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192 A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1<br />

Ptosis – congenital, aging, Horner’s syndrome, third nerve<br />

palsy, myasthenia gravis, myotonic dystrophy, Ehlers–Danlos<br />

syndrome; Frydman syndrome (ptosis with blepharophimosis,<br />

epicanthus inversus and telecanthus)<br />

Seborrheic blepharitis The Clinical Management of Itching;<br />

Parthenon; p.35, 2000; Rook p.2990, 1998, Sixth Edition<br />

Vitiligo<br />

PSYCHOCUTANEOUS DISEASE<br />

Factitial dermatitis Br J Ophthalmol 82:97, 1998<br />

SYNDROMES<br />

Aarskog syndrome – ptosis Birth Defects 11:25–29, 1975<br />

Ablepharon macrostomia – absent eyelids, ectropion, abnormal<br />

ears, rudimentary nipples, dry redundant skin, macrostomia,<br />

ambiguous genitalia Hum Genet 97:532–536, 1996<br />

Ablepharon with follicular ichthyosis and hairy pinnae Clin<br />

Genet 2:111–114, 1971<br />

Acrocallosal syndrome (Greig cephalopolysyndactyly<br />

syndrome) – abnormal upper lids, frontonasal dysostosis,<br />

callosal agenesis, cleft lip/palate, redundant skin of neck,<br />

grooved chin, bifid thumbs, polydactyly, syndactyly Am J Med<br />

Genet 43:938–941, 1992<br />

Acrocraniofacial dysostosis – ptosis Am J Med Genet<br />

29:95–106, 1988<br />

Acrofacial dysostosis (Reynolds syndrome) – ptosis Am J Med<br />

Genet Suppl 2:143–150, 1986<br />

AEC syndrome (Hay–Wells syndrome) – ankyloblepharon,<br />

ectodermal dysplasia, cleft lip/palate syndrome – eyelid<br />

papillomas, periorbital wrinkling Textbook of Neonatal<br />

Dermatology, p.468, 2001; Ped Derm 14:149–150, 1997<br />

Anhidrotic ectodermal dysplasia – folds and creases of upper<br />

and lower eyelids J Med Genet 38:579–585, 2001; Am J Med<br />

Genet 53:153–162, 1994<br />

Ankyloblepharon – AEC (Hay–Wells) syndrome, ADULT<br />

syndrome, EEC syndrome, Limb–mammary syndrome JAAD<br />

47:805, 2002<br />

Ankyloblepharon with cleft palate Br J Ophthalmol 63:129, 1969<br />

Ascher’s syndrome – blepharochalasis with progressive<br />

enlargement of upper lip; increased thickness of eyelids AD<br />

139:1075–1080, 2003; JAAD 29:650–651, 1993; Ped Derm<br />

8:122–123, 1991; BJD 66:129–138, 1954; Klin Monatsbl<br />

Augenheilkd 65:86–97, 1920<br />

Ataxia telangiectasia – telangiectasias of eyelids, bulbar<br />

conjunctivae, tip of nose, ears, antecubital and popliteal fossae,<br />

dorsal hands and feet; atrophy with mottled hypo- and<br />

hyperpigmentation, dermatomal CALMs, photosensitivity,<br />

canities, acanthosis nigricans, dermatitis; cutaneous<br />

granulomas present as papules or nodules, red plaques with<br />

atrophy or ulceration Rook p.2095,1998, Sixth Edition; JAAD<br />

10:431–438, 1984; Ann Intern Med 99:367–379, 1983<br />

Barber–Say syndrome – ablepharon, ectropion of lower<br />

eyelids, hypertrichosis, atrophic skin Am J Med Genet<br />

47:20–23, 1993<br />

Basaloid follicular hamartoma syndrome – multiple<br />

skin-colored, red, and hyperpigmented papules of the face,<br />

neck chest, back, proximal extremities, and eyelids; syndrome<br />

includes milia-like cysts, comedones, sparse scalp hair, palmar<br />

pits, and parallel bands of papules of the neck (zebra stripes)<br />

JAAD 43:189–206, 2000<br />

Beckwith–Wiedemann syndrome (Exomphalos–Macroglossia–<br />

Gigantism) (EMG) syndrome – autosomal dominant; zosteriform<br />

rash at birth, exomphalos, macroglossia, visceromegaly, facial<br />

salmon patch of forehead, upper eyelids, nose, and upper lip<br />

and gigantism; linear earlobe grooves, circular depressions of<br />

helices; increased risk of Wilms’ tumor, adrenal carcinoma,<br />

hepatoblastoma, and rhabdomyosarcoma JAAD 37:523–549,<br />

1997; Am J Dis Child 122:515–519, 1971<br />

Benign joint hypermobility syndrome – arthralgia, joint<br />

dislocation, hyperextensible skin, laxity of eyelids, normal skin<br />

texture and thickness (unlike Ehlers–Danlos syndrome) J<br />

Rheumatol 13:239–243, 1986<br />

Blepharophimosis syndrome – autosomal dominant; ptosis,<br />

blepharophimosis, epicanthus inversus, telecanthus Am J<br />

Ophthalmol 72:625–631, 1971<br />

Bloom’s syndrome (congenital telangiectatic erythema and<br />

stunted growth) – autosomal recessive; slender face, prominent<br />

nose; facial telangiectatic erythema with involvement of eyelids,<br />

ear, and hand and forearms; stunted growth; CALMs, clinodactyly,<br />

syndactyly, congenital heart disease, annular pancreas, highpitched<br />

voice, testicular atrophy, no neurologic deficits Am J Hum<br />

Genet 21:196–227, 1969; AD 94:687–694, 1966<br />

Borjeson–Forssman–Lehman syndrome – ptosis Am J Med<br />

Genet 19:653–664, 1984<br />

Bowen–Armstrong syndrome (cleft lip-palate, ectodermal<br />

dysplasia, mental retardation) – ankyloblepharon Clin Genet<br />

9:35–42, 1976<br />

Cardio-facio-cutaneous syndrome (NS) – ptosis,<br />

xerosis/ichthyosis, eczematous dermatitis, alopecia, growth<br />

failure, hyperkeratotic papules, ulerythema ophryogenes<br />

(decreased or absent eyebrows), seborrheic dermatitis, CALMs,<br />

nevi, keratosis pilaris, autosomal dominant, patchy or<br />

widespread ichthyosiform eruption, sparse scalp hair and<br />

eyebrows and lashes, congenital lymphedema of the hands,<br />

redundant skin of the hands, short stature, abnormal facies,<br />

cardiac defects Ped Derm 17:231–234, 2000; JAAD 28:815–819,<br />

1993; AD 129:46–47, 1993; JAAD 22:920–922, 1990<br />

Carnevale syndrome – ptosis Am J Med Genet 33:186–189,<br />

1989<br />

Carney complex (NAME/LAMB) – myxoma JAAD 43:377–379,<br />

2000; bilateral Br J Ophthalmol 75:251–252, 1991<br />

Char syndrome (short philtrum, patulous lips, ptosis, low-set<br />

pinnae) Birth Defects 14 (6B):303–305, 1978<br />

Congenital ichthyosis, alopecia, eclabion, ectropion, mental<br />

retardation – autosomal recessive Clin Genet 31:102–108, 1987<br />

Cowden’s disease – trichilemmomas (small pebbly papules)<br />

JAAD 11:1127–1141, 1984<br />

Craniocarpotarsal dysplasia (whistling face syndrome) – ptosis<br />

J Med Genet 14:139–141, 1977<br />

Cryptophthalmos syndrome (Fraser syndrome) Am J Med<br />

Genet 31:159–168, 1988<br />

Del (13q) syndrome – ptosis Eur J Pediatr 128:27–31, 1978<br />

Deletion of short of chromosome 18 – mental and growth<br />

deficiency, microcephaly, ptosis Am J Med Genet 66:378–398,<br />

1996<br />

Delleman–Oorthuys syndrome – oculocerebrocutaneous<br />

syndrome – eyelid tag, periorbital tags, facial tags, orbital cysts,<br />

focal punched-out skin defects of the ala nasi, cerebral<br />

malformations Clin Dysmorphol 7:279–283, 1998<br />

Down’s syndrome – thickened eyelids and syringomas<br />

AD 77:319–323, 1958<br />

Dubowitz syndrome – ptosis; narrow eyelids Eur J Pediatr<br />

144:574–578, 1986<br />

Dup (10q) syndrome – ptosis Hum Genet 46:29–40, 1979<br />

Ectodermal dysplasia – ankyloblepharon, absent lower<br />

eyelashes, hypoplasia of upper lids, coloboma, seborrheic

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