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Dermatologic Differential Diagnosis.pdf. - Famona Site

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dermatitis, cribriform scrotal atrophy, ectropion, lacrimal duct<br />

hypoplasia, malaligned great toenails, gastroesophageal reflux,<br />

ear infections, laryngeal cleft, dental anomalies, scalp hair coarse<br />

and curly, sparse eyebrows, xerosis, hypohidrosis, short nose<br />

absent philtrum, flat upper lip BJD 152:365–367, 2005<br />

Ectrodactyly–ectodermal dysplasia–cleft lip/palate syndrome<br />

(EEC syndrome) – chronic blepharitis Ped Derm 20:113–118,<br />

2003<br />

Encephalocranial lipomatosis – linear yellow papules of<br />

forehead extending to eyelids; ophthalmologic manifestations;<br />

seizures, mental retardation; mandibular or maxillary ossifying<br />

fibromas and odontomas Ped Derm 22:206–209, 2005; JAAD<br />

47:S196–200, 2002; Am J Med Genet 191:261–266, 2000;<br />

JAAD 37:102–104, 1998; BJD 104:89–96, 1981<br />

Epidermal nevus syndrome – pedunculated eyelid papules<br />

JAAD 50:957–961, 2004<br />

Eyelid cysts, hypodontia and hypotrichosis JAAD 10:922–925,<br />

1984<br />

Familial dyskeratotic comedones<br />

Fetal alcohol syndrome – narrow eyelids Drug Alcohol Depend<br />

14:1–10, 1984<br />

FG syndrome (unusual facies, mental retardation, congenital<br />

hypotonia, imperforate anus) – short narrow eyelids Am J Med<br />

Genet 19:383–386, 1984<br />

Floppy eyelid syndrome – eversion of lids during sleep BJD<br />

151:706, 2004<br />

Frydman syndrome – autosomal recessive; prognathism,<br />

syndactyly, short stature, blepharophimosis, weakness of<br />

extraocular and frontal muscles, synophrys Clin Genet<br />

41:57–61, 1992<br />

Goldenhaar syndrome – mandibulofacial dysostosis Rook<br />

p.2980, 1998, Sixth Edition<br />

Hereditary angioneurotic edema (Quincke’s edema)<br />

Hereditary gelsolin amyloidosis (AGel amyloidosis) – cutis laxa<br />

with blepharochalasis, corneal lattice dystrophy, cranial and<br />

peripheral polyneuropathy BJD 152:250–257, 2005<br />

Kabuki makeup syndrome – short stature, distinct face (long<br />

palpebral fissures, eversion of the lower eyelids (ectropion),<br />

sparse arched lateral eyebrows, prominent ears) fetal finger<br />

pads, mental retardation Am J Med Genet 94:170–173, 2000;<br />

Am J Med Genet 31:565–589, 1988; J Pediatr 105:849–850,<br />

1984; J Pediatr 99:565–569, 1981<br />

Leprechaunism (Donohue’s syndrome) – ptosis, 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 Endocrinologie 26:205–209, 1988<br />

Lipoid granulomatosis (Erdheim–Chester disease) – yellow<br />

eyelid papules Ghatan p.58, 2002, Second Edition<br />

Lipoid proteinosis – papules along the lash margin Int J Derm<br />

39:203–204, 2000; Eyelid and Conjunctival Tumors, Shields JA<br />

and Shields CL, Lippincott Williams and Wilkins p.177, 1999;<br />

Rook p.2641, 1998, Sixth Edition; Acta Paediatr 85:1003–1005,<br />

1996; JAAD 27:293–297, 1992<br />

Lymphedema–distichiasis syndrome – periorbital edema,<br />

vertebral abnormalities, spinal arachnoid cysts, congenital heart<br />

disease, thoracic duct abnormalities, hemangiomas, cleft<br />

palate, microphthalmia, strabismus, ptosis, short stature,<br />

webbed neck Ped Derm 19:139–141, 2002<br />

Marcus Gunn phenomenon (winking jaw syndromes) – ptosis<br />

Am J Ophthalmol 82:503–504, 1976<br />

MAUIE syndrome – micropinnae, alopecia, ichthyosis, and<br />

ectropion JAAD 37:1000–1002, 1997<br />

EYELID LESIONS 193<br />

Melkersson–Rosenthal syndrome – granulomatous blepharitis<br />

Ophthalmology 104:1185–1189, 1997<br />

MEN IIB – thickened eyelid margins AD 139:1647–1652, 2003<br />

JAAD 42:939–969, 2000<br />

MEN type III – eyelid papules – plexiform neuromas JAAD<br />

36:296–300, 1997<br />

Moebius syndrome – ptosis J Med Genet 14:415–417, 1977<br />

Multicentric reticulohistiocytosis – multiple papules Eyelid and<br />

Conjunctival Tumors, Shields JA and Shields CL, Lippincott<br />

Williams and Wilkins p.149, 1999<br />

Multiple pterygium syndrome – ptosis Am J Med Genet<br />

7:91–102, 1980<br />

Myotonic dystrophy (Steinert syndrome) – ptosis J Pediatr<br />

81:83–86, 1972<br />

Neu–Laxova syndrome – rudimentary eyelids, polyhydramnios,<br />

growth retardation, microcephaly, ichthyosis, thick<br />

hyperkeratotic skin Am J Med Genet 43:602–605, 1992<br />

Neurofibromatosis type I – plexiform neurofibroma of the eyelids<br />

J Maxillofac Surg 12:78–85, 1984<br />

Neutral lipid storage disease (Dorfman–Chanarin syndrome) –<br />

autosomal recessive; at birth collodion baby or ichthyosiform<br />

erythroderma; thereafter pattern resembles non-bullous<br />

ichthyosiform erythroderma; hypohidrosis; ectropion;<br />

palmoplantar hyperkeratosis, WBC vacuoles, myopathy, fatty<br />

liver, CNS disease, deafness BJD 144:430–432, 2001; JAAD<br />

17:801–808, 1987; AD 121:1000–1008, 1985<br />

Nevoid basal cell carcinoma (Gorlin’s) syndrome – eyelid<br />

lesions JAAD 11:98–104, 1984; AD 114:95–97, 1978; Birth<br />

Defects 8:140–148, 1971<br />

Nevus sebaceus syndrome <strong>Dermatologic</strong>a 181:221–223, 1990<br />

Noonan syndrome – ptosis J Med Genet 24:9–13, 1987<br />

Oculo-auricular vertebral syndrome – epibulbar dermoid tumors<br />

Ped Derm 20:182–184, 2003<br />

Pallister–Killian syndrome – ptosis J Clin Dysmorphol 1:2–3,<br />

1983<br />

Penchaszadeh syndrome (nasopalpebral lipoma–coloboma<br />

syndrome) – eyelid lipoma Am J Med Genet 11:397–410, 1982<br />

Popliteal pterygium syndrome – autosomal dominant; eyelid<br />

adhesions, bilateral popliteal pterygia, intercrural pterygium,<br />

hypoplastic digits, valgus or varus foot deformities, syndactyly,<br />

cryptorchidism, inguinal hernia, cleft scrotum, lower lip pits,<br />

mucous membrane bands J Med Genet 36:888–892, 1999; Int J<br />

Pediatr Otorhinolaryngol 15:17–22, 1988<br />

Ptosis–aortic coarctation syndrome J Pediatr Surg 22:724–726,<br />

1987<br />

Ptosis and unusual facies Am J Med Genet 7:5–9, 1980<br />

Rapp–Hodgkin hypohidrotic ectodermal dysplasia – autosomal<br />

dominant; alopecia of wide area of scalp in frontal to crown<br />

area, short eyebrows and eyelashes, coarse wiry sparse<br />

hypopigmented scalp hair, sparse body hair, scalp dermatitis,<br />

ankyloblepharon, syndactyly, nipple anomalies, cleft lip and/or<br />

palate; nails narrow and dystrophic, small stature, hypospadius,<br />

conical teeth and anodontia or hypodontia; distinctive facies,<br />

short stature JAAD 53:729–735, 2005; Ped Derm 7:126–131,<br />

1990; J Med Genet 15:269–272, 1968<br />

Restrictive dermopathy – autosomal recessive, swollen eyelids,<br />

erythroderma at birth, with extensive erosions and contractures;<br />

taut shiny skin; fetal akinesia, multiple joint contractures,<br />

dysmorphic facies with fixed open mouth, hypertelorism,<br />

pulmonary hypoplasia, bone deformities; uniformly fatal Ped<br />

Derm 19:67–72, 2002; Ped Derm 16:151–153, 1999; AD<br />

134:577–579, 1998; AD 128:228–231, 1992<br />

Robinow syndrome (fetal face syndrome) – ankyloblepharon<br />

Clin Genet 31:77–85, 1987

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