Niemann–Pick disease –
autosomal recessive;
sphingomyelinase deficiency; indurated hyperpigmented
patches of cheeks
Am J Dis Child 136:650–651, 1982
Noonan’s syndrome – early onset stasis dermatitis
Pallister–Killian syndrome – i (12p) (tetrasomy 12p); tissue
mosaicism; pigmentary mosaicism and localized alopecia
Ped Derm 22:270–275, 2005
Parry–Romberg syndrome
Ped Derm 21:48–50, 2004;
JAAD 22:531–533, 1990
Peutz–Jeghers syndrome – lentigines; brown pigmented bands
of nails
Ghatan p.78, 2002, Second Edition
Phakomatosis pigmentokeratotica – coexistence of an organoid
nevus (epidermal nevus) and a contralateral segmental
lentiginous or papular
speckled lentiginous nevus
Dermatology
194:77–79, 1997
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 (Mongolian spot);
type III – PWS and nevus spilus; type IV – PWS, dermal
melanocytosis, and nevus spilus
J Dermatol 26:834–836,
1999; AD 121:651–653, 1985
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
POEMS syndrome (Takatsuki syndrome, Crowe–Fukase
syndrome) – generalized or patchy hyperpigmentation,
osteosclerotic bone lesions, peripheral polyneuropathy,
hypothyroidism, and hypogonadism
JAAD 40:507–535, 1999;
Cutis 61:329–334, 1998; JAAD 21:1061–1068, 1989
Prader–Willi syndrome – hypopigmentation, mental retardation
Am J Med Genet 40:454, 1991
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
Punctate acrokeratoderma with pigmentary disorder
BJD 128:693–695, 1993
Reticulate acropigmentation of Dohi
Reticulate acropigmentation of Kitamura
Rosai–Dorfman syndrome –
hyperpigmented plaques
BJD 145:323–326, 2001
Rothmund–Thomson syndrome
AD 75:236–244, 1957
Russel–Silver syndrome
Tay syndrome
Ghatan p.6, 2002, Second Edition
Tricho-odonto onycho-ectodermal dysplasia (linear dermal
hypoplasia) – hypotrichosis, hypodontia, focal linear dermal
hypoplasia of the tip of the nose, irregular hyperpigmentation
of the back, bilateral amastia and athelia,
nerve hearing loss
AD 122:1047–1053, 1986
Trichothiodystrophy syndromes – BIDS, IBIDS, PIBIDS –
hyperpigmented eyelids, poikiloderma, sparse or absent
eyelashes and eyebrows, brittle hair, premature aging, sexual
immaturity, ichthyosis, dysmyelination, bird-like facies, dental
caries; trichothiodystrophy with ichthyosis, urologic
malformations, hypercalciuria
and mental and physical
retardation
JAAD 44:891–920, 2001; Ped Derm 14:441–445,
1997
Trisomy 14 mosaicism syndrome – patchy reticulated
hyperpigmentation resembling that of incontinentia pigmenti
Syndromes of the Head and Neck, p.89, 1990
Unusual facies, vitiligo, canities, and progressive spastic
paraplegia – hyperpigmentation of exposed areas
Am J Med
Genet 9:351–357, 1981
Werner’s syndrome
Winchester syndrome
Xeroderma pigmentosum – 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 (basal cell carcinoma,
squamous cell carcinoma, keratoacanthoma, melanoma);
photophobia, conjunctivitis, ectropion, symblepharon, neurologic
abnormalities
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
TOXINS
Arsenic – macular bronze pigmentation of the trunk; stippled
hyper and hypopigmentation
JAAD 39:524–525, 1998;
JAAD 38:179–185, 1998; brown nails Ghatan p.78, 2002,
Second Edition, darkening of hair BJD 146:325–329, 2002;
paronychial hyperpigmentation with arsenic poisoning at
3 months
BJD 149:757–762, 2003
Lead – lead line of gums; pallor and lividity
Rook p.1794, 1998,
Sixth Edition
Mustard gas exposure
AD 129:245, 1993
PCB exposure – brown-gray nails
Textbook of Neonatal
Dermatology, p.513, 2001
TRAUMA
Biting of buccal mucosa – symmetric hyperpigmentation of chin
BJD 82:40–41, 1970
Chewing
trauma in mentally disabled
Arch Dermatol Syphilol
65:458–463, 1952
Electron beam – darkening of hair
BJD 146:325–329, 2002
Frictional hyperpigmentation
JAAD 42:442–445, 2000
Intravenous drug abuse
BJD 150:1–10, 2004
Nails – physical trauma, habit tic deformity, radiation
Ghatan
p.78, 2002, Second Edition
Radiation dermatitis, acute
Acta DV 49:64–71, 1969
Sympathectomy, surgical – localized hyperpigmentation
Clin
Exp Dermatol 5:349–350, 1980
Do'stlaringiz bilan baham: 
