Dermatologic Differential Diagnosis.pdf. - Famona Site
Dermatologic Differential Diagnosis.pdf. - Famona Site
Dermatologic Differential Diagnosis.pdf. - Famona Site
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620 A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1<br />
Otopalatodigital syndrome Arch Otolaryngol 85:394–399, 1967<br />
Panhypopituitary dwarfism – short stature, excess<br />
subcutaneous fat, high pitched voice, soft, wrinkled skin, childlike<br />
facies Birth Defects 12:15–29, 1976<br />
Pansclerotic morphea Ped Derm 19:151–154, 2002<br />
Polydysplastic epidermolysis bullosa Rook p.3261, 1998,<br />
Sixth Edition<br />
Premature aging syndrome with osteosarcoma, cataracts,<br />
diabetes mellitus, osteoporosis, erythroid macrocytosis, severe<br />
growth and developmental deficiency Am J Med Genet<br />
69:169–170, 1997<br />
Pseudoxanthoma elasticum with osteoectasia – dwarfism,<br />
radiographic changes, increased alkaline phosphatase Clin Exp<br />
Dermatol 7:605–609, 1982<br />
Restrictive dermopathy (stiff skin syndrome) – severe intrauterine<br />
growth retardation; micrognathia, fixed facial expression, low-set<br />
ears, pinched nose, O-shaped mouth, flexion contractures, rigid,<br />
translucent, inelastic skin AD 138:831–836, 2002<br />
Rhizomelic dwarfism – autosomal recessive; chondrodysplasia<br />
punctata with mild ichthyosis Ped Derm 18:442–444, 2001<br />
Ring chromosome 7, 11 – CALMs microcephaly, mental<br />
retardation Am J Med Genet 30:911–916, 1988; 12, and 15<br />
syndromes JAAD 40:877–890, 1999<br />
Ritscher–Schinzel syndrome – autosomal recessive; Dandy<br />
Walker-like malformation, atrioventricular canal defect, short<br />
stature Am J Med Genet 66:378–398, 1996<br />
Robert’s syndrome (hypomelia–hypotrichosis–facial<br />
hemangioma syndrome) – autosomal recessive; mid-facial port<br />
wine stain extending from forehead to nose and philtrum, cleft<br />
lip +/− cleft palate, sparse silver-blond hair, limb reduction<br />
malformation, characteristic facies, malformed ears with<br />
hypoplastic lobules, marked growth retardation Clin Genet<br />
31:170–177, 1987; Clin Genet 5:1–16, 1974<br />
Rombo syndrome – acral erythema, cyanotic redness, follicular<br />
atrophy (atrophoderma vermiculata), milia-like papules,<br />
telangiectasias, red ears with telangiectasia, thin eyebrows,<br />
sparse beard hair, basal cell carcinomas, short stature BJD<br />
144:1215–1218, 2001<br />
Rothmund–Thomson syndrome (poikiloderma congenitale) –<br />
autosomal recessive; scalp hair sparse and fine Ped Derm<br />
18:210–212, 2001; Am J Med Genet 22:102:11–17, 2001; Ped<br />
Derm 18:210212, 2001; Ped Derm 16:59–61, 1999; Rook p.417,<br />
1998, Sixth Edition; Dermatol Clin 13:143–150, 1995; JAAD<br />
27:75–762, 1992; BJD 122:821–829, 1990; Ped Derm<br />
6:325–328, 1989; Ped Derm 6:321–324, 1989; JAAD<br />
17:332–328, 1987; JAAD 17:332–338, 1987; Arch Ophthalmol<br />
(German) 4:159, 1887<br />
Rubenstein–Taybi syndrome – arciform keloids, hypertrichosis,<br />
long eyelashes, thick eyebrows, keratosis pilaris or ulerythema<br />
ophyrogenes, low-set ears, very short stature, broad terminal<br />
phalanges of thumbs and great toes, hemangiomas, nevus<br />
flammeus, café au lait macules, pilomatrixomas, cardiac<br />
anomalies, mental retardation Ped Derm 19:177–179, 2002;<br />
Am J Dis Child 105:588–608, 1963<br />
Russell–Silver syndrome – intrauterine and post-natal growth<br />
retardation; triangular facies, childhood hyperhidrosis, limb<br />
asymmetry, café au lait macules, blue sclerae, achromia, 5th<br />
finger clinodactyly, genital dysmorphia<br />
SADDAN syndrome – autosomal dominant; short stature,<br />
severe tibial bowing, severe achondroplasia with profound<br />
developmental delay and acanthosis nigricans BJD<br />
147:1096–1011, 2002; Am J Med Genet 85:53–65, 1999<br />
Satoyoshi syndrome – alopecia areata with progressive painful<br />
intermittent muscle spasms, diarrhea or unusual malabsorption,<br />
endocrinopathy with amenorrhea (hypothalamic dysfunction),<br />
very short stature, flexion contractures, skeletal abnormalities<br />
Ped Derm 18:406–410, 2001; AD 135:91–92, 1999<br />
Say–Barber syndrome – short stature, microcephaly, large ears,<br />
flexion contractures, decreased subcutaneous fat; dermatitis in<br />
infancy with transient hypogammaglobulinemia Am J Med<br />
Genet 86:165–167, 1999; Am J Med Genet 45:358–360, 1993<br />
Schimke immunoosseous dysplasia – disproportionate short<br />
stature, spondyloepiphyseal dysplasia, progressive nephropathy,<br />
episodic lymphopenia, pigmentary skin changes Am J Med<br />
Genet 66:378–398, 1996<br />
Schwachman syndrome – disproportionate short stature,<br />
metaphyseal dysplasia, exocrine pancreatic insufficiency,<br />
cyclic neutropenia Am J Med Genet 66:378–398, 1996<br />
Schwartz–Jampel syndrome (chondrodystrophic myotonia)<br />
Am J Med Genet 66:378–398, 1996; J Neurol Neurosurg<br />
Psychiat 41:161–169, 1978<br />
Seckel’s syndrome – autosomal recessive; hair sparse and<br />
prematurely gray, growth retardation, beak-like nose, large eyes,<br />
skeletal defects Am J Med Genet 12:7–21, 1982<br />
SHORT syndrome – short stature, joint hyperextensibility, ocular<br />
depression (deep-set eyes), Rieger anomaly, teething delay;<br />
lipoatrophy of face Clin Dysmorphol 8:219–221, 1999; Birth<br />
Am J Med Genet 61:178–181, 1996; J Med Genet 26:473–475,<br />
1989; Defects 11:46–48, 1975<br />
Short limb skeletal dysplasia type 3 (disproportionate<br />
short stature) – metaphyseal dysplasia, exocrine pancreatic<br />
insufficiency, cyclic neutropenia Am J Med Genet 66:378–398,<br />
1996<br />
Short stature, alopecia, and macular degeneration Rook<br />
p.3261, 1998, Sixth Edition<br />
Short stature, characteristic facies, mental retardation, skeletal<br />
anomalies, and macrodontia Clin Genet 26:69–72, 1984<br />
Short stature and delayed dental eruption Oral Surg<br />
41:235–243, 1976<br />
Short stature and macrocephaly, mental retardation Am J Med<br />
Genet 21:697–705, 1985<br />
Short stature, mental retardation, facial dysmorphism, short<br />
webbed neck, skin changes, congenital heart disease – xerosis,<br />
dermatitis, low-set ears, umbilical hernia Clin Dysmorphol<br />
5:321–327, 1996<br />
Short stature, mental retardation, ocular abnormalities Helv<br />
Paediat Acta 27:463–469, 1972<br />
Short stature, oligodontia Syndromes of the Head and Neck<br />
p.873, 1990<br />
Short stature and osteopetrosis Radiology 164:23–224, 1987<br />
Short stature, premature aging, pigmented nevi J Med Genet<br />
25:53–56, 1988<br />
Short stature, sensorineural hearing loss, low nasal bridge, cleft<br />
palate Am J Med Genet 21:317–324, 1985<br />
Short stature and short thin dilacerated dental roots Oral Surg<br />
54:553–559, 1982<br />
Short stature and solitary maxillary central incisor J Pediatr<br />
91:924–928, 1977<br />
Smith–Fineman–Myers syndrome (unusual facies, short stature,<br />
and mental deficiency) Am J Med Genet 22:301–304, 1985<br />
Stanescu osteosclerosis syndrome – short stature,<br />
brachycephaly, hypoplastic midface, ocular proptosis,<br />
micrognathia, brachydactyly, dense cortices of long bones<br />
J Genet Hum 29:129–139, 1981<br />
Stickler syndrome (hereditary arthroophthalmopathy) –<br />
autosomal dominant; flat midface, cleft palate, myopia with<br />
retinal detachment, cataracts, hearing loss, arthropathy J Med<br />
Genet 36:353, 359, 1999; Birth Defects 11:77–103, 1975