Dermatologic Differential Diagnosis.pdf. - Famona Site

288 A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
Ichthyosis exfoliativa – autosomal recessive; peeling of
neonate; resembles ichthyosis bullosa of Siemens in adult life
BJD 149:174–180, 2003; thought to be identical to ichthyosis
bullosa of Siemens JAAD 27:348–355, 1992; BJD
124:191–194, 1991
Ichthyosis hystrix (Curth–Macklin) – autosomal dominant; spiky
hyperkeratosis; epidermolytic hyperkeratosis with diffuse or
striate PPK Curr Prob Derm 14:71–116, 2002; Rook p.1510,
1998, Sixth Edition
Ichthyosis with renal disease – red skin, fine scale, vesicles over
dorsal hands and feet, aminoaciduria, dwarfism, mental
retardation J Pediatr 82:466–470, 1973
Ichthyosis, mental retardation, dwarfism, and renal impairment
J Pediatr 92:766–768, 1978
Ichthyosis, split hairs, aminoaciduria
Ichthyosis variegata (congenital reticular ichthyosiform
erythroderma) BJD 139:893–896, 1998
Ichthyosis vulgaris – autosomal dominant; fine white scale Curr
Prob Derm 14:71–116, 2002; Rook p.1487, 1998, Sixth Edition
Ichthyosis vulgaris-like with keratoderma and increased serum
β-glucuronidase Dermatologica 177:341–347, 1988
Ichthyosis vulgaris-like – autosomal recessive; no collodion
membrane AD 122:428–433, 1986
Ichthyosis vulgaris palmaris et plantaris dominans
Dermatologica 165:627–635, 1982
Lamellar ichthyosis – autosomal recessive Rook p.1500–1501,
1998, Sixth Edition; autosomal dominant Clin Genet
30:122–126, 1986; Clin Genet 26:457–461, 1984
Loricrin keratoderma – ichthyosis, palmoplantar keratoderma,
pseudoainhum Ped Derm 19:285–292, 2002
Non-bullous CIE (congenital ichthyosiform erythroderma)
(erythrodermic lamellar ichthyosis) – autosomal recessive;
collodion baby; fine white scales, background erythema
Curr Prob Derm 14:71–116, 2002; AD 121:477–488, 1985
Pityriasis rotunda – may be paraneoplastic phenomenon; or
with leprosy JAAD 31:866–871, 1994; JAAD 14:74–78, 1986;
BJD 76:223–227, 1964
Progressive symmetric erythrokeratoderma Textbook
of Neonatal Dermatology, p.287, 2001
X-linked recessive ichthyosis (steroid sulfatase deficiency) –
large dark scaling of extensor surfaces of outer arms, outer
thighs, around lower legs; flexures may be involved Curr Prob
Derm 14:71–116, 2002; Br Med J 1:947–950, 1966
X-linked recessive ichthyosis (multiple sulfatase deficiency) –
combination of mucopolysacchariosis type 2 (aryl sulfatase
B deficiency), metachromatic leukodystrophy (aryl sulfatase
A deficiency), and XLRI Ped Derm 14:369–372, 1997;
Clin Genet 30:409–415, 1986
X-linked recessive ichthyosis without steroid sulfatase
deficiency Am J Med Genet 59:143–148, 1995
SYNDROMES
Ablepharon with follicular ichthyosis and hairy pinnae
Clin Genet 2:111–114, 1971
Adolescent-onset ichythyosiform-like erythroderma with
lichenoid tissue reaction BJD 144:1063–1066, 2001
Anhidrotic ectodermal dysplasia
Ankyloblepharon-ectodermal dysplasia-cleft lip/palate
(AEC syndrome) – collodion baby
Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis
syndrome (ARCI) Dur J Pediatr 156:78, 1997
Atypical ichthyosis vulgaris with hypogonadism
Buschke–Ollendorf syndrome Sybert’s Genetic Skin Disorders
Cardio-facio-cutaneous syndrome (Noonan-like short stature
syndrome) – xerosis/ichthyosis, eczematous dermatitis,
growth failure, hyperkeratotic papules, ulerythema ophryogenes,
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 28:815–819, 1993; AD 129:46–47,
1993; port wine stain Clin Genet 42:206–209, 1992;
JAAD 22:920–922, 1990
Chondrodysplasia punctata, X-linked recessive – short stature
with ichthyosis Ped Derm 18:442–444, 2001
Congenital erosive and vesicular dermatosis with reticulate
scarring – collodion-like membrane JAAD 32:873–877, 1995,
Ped Derm 15:214–218, 1998
Congenital ichthyosis, alopecia, eclabion, ectropion, mental
retardation – autosomal recessive Clin Genet 31:102–108, 1987
Congenital ichthyosis, follicular atrophoderma, hypotrichosis,
and hypohidrosis Am J Med Geneet 13:186–189, 1998
Congenital ichthyosis with linear keratotic flexural papules
and mutilating sclerosing palmoplantar keratoderma
AD 125:103–106, 1989
CHILD syndrome – congenital hemidysplasia, ichthyosis, limb
defects, unilateral ichthyosiform erythroderma; ipsilateral
hypoplasia of brain and bones Curr Prob Derm 14:71–116, 2002;
Ped Derm 15:360–366, 1998; Dermatology 191:210–216, 1995
CHIME syndrome – colobomata, heart defects, ichthyosiform
dermatosis of the flexures, mental retardation, and ear
defects – congenital ichthyosis with islands of sparing; migratory
plaques Curr Prob Derm 14:71–116, 2002; JAAD 46:S156–158,
2002 Ped Derm 18:252–254, 2001; J Med Genet 32:465–469,
1995
Chondrodysplasia punctata, rhizomelic type, ichthyosis
Congenital ichythyosis, hypogonadism, small stature, facial
dysmorphism, scoliosis, and myogenic dystrophy Ann Genet
42:45–50, 1999
Congenital ichthyosis, retinitis pigmentosa, hypergonadotropic
hypogonadism, small stature, mental retardation, cranial
dysmorphism, abnormal electroencephalogram Ophthalmic
Genet 19:69–79, 1998
Congenital ichthyosis and keratoderma (Vohwinkel’s syndrome)
Congenital reticular ichthyosiform erythroderma (ichthyosis
variegata) BJD 139:893–896, 1998
Conradi–Hünermann syndrome (Happle’s syndrome) (X-linked
dominant chondrodysplasia punctata) (chondrodysplasia
punctata, ichthyosis, cataract syndrome); autosomal recessive,
collodion baby or ichthyosiform erythroderma at birth; or onset
in infancy, Blaschko pattern of erythroderma and scaling;
plantar hyperkeratosis; resolves in time to reveal whorl-like
ichthyosiform hyperkeratosis heals with atrophy, swirls of fine
scale, linear hyperpigmentation, follicular atrophoderma of arms
and legs, cicatricial alopecia; skeletal defects with short stature
severe autosomal rhizomelic type; X-linked recessive variant;
bilateral cataracts, high arched palate, shortening of humerus
and femur; chondrodysplasia punctata; peroxisomal enzyme
deficiency; JAAD 21:248–256, 1989; whorled thick or spiky
hyperkeratosis in X-linked dominant Conradi–Hünermann
syndrome JAAD 21:248–256, 1989; linear hyperkeratotic bands
with diffuse erythema and scale, follicular atrophoderma,
hypochromic areas, scalp alopecia, ichthyosiform erythroderma
Curr Prob Derm 14:71–116, 2002; AD 127:539–542, 1991,
Ped Derm 15:299–303, 1998; Rook p.1520, 1998, Sixth Edition;