomal dominant; macular
erythema, urticaria, deafness, amyloidosis
JAAD 39:290–291,
1998
Mulibrey nanism – nevus flammeus, muscle hypotonia, triangular
face, thinness
JAAD 46:161–183, 2002; Birth Defects 11:3–17,
1975
NOMID – neonatal onset multisystem inflammatory disease –
generalized evanescent urticarial macules and papules
Textbook
of Neonatal Dermatology, p.302, 2001
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 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; Curr Prob Dermatol 13:249–300,
2002; J Dermatol 26:834–836, 1999; 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
Proteus syndrome – extensive truncal
and extremity port wine
stains, subcutaneous hemangiomas and lymphangiomas,
lymphangioma circumscriptum, hemihypertrophy of the face,
limbs, trunk; macrodactyly, cerebriform hypertrophy of palmar
and/or plantar surfaces, macrocephaly; verrucous epidermal
nevi, sebaceous nevi with hyper- or hypopigmentation
JAAD
52:834–838, 2005; Curr Prob Dermatol 13:249–300, 2002; Am
J Med Genet 27:99–117, 1987; vascular nevi, soft
subcutaneous masses; lipodystrophy, café au lait macules,
linear and whorled macular pigmentation
Pediatrics
76:984–989, 1985; Am J Med Genet 27:87–97, 1987; Eur J
Pediatr 140:5–12, 1983
Reflex sympathetic dystrophy – geometric marginated erythema
Cutis 68:179–182, 2001
Relapsing eosinophilic perimyositis – fever, fatigue, and
episodic
muscle swelling; erythema over swollen muscles
BJD 133:109–114, 1995
Relapsing polychondritis – mimicking infectious cellulitis
Ann
Intern Med 142:47–55, 2005; Semin Arthr Rheum 31:384–395,
2002
REM (reticular erythematous mucinosis) syndrome
JAAD
27:825–828, 1992; Ped Derm 7:1–10, 1990; Z Hautkr
63:986–998, 1988 (German); JAAD 19:859–868, 1988; AD
115:1340–1342, 1979; BJD 91:191–199, 1974; Z Hautkr
49:235–238, 1974
Riley–Day syndrome (familial dysautonomia) – red blotches
and mottling in infancy
Textbook of Neonatal Dermatology,
p.457, 2001
Robert’s pseudothalidomide syndrome (hypomelia-hypotrichosis-
facial hemangioma syndrome) – autosomal recessive; mid-facial
port wine stain extending from forehead to nose and philtrum,
cleft lip
with or without cleft palate, sparse silver-blond hair, limb
reduction malformation, characteristic facies, malformed ears
with hypoplastic lobules, marked growth retardation
Clin Genet
5:1–16, 1974; Clin Genet 31:170–177, 1987
Rubenstein–Taybi syndrome – arciform keloids, hypertrichosis,
long eyelashes, thick eyebrows, keratosis pilaris or ulerythema
ophyrogenes,
low-set ears, very short stature, broad terminal
phalanges of thumbs and great toes, hemangiomas, nevus
flammeus, café au lait macules, pilomatrixomas, cardiac
anomalies, mental retardation
Ped Derm 19:177–179, 2002;
Am J Dis Child 105:588–608, 1963; port wine stain of forehead
Rook p.581, 1998, Sixth Edition
Short arm 4 deletion syndrome – macular telangiectatic
vascular nevi
Am J Dis Child 122:421–425, 1971
TAR syndrome (thrombocytopenia–absent radii syndrome) –
congenital thrombocytopenia, bilateral
absent or hypoplastic
radii; foreshortened forearms, port wine stain of head and neck
AD 126:1520–1521, 1990; Am J Pediatr Hematol Oncol
10:51–64, 1988
Trisomy 13 – port wine stain of forehead
Rook p.581, 1998,
Sixth Edition; J Med Genet 5:227–252, 1968
Trisomy 18 – reticulate vascular nevus or port wine stain
J Pediatr 72:862–863, 1968
Von Hippel–Lindau disease – macular telangiectatic nevi, facial
or occipitocervical; retinal angiomatosis, cerebellar or medullary
or
spinal hemangioblastoma, renal cell carcinoma
pheochromocytoma, café au lait macules
Arch Intern Med
136:769–777, 1976
Wells’ syndrome
JAAD 52:187–189, 2005; NEJM 350:904–912,
2004; Trans St Johns Hosp Dermatol Soc 57:46–56, 1971
Wyburn–Mason (Bonnet–Duchaume–Blanc) syndrome –
unilateral salmon patch with punctate telangiectasias or port
wine stain; unilateral retinal arteriovenous malformation,
ipsilateral aneurysmal arteriovenous malformation of the brain
Am J Ophthalmol 75:224–291, 1973
XXYY syndrome – macular telangiectatic vascular nevi
AD 94:695–698, 1966
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