Conradi–Hünermann syndrome –
hypochromic areas, linear
hyperkeratotic bands with diffuse erythema and scale, follicular
atrophoderma, scalp alopecia
Ped Derm 15:299–303, 1998;
AD 127:539–542, 1991
Cri du chat syndrome (chromosome 5, short arm deletion
syndrome) – premature graying of the hair, pre-auricular skin
tag with low-set malformed ears
J Pediatr 102:528–533, 1983
Cross–McKusick–Breen syndrome (oculocerebral syndrome
with hypopigmentation) – autosomal recessive; albino-like
hypopigmentation, microphthalmos, opaque cornea, nystagmus,
spasticity, mental retardation
J Pediatr 70:398–406, 1967
Crouzon’s syndrome – hypopigmentation in surgical scars
Ped Derm 13:18–21, 1996
Darier’s disease – leukoderma
Dermatology 188:157–159,
1994; unilateral Darier’s and guttate leukoderma JAAD
48:955–957, 2003
Deafness, vitiligo,
and muscle wasting of hands, feet, and legs
Arch Otolaryngol 93:194–197, 1971
Depigmented bilateral Blaschko hypertrichosis with dilated
follicular orifices and cerebral and ocular malformations
BJD 142:1204–1207, 2000
Down’s syndrome – hypopigmented hair; vitiligo
Ghatan p.69,
2002, Second Edition
Dyskeratosis congenita
Elejalde syndrome – autosomal recessive; silvery hair, profound
central nervous system dysfunction, normal immune function,
photo-hyperpigmentation (bronze coloration)
Ped Derm
21:479–482, 2004
Eosinophilic fasciitis
Epidermal nevus syndrome – hypochromic nevi
Ped Derm
6:316–320, 1989
Fanconi’s syndrome –
hypopigmented hair
Ghatan p.69, 2002,
Second Edition
Fisch’s syndrome – hypopigmented hair
Ghatan p.69, 2002,
Second Edition
Griscelli’s syndrome – silvery hair, eyelashes,
and eyebrows,
pigment dilution (partial albinism), and cellular and humoral
immunodeficiency, recurrent infections
Ped Derm 21:479–482,
2004; JAAD 38:295–300, 1998; Am J Med 65:691–702, 1978
Hallerman–Streiff syndrome – hypopigmented hair
Ghatan p.69,
2002, Second Edition
Hermansky–Pudlak syndrome – white skin and hair
AD 135:774–780, 1999; Am J Hematol 26:305–311, 1987;
Blood 14:162–169, 1959
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
Hypomelia, hypotrichosis, facial hemangioma syndrome
(pseudothalidomide syndrome) – sparse silvery blond hair
Am J Dis Child 123:602–606, 1972
Incontinentia pigmenti – anhidrotic and achromians lesions
BJD 116:839–849, 1987
MAUIE syndrome – erythroderma with skip areas; micropinnae,
alopecia, ichthyosis, and ectropion
JAAD 37:1000–1002, 1997
Menkes’ kinky hair syndrome – hypopigmented hair
Rook
p.2965, 1998, Sixth Edition
Mukamel syndrome – autosomal recessive; premature graying in
infancy, lentigines, depigmented macules,
mental retardation,
spastic paraparesis, microcephaly, scoliosis
Bolognia p.859, 2003
Multiple endocrine neoplasia syndrome type I – hypopigmented
macules
JAAD 42:939–969, 2000
Multiple lentigines syndrome – hypopigmented macules
Ped Derm 13:100–104, 1996
Myotonic dystrophy – hypopigmented hair
Ghatan p.70, 2002,
Second Edition
Neurofibromatosis – localized hypopigmented hair
Ghatan p.70,
2002, Second Edition
Oculocutaneous albinism
Dermatol Clin 6:217–228, 1988;
JAAD 19:217, 1988
Oculocutaneous albinism, dysmorphic features, short stature
Ophthalmic Paediatr Genet 11:209–213, 1990
Patau syndrome (trisomy 13) – depigmented spots
Rook p.2812, 1998, Sixth Edition
Phakomatosis pigmentovascularis – nevus anemicus
Ped Derm
13:33–35, 1996
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
Pierre–Robin syndrome – hypopigmented hair
Ghatan p.70,
2002, Second Edition
Prader–Willi syndrome – hypopigmentation, mental retardation
Am J Med Genet 40:454, 1991
Progeria – hypopigmented hair
Ghatan p.70, 2002,
Second Edition
Pseudocleft of upper lip, cleft lip-palate, and hemangiomatous
branchial cleft – canities
Plast Reconstr Surg 83:143–147, 1989
Robert’s 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
31:170–177, 1987; Clin Genet 5:1–16, 1974
Rothmund–Thomson syndrome – hypopigmented hair
Ghatan
p.70, 2002, Second Edition
Russell–Silver syndrome – achromia
JAAD 40:877–890, 1999;
J Med Genet 36:837–842, 1999
Seckel’s syndrome – autosomal recessive; hair sparse and
prematurely gray, growth retardation, beak-like nose, large eyes,
skeletal defects
Am J Med Genet 12:7–21, 1982
Symmetrical progressive leukopathy – Japan and Brazil;
punctate leukoderma on shins,
extensor arms, abdomen,
interscapular areas
Ann Dermatol Syphiligr 78:452–454, 1951
Tay syndrome – autosomal recessive; growth retardation,
triangular face, cirrhosis, trident hands, premature canities,
vitiligo
Bolognia p.859, 2003
Tietz’s syndrome – autosomal dominant; absence of pigment,
deaf-mutism, hypoplastic eyebrows
Rook p.2964, 1998, Sixth
Edition; Am J Hum Genet 15:259–264, 1963
Treacher Collins syndrome – hypopigmented hair
Ghatan
p.70, 2002, Second Edition
Tuberous sclerosis – ash leaf macules, confetti
hyopigmentation, white eyelashes, poliosis
Int J Dermatol
37:911–917, 1998; BJD 135:1–5, 1996; JAAD 32:915–935,
1995; Ped Clin North Am 38:991–1017, 1991; S Med J
75:227–228, 1982
Tuomaala–Haapanen syndrome (brachymetapody, anodontia,
hypotrichosis, albinoid trait)
Acta Ophthalmol 46:365–371, 1968
Tyrosinemia – hypopigmented hair
Ghatan p.70, 2002,
Second Edition
Unusual facies, vitiligo, canities, progressive spastic paraplegia
Am J Med Genet 9:351–357, 1981
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