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SYNDROMES
Bart’s syndrome – congenital localized absence of skin with
dominant dystrophic epidermolysis bullosa
Ped Derm
17:179–182, 2000
Brooke–Spiegler syndrome – linear papular eruption of eccrine
spiradenomas
Australas J Dermatol 44:144–148, 2003
CHILD syndrome (hemidysplasia, ichthyosiform erythroderma,
unilateral limb defects (hypoplasia)) – X-linked dominant;
unilateral inflammatory epidermal nevus or unilateral
ichthyosiform erythroderma with skeletal abnormalities
AD 123:503–509, 1987
Chimerism (human chimera) – Blaschko hyperpigmentation
Bolognia p.873, 2003; Textbook of Neonatal Dermatology,
p.376, 2001; Curr Prob Derm VII:143–198, 1995;
BJD 103:489–498, 1980
Chromosomal mosaicism (segmental hypermelanosis)
Textbook
of Neonatal Dermatology, p.376–377, 2001; Curr Prob Derm
VII:143–198, 1995
Conradi–Hünermann syndrome (chondrodysplasia punctata –
X-linked dominant) – follicular atrophoderma in Blaschko
distribution
– X-linked Curr Prob Derm VII:143–198, 1995;
AD 121:1064–1065, 1985; ichthyotic and psoriasiform lesions
(Blaschko hyperkeratotic scaling), nail defects, cicatricial
alopecia, follicular pitted scars, skeletal anomalies
JAAD
33:356–360, 1995; Hum Genet 53:65–73, 1979
Depigmented hypertrichosis with dilated follicular pores,
short stature, scoliosis, short broad feet, macrocephaly,
dysmorphic facies, supernumery nipple, and mental retardation
(cerebral-ocular malformations)
BJD 142:1204–1207, 2000
Ectodermal dysplasia with immune deficiency
Bolognia
p.873, 2003
Encephalo-cranio-cutaneous lipomotosis
Bolognia p.873, 2003
Focal dermal hypoplasia, morning glory anomaly, and
polymicrogyria – swirling pattern of hypopigmentation,
papular hypopigmented and herniated skin lesions of face,
head, hands, and feet, basaloid follicular hamartomas, mild
mental retardation, macrocephaly, microphthalmia, unilateral
morning glory optic disc anomaly, palmar and lip pits, and
polysyndactyly
Am J Med Genet 124A:202–208, 2004
Franceschetti–Jadassohn syndrome
Goltz’s syndrome (focal dermal hypoplasia)
JAAD 44:612–615,
2001; JAAD 28:86–89, 1993
Happle syndrome (X-linked chondrodysplasia punctata) –
scalp dermatitis at birth; Blaschko hyperkeratoses, follicular
atrophoderma, cicatricial alopecia
Ped Derm 18:442–444,
2001; whorled ichthyosis Ped Derm 13:1–4, 1996
Hypohidrotic ectodermal dysplasia – X-linked anhidrotic
ectodermal dysplasia – female carrier or post-zygotic mutation
in a male
AD 136:217–224, 2000; Clin Genet 27:468–471, 1985
Hypomelanosis of Ito (incontinentia pigmenti achromians) –
whorled depigmented patches in Blaschko pattern; associated
musculoskeletal, teeth, eye, and central nervous system
abnormalities
Ped Derm 19:536–540, 2002; Indian J Ped
63:573–575, 1996; JID 103:141S-143S, 1994; JAAD
19:217–255, 1988; AD 119:391–395, 1983; J Pediatr
90:236–240, 1977; Jpn J Dermatol 61:31–32, 1951
Hypophosphatemic vitamin D-resistant rickets, precocious
puberty, and epidermal nevus syndrome
AD 133:1557–1561,
1997
Ichthyosis follicularis with atrichia and photophobia (IFAP)
syndrome – linear lesions in heterozygous women
Am J Med
Genet 85:365–368, 1999
Incontinentia pigmenti – X-linked dominant
AD 139:1163–1170,
2003; JAAD 47:169–187, 2002; Ped Derm 19:550–552, 2002;
Curr Prob Derm VII:143–198, 1995; involvement of NF-kappaB
signalling
Cell Signal 15:1–7, 2003
Killian–Teschler–Nicola syndrome (tetrasomy 12p) – Blaschko
hyperpigmentation – coarse facial features (prominent forehead,
flat broad nasal root with short nose, anteverted nostrils,
chubby cheeks, long philtrum, protruding lower lip, large
low-set ears with thick lobules), localized alopecia, streaks of
hyper, and hypopigmentation, mental retardation
Ped Derm
17:151–153, 2000
Maffucci’s syndrome
McCune–Albright’s syndrome – melanotic macules in Blaschko’s
lines
BJD 130:215–220, 1994; Int J Derm 23:370–375, 1984
Menke’s kinky hair syndrome – female carrier – X-linked
recessive
Bolognia p.873, 2003
MIDAS syndrome – atrophic Blaschko linear scars of face and
neck; linear red atrophic skin (resembles aplasia cutis);
microphthalmia, sclerocornea
JAAD 44:612–615, 2001;
Textbook of Neonatal Dermatology, p.466–467, 2001;
Am J Med Genet 49:229–234, 1994
Mosaicism
AD 129:1460–1470, 1993; Am J Hum Genet
45:193–205, 1989
Neurofibromatosis, segmental (type V)
Bolognia p.873, 2003
Nevoid basal cell carcinoma syndrome, including unilateral
nevoid basal cell carcinoma syndrome
Bolognia p.873, 2003
Nevus comedonicus syndrome
Nevus sebaceus syndrome (Schimmelpenning syndrome)
Oculo-cerebro-cutaneous syndrome
Bolognia p.873, 2003
Oral–facial–digital syndrome – X-linked dominant oral–facial–
digital syndrome – hairless streaks along Blaschko’s lines
Am
J Med Genet 85:324–329, 1999; Ped Derm 16:367–370, 1999
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