Dermatologic Differential Diagnosis.pdf. - Famona Site
Dermatologic Differential Diagnosis.pdf. - Famona Site
Dermatologic Differential Diagnosis.pdf. - Famona Site
Create successful ePaper yourself
Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.
Kenny syndrome (tubular stenosis) Clin Pediatr 28:175–179, 1989<br />
Kniest dysplasia (metatropic dysplasia) Am J Med Genet<br />
6:171–178, 1980<br />
Langerhans cell histiocytosis – growth hormone deficiency due<br />
to hypothalamic involvement Rook p.2321, 1998, Sixth Edition;<br />
NEJM 292:332–333, 1975<br />
Lenz microphthalmia syndrome Z Kenderheilkd 77:384–390, 1955<br />
LEOPARD (Moynahan’s) syndrome – autosomal dominant;<br />
CALMs, granular cell myoblastomas, steatocystoma multiplex,<br />
small penis, hyperelastic skin, low-set ears, short webbed neck,<br />
short stature, syndactyly Ped Derm 20:173–175, 2003; JAAD<br />
46:161–183, 2002; JAAD 40:877–890, 1999; J Dermatol<br />
25:341–343, 1998; Am J Med 60:447–456, 1976; AD<br />
107:259–261, 1973; Am J Dis Child 117:652–662, 1969<br />
Leprechaunism – Donohue’s syndrome – decreased<br />
subcutaneous tissue and muscle mass, characteristic facies,<br />
severe intrauterine growth retardation, broad nose, low-set ears,<br />
hypertrichosis of forehead and cheeks, loose folded skin at<br />
flexures, gyrate folds of skin of hands and feet; breasts, penis,<br />
clitoris hypertrophic Ped Derm 19:267–270, 2002; Endocrinologie<br />
26:205–209, 1988<br />
Leri–Weill dyschondrosteosis – mesomelic short stature<br />
syndrome with Madelung’s deformity; SHOX haploinsufficiency<br />
like Turner’s syndrome JAAD 50:767–776, 2004<br />
Macrocephaly with cutis marmorata, hemangioma, and<br />
syndactyly syndrome – macrocephaly, hypotonia,<br />
hemihypertrophy, hemangioma, cutis marmorata telangiectatica<br />
congenita, internal arteriovenous malformations, syndactyly,<br />
joint laxity, hyperelastic skin, thickened subcutaneous tissue,<br />
developmental delay, short stature, hydrocephalus Ped Derm<br />
16:235–237, 1999<br />
Marden–Walker syndrome – autosomal recessive; mental<br />
retardation, failure to thrive, microcephaly, immobility of facial<br />
muscles, blepharophimosis, congenital joint contractures,<br />
arachnodactyly, kyphoscoliosis, and transverse palmar creases<br />
J Child Neurol 16:150–153, 2001<br />
Martsolf syndrome – cataracts, facial dysmorphism,<br />
microcephaly, short stature, hypogonadism Am J Med Genet<br />
1:291–299, 1978<br />
Mastocytosis of the skin, short stature, conductive hearing loss,<br />
and microtia Clin Genet 37:64–68, 1990<br />
MC/MR syndrome with multiple circumferential skin creases –<br />
multiple congenital anomalies including high forehead,<br />
elongated face, bitemporal sparseness of hair, broad eyebrows,<br />
blepharophimosis, bilateral microphthalmia and microcornea,<br />
epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks,<br />
microstomia, cleft palate, enamel hypoplasia, micrognathia,<br />
microtia with stenotic ear canals, posteriorly angulated ears,<br />
short stature, hypotonia, pectus excavatum, inguinal and<br />
umbilical hernias, scoliosis, hypoplastic scrotum, long fingers,<br />
overlapping toes, severe psychomotor retardation, resembles<br />
Michelin tire baby syndrome Am J Med Genet 62:23–25, 1996<br />
Microcephaly–lymphedema syndrome – with short stature<br />
Am J Med Genet 280:506–509, 1998<br />
Microphthalmia with linear skin defects (MIDAS syndrome) –<br />
Xp22.3 deletion Ped Derm 20:153–157, 2003<br />
Monosuperocentroincisivodontic dwarfism Clin Genet<br />
32:370–373, 1987<br />
Moore–Federman syndrome – short stature, stiffness of joints,<br />
characteristic facies J Med Gen 26:320–325, 1989<br />
Mucopolysaccharidoses (Hunter’s, Hurler’s, Sanfilippo<br />
syndromes) JAAD 48:161–179, 2003<br />
Mulibrey nanism – autosomal recessive; proportionate short<br />
stature, prenatal growth deficiency, muscle weakness, abnormal<br />
SHORT STATURE 619<br />
sella turcica, hepatomegaly, ocular fundi lesions Am J Med<br />
Genet 66:378–398, 1996<br />
Multiple pterygium syndrome Am J Dis Child 142:794–798,<br />
1988; Eur J Pediatr 147:550–552, 1988; J Med Genet<br />
24:733–749, 1987<br />
Neu–Laxova syndrome – variable presentation; mild scaling to<br />
harlequin ichthyosis appearance; ichythosiform scaling, increased<br />
subcutaneous fat and atrophic musculature, generalized edema<br />
and mildly edematous feet and hands, absent nails; microcephaly,<br />
intrauterine growth retardation, limb contractures, low-set ears,<br />
sloping forehead, short neck; small genitalia, eyelid and lip<br />
closures, syndactyly, cleft lip and palate, micrognathia; autosomal<br />
recessive; uniformly fatal Ped Derm 20:25–27,78–80, 2003; Curr<br />
Prob Derm 14:71–116, 2002; Clin Dysmorphol 6:323–328, 1997;<br />
Am J Med Genet 35:55–59, 1990<br />
Oculo-palato-cerebral dwarfism Clin Genet 27:414–419, 1985<br />
Osteodysplastic geroderma (Walt Disney dwarfism) – short<br />
stature, cutis laxa-like changes with drooping eyelids and jowls,<br />
osteoporosis and skeletal abnormalities Am J Med Genet<br />
3:389–395, 1979<br />
Premature aging syndrome (Mulvihill–Smith syndrome) –<br />
Mulvihill–Smith syndrome – autosomal dominant; short stature,<br />
microcephaly, unusual birdlike facies (broad forehead, small<br />
face, micrognathia) (progeroid with lack of facial subcutaneous<br />
tissue), multiple pigmented congenital melanocytic nevi,<br />
freckles, blue nevi, hypodontia, immunodeficiency with chronic<br />
infections, high pitched voice, xerosis, telangiectasias, thin skin,<br />
fine silky hair, premature aging, hypodontia, high-pitched voice,<br />
mental retardation, sensorineural hearing loss, hepatomegaly<br />
low birth weight, short stature, conjunctivitis, delayed puberty<br />
Am J Med Genet 66:378–398, 1996; J Med Genet 31:707–711,<br />
1994; Am J Med Genet 45:597–600, 1993<br />
Naegeli–Franceschetti–Jadassohn syndrome variant –<br />
reticulate pigmentary dermatosis with hypohidrosis and short<br />
stature Int J Dermatol 34:30–31, 1995<br />
Nijmegen breakage syndrome – autosomal recessive;<br />
microcephaly, mental retardation, prenatal onset short stature,<br />
bird-like facies, café-au-lait macules Am J Med Genet<br />
66:378–398, 1996<br />
Noonan’s syndrome Cutis 67:315–316, 2001<br />
Oculocutaneous albinism, dysmorphic features, short stature<br />
Ophthalmic Paediatr Genet 11:209–213, 1990<br />
Oliver–McFarlane syndrome – trichomegaly with mental<br />
retardation, dwarfism, and pigmentary degeneration of the retina<br />
JAAD 37:295–297, 1997; Can J Ophthalmol 28:191–193, 1993<br />
Olmsted syndrome – periorificial keratotic plaques; congenital<br />
diffuse sharply marginated transgradient keratoderma of palms<br />
and soles, onychodystrophy, constriction of digits, diffuse<br />
alopecia, thin nails, chronic paronychia, leukokeratosis of oral<br />
mucosa, linear keratotic streaks, follicular keratosis, constriction<br />
of digits (ainhum), anhidrosis, small stature; differential<br />
diagnostic considerations include Clouston hidrotic ectodermal<br />
dysplasia, pachyonychia congenita, acrodermatitis<br />
enteropathica, Vohwinkel’s keratoderma, mal de Meleda, and<br />
other palmoplantar keratodermas Ped Derm 20:323–326, 2003;<br />
AD 132:797–800, 1996; JAAD 10:600–610, 1984<br />
Omenn syndrome – disproportionate short stature, short limb<br />
skeletal dysplasia type 1; alopecia, eosinophilia, ichthyosiform<br />
skin lesions, reticuloendotheliosis, erythroderma Am J Med<br />
Genet 66:378–398, 1996<br />
Oral–facial–digital syndrome with acromelic short stature<br />
Clin Dysmorphol 8:185–188, 1999; type VI Am J Med Genet<br />
35:360–369, 1990<br />
Osteoglophonic dysplasia Eur J Pediatr 147:547–549, 1988