Basaloid follicular hamartoma syndrome (generalized basaloid
follicular hamartoma syndrome) –
autosomal dominant;
hypotrichosis, multiple skin-colored, red and hyperpigmented
papules of the face, neck, chest, back, proximal extremities and
eyelids; syndrome includes milia-like cysts, comedone-like
lesions, dermatosis papulosa nigra, skin tag-like lesions, sparse
scalp hair, palmar pits, and parallel bands of papules of the neck
(zebra stripes)
JAAD 49:698–705, 2003; BJD 146:1068–1070,
2002; JAAD 45:644–645, 2001; JAAD 43:189–206, 2000
Basan syndrome (ectodermal dysplasia) – sparse coarse scalp
hair, hypohidrosis, nail dystrophy, abnormal dermatoglyphics,
dental abnormalities
Arch Klin Exp Dermatol 222:546–557,
1965
Bazex–Dupre–Christol syndrome (X-linked dominant) –
milia and comedo-like papules, hypotrichosis, follicular
atrophoderma, anhidrosis,
X-linked dominant
AD 130:337–342,
1994; Ped Derm 16:108–110, 1999; Ann Dermatol Syphilgr
(Paris) 93:241–254, 1966
Bazex–Dupre–Christol-like syndrome – basal cell carcinomas,
hypohidrosis, hypotrichosis, milia
Derm Surg 26:152–154, 2000
Berlin syndrome – no vellus hairs; mottled pigmentation and
leukoderma, flat saddle nose, thick lips, fine wrinkling around
the eyes and mouth (similar to Christ–Siemens ectodermal
dysplasia); stunted growth, bird-like legs, mental retardation
Dermatologica 123:227–243, 1961
Bjornstad syndrome (Crandall syndrome) – pili torti,
sensorineural deafness
JAAD 46:301–303, 2002; Ped Derm
16:220–221, 1999; chromosome 2q34–36 Am J Hum Genet
62:1107–1112, 1998; Crandall’s syndrome – pili torti,
sensorineural deafness, hypogonadism
JAAD 46:301–303,
2002; J Pediatr 82:461–465, 1973
Brachymetapody syndrome (Tuomaala–Haapanen syndrome)
(brachymetapody, anodontia, hypotrichosis, albinoid trait) – albinoid
skin –
short stature, shortening of all digits but thumbs, hypoplastic
maxilla, anodontia, hypotrichosis, hypoplastic breasts and genitalia,
strabismus, distichiasis
Acta Ophthalmol 46:365–371, 1968
Brown–Crounse syndrome – 1–2-mm papules, plaques
and nodules, diffuse hypotrichosis resembling alopecia areata,
basaloid follicular hamartomas, trichoepitheliomas, myasthenia
gravis
AD 99:478–493, 1969
Buschke–Ollendorf syndrome – annular plaque with broken
hairs
JAAD 24:822–824, 1991
Calcitriol-resistant rickets with alopecia
Cardio-facio-cutaneous syndrome (Noonan-like short stature
syndrome) (NS) – xerosis/ichthyosis, eczematous
dermatitis,
growth failure, hyperkeratotic papules, ulerythema ophyrogenes,
seborrheic dermatitis, CALMs, nevi, keratosis pilaris, autosomal
dominant, patchy or widespread ichthyosiform eruption, sparse
curly short scalp hair and eyebrows and lashes, hemangiomas,
acanthosis nigricans, congenital lymphedema of the hands,
redundant skin of the hands, short stature, abnormal facies,
cardiac defects
JAAD 46:161–183, 2002; Ped Derm 17:231–234,
2000; JAAD 22:920–922, 1990; JAAD 28:815–819, 1993; AD
129:46–47, 1993; port wine stain Clin Genet 42:206–209, 1992
Cartilage–hair hypoplasia (metaphyseal chondrodysplasia of
McKusick) – dwarfism; short, sparse, lightly colored hair; some
with total baldness; immune defects
Eur J Pediatr 155:286–290,
1996; Eur J Pediatr 142:211–217, 1993; Am J Med Genet
41:371–380, 1991; Bull Johns Hopkins Hosp 116:285–326, 1965
Cataracts, alopecia, and sclerodactyly – ectodermal
dysplasia syndrome
on the island of Rodrigues
Am J Med
Genet 32:500–532, 1989
CHILD syndrome (hemidysplasia, ichthyosiform erythroderma,
unilateral limb defects (hypoplasia)) – X-linked dominant;
unilateral alopecia; unilateral inflammatory epidermal nevus or
unilateral ichthyosiform erythroderma with skeletal
abnormalities
AD 123:503–509, 1987
Chondroectodermal dysplasia (Ellis van Creveld syndrome) –
autosomal recessive; chondrodysplasia, polydactyly, short arms
and legs, teeth small and defective, nails dystrophic, hair normal
or sparse and brittle; scant or fine hair
JAAD 46:161–183, 2002;
Ped Derm 18:68–70, 2001; J Med Genet 17:349–356, 1980
Ciliary and superciliary hypotrichosis
Cleft lip–palate with ectoderma dysplasia with syndactyly
Cockayne syndrome – sparse dry hair in infancy and early
childhood
Ped Derm 20:538–540, 2003; Textbook of Neonatal
Dermatology, p.493, 2001
Coffin–Siris syndrome – autosomal dominant; coarse
facial
features, sparse scalp hair, bushy eyebrows, absent fifth fingernails
and toenails, short distal phalanges, lax joints, delayed eruption of
small teeth; microcephaly, retarded growth, skeletal abnormalities
Clin Genet 26:374–378, 1984; Am J Dis Child 119:433–439, 1970
Complete testicular feminization syndrome – hairless women
NEJM 302:198–209, 1980
Conradi–Hünermann syndrome (S) (chondrodysplasia
punctata) – sparse coarse lusterless hair or circumscribed
cicatricial scalp alopecia, linear hyperkeratotic bands with
diffuse erythema and scale, systematized follicular
atrophoderma, hypochromic areas
Ped Derm 19:226, 2002;
Ped Derm 15:299–303, 1998; AD 127:539–542, 1991;
congenital ichthyosiform erythroderma
Hum Genet 53:65–73,
1979; X-linked dominant Conradi–Hünermann
syndrome
JAAD 21:248–256, 1989
Costello syndrome – warty papules around nose and mouth,
legs, perianal skin; loose skin of neck, hands and feet; acanthosis
nigricans; low-set protuberant ears, thick palmoplantar surfaces
with single palmar crease, gingival hyperplasia, hypoplastic nails,
moderately short stature, craniofacial abnormalities,
hyperextensible fingers, sparse curly hair, perianal and vulvar
papules, diffuse hyperpigmentation, generalized hypertrichosis,
multiple nevi, short limbs, failure to thrive
Ped Derm 20:447–450,
2003; Textbook
of Neonatal Dermatology, p.460, 2001; JAAD
32:904–907, 1995; Aust Paediatr J 13:114–118, 1977
Cranio-ectodermal dysplasia – short, fine hair, craniofacial
abnormalities
Birth Defects XI:372–379, 1975
Craniofaciocutaneous syndrome – ulerythema ophryogenes
Cronkhite–Canada syndrome – lentigo-like macules of face and
extremities, and diffuse pigmentation of palms; gastrointestinal
polyposis, malabsorption, alopecia, dystrophic nails
AD
135:212, 1999; Cutis 61:229–232, 1998
De Barsy syndrome – sparse hair, thin skin, cutis laxa-like
changes, pinched nose
Dermatopathia pigmentosa reticularis – autosomal dominant;
reticulate pigmentation, alopecia, nail changes, palmoplantar
hyperkeratosis,
loss of dermatoglyphics
JAAD 26:298–301, 1992;
AD 126:935–939, 1990
Dermo-odonto-dysplasia – autosomal dominant; dry skin,
small teeth, dysplastic brittle nails, slow growing hair; hair thin
with alopecia of vertex
Ped Derm 19:226, 2002; Clin Genet
24:58–68, 1983
Dermotrichic syndrome – X-linked recessive, congenital atrichia,
ichthyosis, hypohidrosis
Am J Med Genet 44:233–236, 1992
Dorfman–Chanarin syndrome (neutral lipid storage disease) –
cicatricial alopecia
AD 110:261–266, 1974; total alopecia
BJD 144:430–432, 2001
Down’s syndrome – high incidence of alopecia areata
Br Med J 1:191–194, 1975; fine sparse hair Ghatan p.242,
2002, Second Edition
Dubowitz syndrome – autosomal recessive, erythema and
scaling of face and extremities in infancy, sparse blond scalp
and eyebrow hair, high-pitched hoarse voice,
delayed eruption
of teeth, growth retardation, craniofacial abnormalities
Am J Med
Genet 63:277–289, 1996; Am J Med Genet 47:959–964, 1993
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