Hypomelanosis of Ito (incontinentia pigmenti achromians) –
whorled depigmented patches in Blaschko pattern; associated
musculoskeletal, teeth, eye, and central nervous system
abnormalities
JAAD 19:217–255, 1988
Incontinentia pigmenti – stage IV – hypopigmented streaks
on the legs of women; achromic and anhidrotic areas
JAAD 47:169–187, 2002; BJD 116:839–849, 1987
Klein–Waardenburg syndrome
Menkes’ kinky hair syndrome – silvery hair, generalized
hypopigmentation, lax skin of brows, neck, and thighs
Ped Derm
15:137–139, 1998; carrier state with hypopigmented swirls and
streaks
Multiple endocrine neoplasia syndrome (MEN I) – confetti-like
hypopigmentation
AD 133:853–857, 1997
Occipital white lock of hair
Oculocerebral hypopigmentation syndrome of Preus
Oculocutaneous albinism
Tyrosinase negative
Yellow mutant
Platinum
Tyrosinase positive
Minimal
Brown
Rufous
Hermansky–Pudlak
Ped Derm 15:374–377, 1998
Chediak–Higashi
Autosomal dominant
Osteopathia striata with pigmentary dermopathy including white
forelock
Pallister–Killian syndrome (mosaic tetrasomy 12p)
J Clin Dysmorphol 1:2–3, 1983
Palmoplantar keratoderma, large ears, sparse hypopigmented
scalp hair, frontal bossing
Ped Derm 19:224–228, 2002
Parry–Romberg syndrome
Ped Derm 21:48–50, 2004;
JAAD 22:531–533, 1990
Phylloid hypomelanosis (Happle) – leaf-shaped lesions;
trisomy 13; mental retardation, hearing loss, craniofacial
defects, skeletal abnormalities
Am J Med Genet 85:324–329,
1999; Ped Derm 14:278–280, 1997
Piebaldism – autosomal dominant; white forelock, white patches
on upper chest, abdomen, extremities with islands of
hyperpigmentation within
JAAD 44:288–292, 2001; mutations
and deletions of
c-kit (steel factor receptor) Am J Hum Genet
56:58–66, 1995
Piebaldism and Hirschsprung’s disease
Piebald trait with neurologic defects
POEMS syndrome
AD 123:85–87, 1987
Prader–Willi syndrome – albinoid skin
Growth Genet Hormones
2:1–5, 1986
Progeria – premature canities
Ghatan p.296, 2002, Second
Edition
Progressive spastic parapesis, vitiligo, premature graying, and
distinct facial appearance
Proteus syndrome – 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
Am J Med Genet
27:99–117, 1987; vascular nevi, soft subcutaneous masses;
lipodystrophy, café au lait macules, linear and whorled macular
pigmentation
Am J Med Genet 27:87–97, 1987; Pediatrics
76:984–989, 1985; Eur J Pediatr 140:5–12, 1983
Rapp–Hodgkin hypohidrotic ectodermal dysplasia – autosomal
dominant; alopecia of wide area of scalp in frontal to crown
area, short eyebrows and eyelashes, coarse wiry sparse
hypopigmented scalp hair, sparse body hair, scalp dermatitis,
ankyloblepharon, syndactyly, nipple anomalies, cleft lip and/or
palate; nails narrow and dystrophic, small stature, hypospadius,
conical teeth and anodontia or hypodontia; distinctive facies,
short stature
JAAD 53:729–735, 2005; Ped Derm 7:126–131,
1990; J Med Genet 15:269–272, 1968
Ring chromosome 13 syndrome – arciform hypopigmentation
Rothmund–Thomson syndrome
Rozycki syndrome
Symmetrical progressive leukopathy – Japan and Brazil;
punctate leukoderma on shins, extensor arms, abdomen,
interscapular areas
Ann Dermatol Syphiligr 78:452–454, 1951
Tietz’s syndrome – autosomal dominant; absence of pigment
(generalized hypopigmentation), deaf–mutism, hypoplastic
eyebrows
Cutis 73:45–46, 2004; Am J Hum Genet 15:259–264,
1963
Triploidy syndromes
Syndromes of the Head and Neck, p.64,
1990
Tuberous sclerosis – ash leaf macules, confetti
hyopigmentation, white eyelashes
Textbook of Neonatal
Dermatology, p.363, 2001; Int J Dermatol 37:911–917, 1998;
JAAD 32:915–935, 1995; S Med J 75:227–228, 1982
Vici syndrome – agenesis of corpus callosum, cleft lip,
cutaneous hypopigmentation, cataracts
Am J Med Genet
66:378–398, 1996
Vogt–Koyanagi–Harada syndrome – occurs primarily in Asians,
blacks, and darkly pigmented Causians; Stage 1 – aseptic
meningitis; Stage 2 – uveitis (iritis, iridocyclitis) and dysacusis
(tinnitus, hearing loss); Stage 3 – depigmentation of skin (60% of
patients), depigmentation of hair (poliosis – eyelashes, eyebrows,
scalp, and body hair – 90% of patients), alopecia areata; halo
nevi
Ann DV 127:282–284, 2000; AD 88:146–149, 1980
Waardenburg syndrome
Am J Med Genet 6:99–100, 1980
Werner’s syndrome
Woolf syndrome – piebaldism with congenital nerve deafness
Arch Otolaryngol 82:244–250, 1965
Xeroderma pigmentosum
X-linked reticulate pigmentary disorder with systemic
manifestations (familial cutaneous amyloidosis) (Partington
syndrome II) – X-linked; rare; Xp21–22; boys with generalized
reticulated muddy brown pigmentation (dyschromatosis) with
silvery hair, hypopigmented corneal dystrophy (dyskeratosis),
coarse unruly hair, unswept eyebrows, hypohidrosis, recurrent
pneumonia with chronic obstructive disease, clubbing; failure to
thrive, female carriers with linear macular nevoid Blascko-esque
hyperpigmentation
Ped Derm 22:122–126, 2005; Semin Cut
Med Surg 16:72–80, 1997; Am J Med Gen 10:65:1981
Ziprkowski–Margolis syndrome – piebald-type
hypopigmentation, deaf–mutism, heterochromic irides
Textbook
of Neonatal Dermatology, p.365, 2001; AD 86:530–539, 1962
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