Multiple follicular hamartomas with sweat gland and sebaceous
differentiation, vermiculate atrophoderma, milia, hypotrichosis
and late development of basal cell carcinomas
JAAD
39:853–857, 1998
Myotonic dystrophy – frontal balding – muscle wasting,
weakness, cataracts, expressionless face, testicular atrophy
JAAD 37:268–269, 1997
Netherton’s syndrome – trichorrhexis invaginata (bamboo hair) –
increased hair fragility with crewcut appearance
AD 135:823–832,
1999; BJD 141:1097–1100, 1999; Ped Derm 14:473–476, 1997;
Ped Derm 13:183–199, 1996; BJD 131:615–619, 1994; Ped Derm
9:158–160, 1992; AD 78:483–487, 1958
Neutral lipid storage disease (Chanarin–Dorfman disease) –
autosomal recessive; focal or diffuse alopecia; congenital non-
bullous ichthyosiform erythroderma, collodion baby; seborrheic
dermatitis-like
rash of face and scalp; leukonychia;
erythrokeratoderma variabilis-like presentation; mutation in
ABHD5 which encodes protein of esterase/lipase/thioesterase
subfamily
BJD 153:838–841, 2005
Noonan’s syndrome – webbed neck, short stature, malformed
ears, nevi, keloids, transient lymphedema, ulerythema
ophyrogenes, keratosis follicularis spinulosa decalvans
JAAD 46:161–183, 2002; Rook p.3016, 1998, Sixth Edition;
Ped Derm 15:18–22, 1998; J Med Genet 24:9–13, 1987
Oculo-auricular vertebral syndrome – epibulbar dermoid tumors,
abnormal hair, short neck
Ped Derm 20:182–184, 2003
Oculo-dento-osseous (oculo-dento-digital) dysplasia – sparse
scalp hair, eyebrows and eyelashes sparse or absent, small
closely set sunken eyes, small mouth,
enamel hypoplasia
producing yellow teeth, syndactyly, camptodactyly, iris
anomalies, hypertelorism
J Pediatr 63:69–75, 1963
Oculo-osteocutaneous syndrome – sparse, fair hair, limb and
digit abnormalities, hypoplastic nipples, abnormal genitalia
Ped
Derm 19:226, 2002
Odonto-onycho-dermal dysplasia – telangiectatic atrophic patches
of face, sparse hair, conical teeth, hyperkeratosis of palms and
soles, dystrophic nails
Am J Med Genet 14:335–346, 1983
Odonto-onychodysplasia with alopecia –
small widely spaced
teeth, brittle fingernails, supernumerary nipples, palmoplantar
hyperkeratosis
Cien Cult 33 (Suppl):696, 1981
Odonto-trichomelic syndrome – autosomal recessive; severe
hypotrichosis, few small conical teeth, hypoplastic or absent
areolae, cleft lip, tetramelic dysplasia, short stature
Hum
Hered 22:91–95, 1972
Olmsted syndrome – diffuse alopecia or sparse hair anteriorly
JAAD 5F3:s266–272, 2005; Ped Derm 21:603–605, 2004; Ped
Derm 20:323–326, 2003; BJD 136:935–938, 1997; AD
132:797–800, 1996; AD 131:738–739, 1995; Semin Dermatol
14:145–151, 1995; JAAD 10:600–610, 1984; Am J Dis Child
33:757–764, 1927
Omenn syndrome – alopecia of scalp and eyebrows; erythroderma
Ped Derm 17:91–96, 2000; Ped Derm 14:49–52, 1997
Onycho-trichodysplasia with chronic neutropenia
Birth
Defects
11:63–66, 1975
Oral–facial–digital syndrome type I (Papillon–Leage syndrome) –
short upper lip, hypoplastic alanasi, hooked pug nose,
hypertrophied labial frenulae, bifid or multilobed tongue with small
tumors within clefts, clefting of hard and soft palate, teeth widely
spaced, trident hand or brachydactyly, syndactyly, or polydactyly;
hair dry and brittle, diffuse alopecia, numerous milia of face, ears,
backs
of hands, mental retardation
Ped Derm 9:52–56, 1992
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
Pachyonychia congenita – occasional sparse scalp hair
Ped Derm
19:226, 2002; Am J Dermatopathol 19:180–184, 1997
Pallister–Killian syndrome – i (12p) (tetrasomy 12p); tissue
mosaicism; pigmentary mosaicism and localized alopecia
Ped Derm 22:270–275, 2005
Palmoplantar keratoderma (PPK) with atrichia/hypotrichosis
Atrichia, PPK (Bazex-like), mental retardation, and early loss
of teeth
Ped Derm 19:226, 2002; JAAD 30:89–898, 1994
Alopecia congenita with keratosis palmoplantaris
Act Genet
Statis Med 9:127–132, 1959
Clouston syndrome
Can Med Assoc J 40:1–7, 1939
Fitzsimmons syndrome
Clin Genet 23:329–335, 1983
Schopf syndrome
Birth Defects 7:219–221 1971
Richner Hanhart syndrome
Olmsted syndrome
Alopecia, onychodysplasia, hypohidrosis, deafness
Hum Hered 27:127–133, 1977
Hereditary PPK,
congenital alopecia, onychodystrophy,
enamel dysplasia
Hautarzt 25:8–16, 1970
Hereditary focal transgressive palmoplantar keratoderma –
autosomal recessive; hyperkeratotic lichenoid papules of
elbows and knees, psoriasiform lesions of scalp and groin,
spotty and reticulate hyperpigmentation of face, trunk, and
extremities, alopecia of eyebrows and eyelashes
BJD
146:490–494, 2002
PPK, hypotrichosis, leukonychia totalis
BJD 133:636–638, 1995
Punctate palmoplantar keratoderma – fine scalp hair
Ped Derm
19:226, 2002
Keratoderma, hypotrichosis, and leukonychia totalis – dry,
brittle, sparse hair
Ped Derm 19:226, 2002
Palmoplantar keratoderma,
large ears, sparse hypopigmented
scalp hair, frontal bossing
Ped Derm 19:224–228, 2002
Papillon–Lefevre syndrome
Pili torti, acne conglobata, early-onset cataracts
BJD 91
(Suppl 10):54–57, 1974
Pili torti, defective teeth, webbed fingers
JAAD 46:301–303, 2002
POEMS syndrome (Takatsuki syndrome, Crowe–Fukase
syndrome) – osteosclerotic bone lesions, peripheral
polyneuropathy, hypothyroidism and hypogonadism
JAAD
21:1061–1068, 1989; Cutis 61:329–334, 1998; cicatricial
alopecia with underlying plasmacytoma
JAAD 40:808–812, 1999
Poland’s chest wall deformity – breast and pectoralis
muscle hypoplasia; absence
of axillary hair, ipsilateral
syndactyly, dermatoglyphic abnormalities
Plast Reconstr
Surg 99:429–436, 1997
Polycystic brain associated with ectodermal dysplasia –
thin hair, brain cysts, irregular retinal pigment epithelium,
dystrophic nails, dental abnormalities
Pediatr Radiol
24:116–118, 1994
Polyostotic fibrous dysplasia – scarring alopecia
AD
112:715–719, 1976
Popliteal pterygium syndrome
Primary hypogonadism and partial alopecia
Proteus syndrome
AD 140:947–953, 2004
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
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