coloboma, disturbed hematopoiesis
Dermatol Wochenschr
132:994–1007, 1955
Hypohidrotic ectodermal dysplasia
Textbook of Neonatal
Dermatology, p.492, 2001
Hypomelia, hypotrichosis, facial hemangioma syndrome
(pseudothalidomide syndrome) – sparse silvery blond hair
Am J Dis Child 123:602–606, 1972
Hypothyroidism (athyroidal) with spiky hair and cleft palate
HOPP syndrome – hypotrichosis, striate, reticulated pitted
palmoplantar keratoderma, acro-osteolysis, psoriasiform plaques,
lingua plicata, onychogryphosis, ventricular arrhythmias,
periodontitis
BJD 150:1032–1033, 2004; BJD 147:575–581, 2002
Hypotrichosis with keratosis pilaris
Arch Klin Exp Dermatol
210:123–127, 1960
Hypotrichosis with keratosis pilaris and lentiginosis
Arch Klin
Exp Dermatol 210:123–127, 1960
Hypotrichosis with light-colored hair and facial milia
Hypotrichosis with juvenile retinal macular dystrophy – autosomal
recessive; mutation in CDH3 encoding P-cadherin; short sparse
scalp hair
BJD 153:635–638, 2005; BJD 143:902–904, 2000
HID syndrome (hystrix-like ichthyosis with deafness) –
autosomal dominant; shark-skin appearance, sensorineural
deafness, spiky and cobblestoned hyperkeratosis, neonatal
erythroderma, scarring alopecia, occasional punctate keratitis;
probably variant of KID syndrome with mutation of connexin 26
(gap junction protein)
BJD 146:938–942, 2002
Ichthyosis–cheek–eyebrow syndrome – ICE syndrome – ichthyosis
vulgaris, fullness of cheeks, thinning of eyebrows; dysmorphic
features, skeletal anomalies
Clin Genet 31:137–142, 1987
Ichthyosis follicularis with atrichia and photophobia
(IFAP syndrome) – psoriasiform plaques; collodion membrane and
erythema at birth; ichthyosis; palmoplantar erythema; generalized
follicular keratoses, non-scarring alopecia of scalp, eyebrows, and
eyelashes, keratotic spiny follicular papules of elbows, knees,
fingers, extensor surfaces, xerosis; gingival hyperplasia, angular
cheilitis, recurrent cutaneous infections; punctate keratitis; ocular
revascularizations; growth retardation; atopic dermatitis, urticaria;
X-linked recessive
Ped Derm 20:48–51, 2003; JAAD 46:S156–158,
2002; BJD 142:157–162, 2000; Am J Med Genet 85:365–368,
1999; AD 125:103–106, 1989; Dermatologica 177:341–347, 1988
Incontinentia pigmenti (S) – vertex alopecia
AD 112:535–542,
1976; pale atrophic hairless patches in stage 4 AD
139:1163–1170, 2003; JAAD 47:169–187, 2002; JAAD
31:853–857, 1994; whorled alopecia JAAD 49:929–931, 2003
Jackli syndrome – generalized reticulated hyperpigmentation
with alopecia, microdontia and childhood cataracts
Johanson–Blizzard syndrome – aplasia cutis congenita of
the scalp, sparse hair, deafness, absence of permanent tooth
buds, hypoplastic ala nasi, dwarfism, microcephaly, mental
retardation, hypotonia, pancreatic insufficiency with
malabsorption, hypothyroidism, genital and rectal anomalies
Clin Genet 14:247–250, 1978; J Pediatr 79:982–987, 1971
Juvenile macular dystrophy and congenital hypokeratosis – hair
that won’t grow long
JAAD 53:S130–134, 2005
Keratoderma, hypotrichosis, and leukonychia totalis – dry,
brittle, sparse hair
Ped Derm 19:226, 2002
Keratosis follicularis spinulosa decalvans (Siemens
syndrome)(S) – X-linked dominant and autosomal dominant;
scarring alopecia of scalp and eyebrows, and eyelashes; xerosis,
thickened nails, photophobia, spiny follicular papules (keratosis
pilaris), scalp pustules, palmoplantar keratoderma
Ped Derm
22:170–174, 2005; JAAD 47:S275–278, 2002; AD 136:235–242,
2000; AD 128:397–402, 1992; JAAD 16:89–95, 1987
Keratosis–ichthyosis–deafness syndrome (KID syndrome) –
autosomal recessive; hypotrichosis of scalp, eyebrows, and
eyelashes
Ped Derm 15:219–221, 1998
Kirman syndrome – anhidrosis, total alopecia, and severe
mental retardation
BJD 67:303–307, 1953
Klinefelter’s syndrome – scant hair on beard, trunk and
extremities
Klinefelter’s syndrome. Berlin: Springer-Verlag, 1984
Koraxitrachitic syndrome – self-healing collodion baby; heals
with mottled reticulated atrophy; alopecia, absent eyelashes and
eyebrows, conjunctival pannus, hypertelorism, prominent nasal
root, large mouth, micrognathia, brachydactyly, syndactyly of
interdigital spaces
Am J Med Genet 86:454–458, 1999
Lipoid proteinosis – patchy alopecia
BJD 151:413–423, 2004;
JID 120:345–350, 2003; Hum Molec Genet 11:833–840, 2002;
JAAD 39:149–171, 1998; eyelash alopecia due to beaded
papules along lash margin
Rook p.2641, 1998, Sixth Edition
Loose anagen syndrome – hair that won’t grow long
JAAD
53:S130–134, 2005; JAAD 20:249–256, 1989; may be seen
with Noonan’s syndrome, nail–patella syndrome,
tricho–rhino–phalangeal syndrome, woolly hair nevus,
other ectodermal dysplasias
AAD National Meeting, 1998,
Vera Price Hair Seminar
Lumpy scalp syndrome – autosomal dominant; irregular scalp
nodules, deformed pinnae, rudimentary nipples
Clin Exp
Dermatol 15:240, 1989
Marie Unna’s hypotrichosis (hereditary hypotrichosis simplex) –
thin, sparse hair
BJD 150:837–842, 2004; Ped Derm 19:250–255,
2002; Ped Derm 19:148–150, 2002; BJD 143:811–814, 2000;
Dermatology 196:339–342, 1998; Dermatology 191:139–141,
1995; Clin Genet 32:120–124, 1987; JID 57:389–400, 1971
Marinesco–Sjögren syndrome – sparse, fine, short, fair, brittle
hair, short stature, congenital cataracts, cerebellar ataxia
J Ped 65:431–437, 1964
MAUIE syndrome – micropinnae, alopecia, ichthyosis and
ectropion
JAAD 37:1000–1002, 1997
MC/MR syndrome with multiple circumferential skin creases –
multiple congenital anomalies including high forehead,
elongated face, bitemporal sparseness of hair, broad eyebrows,
blepharophimosis, bilateral microphthalmia and microcornea,
epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks,
microstomia, cleft palate, enamel hypoplasia, micrognathia,
microtia with stenotic ear canals, posteriorly angulated
ears, short stature, hypotonia, pectus excavatum, inguinal
and umbilical hernias, scoliosis, hypoplastic scrotum, long
fingers, overlapping toes, severe psychomotor retardation;
resembles Michelin tire baby syndrome
Am J Med Genet
62:23–25, 1996
Mendes de Costa syndrome – generalized reticulate
hyperpigmentation on face and limbs, intraepidermal blisters,
microcephaly, mental retardation, atrichia, short conical fingers
JAAD 50:S65–69, 2004
Menkes’ kinky hair syndrome – alopecia with increased hair
fragility, silvery hair, generalized hypopigmentation, lax skin of
brows, neck and thighs
Ped Derm 15:137–139, 1998; pili torti
Ped Derm 16:220–221, 1999; Pediatrics 50:181–183, 1972
Mitochondrial disease – alopecia and hair shaft abnormalities
Pediatrics 103:428–433, 1999
Monilethrix with scalp pruritus, posterior subcapsular cataracts,
abnormal facies, severe growth retardation
Ped Derm
21:486–490, 2004
Moynahan’s syndrome – autosomal recessive; congenital
alopecia, mental retardation, seizures
Proc R Soc Med
55:411–412, 1962
Mucoepithelial dysplasia (gap junction disease) – thin scalp hair
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