Ptosis – congenital, aging, Horner’s syndrome, third nerve
palsy, myasthenia gravis, myotonic dystrophy, Ehlers–Danlos
syndrome; Frydman syndrome (ptosis with blepharophimosis,
epicanthus inversus and telecanthus)
Seborrheic blepharitis
The Clinical Management of Itching;
Parthenon; p.35, 2000; Rook p.2990, 1998, Sixth Edition
Vitiligo
PSYCHOCUTANEOUS DISEASE
Factitial dermatitis
Br J Ophthalmol 82:97, 1998
SYNDROMES
Aarskog syndrome – ptosis
Birth Defects 11:25–29, 1975
Ablepharon macrostomia – absent eyelids, ectropion, abnormal
ears, rudimentary nipples, dry redundant skin, macrostomia,
ambiguous genitalia
Hum Genet 97:532–536, 1996
Ablepharon with follicular ichthyosis and hairy pinnae
Clin
Genet 2:111–114, 1971
Acrocallosal syndrome (Greig cephalopolysyndactyly
syndrome) – abnormal upper lids, frontonasal dysostosis,
callosal agenesis, cleft lip/palate, redundant skin of neck,
grooved chin, bifid thumbs, polydactyly, syndactyly
Am J Med
Genet 43:938–941, 1992
Acrocraniofacial dysostosis – ptosis
Am J Med Genet
29:95–106, 1988
Acrofacial dysostosis (Reynolds syndrome) – ptosis
Am J Med
Genet Suppl 2:143–150, 1986
AEC syndrome (Hay–Wells syndrome) – ankyloblepharon,
ectodermal dysplasia, cleft lip/palate syndrome – eyelid
papillomas, periorbital wrinkling
Textbook of Neonatal
Dermatology, p.468, 2001; Ped Derm 14:149–150, 1997
Anhidrotic ectodermal dysplasia – folds and creases of upper
and lower eyelids
J Med Genet 38:579–585, 2001; Am J Med
Genet 53:153–162, 1994
Ankyloblepharon – AEC (Hay–Wells) syndrome, ADULT
syndrome, EEC syndrome, Limb–mammary syndrome
JAAD
47:805, 2002
Ankyloblepharon with cleft palate
Br J Ophthalmol 63:129, 1969
Ascher’s syndrome – blepharochalasis with progressive
enlargement of upper lip; increased thickness of eyelids
AD
139:1075–1080, 2003; JAAD 29:650–651, 1993; Ped Derm
8:122–123, 1991; BJD 66:129–138, 1954; Klin Monatsbl
Augenheilkd 65:86–97, 1920
Ataxia telangiectasia – telangiectasias of eyelids, bulbar
conjunctivae, tip of nose, ears, antecubital and popliteal fossae,
dorsal hands and feet; atrophy with mottled hypo- and
hyperpigmentation, dermatomal CALMs, photosensitivity,
canities, acanthosis nigricans, dermatitis; cutaneous
granulomas present as papules or nodules, red plaques with
atrophy or ulceration
Rook p.2095,1998, Sixth Edition; JAAD
10:431–438, 1984; Ann Intern Med 99:367–379, 1983
Barber–Say syndrome – ablepharon, ectropion of lower
eyelids, hypertrichosis, atrophic skin
Am J Med Genet
47:20–23, 1993
Basaloid follicular hamartoma syndrome – multiple
skin-colored, red, and hyperpigmented papules of the face,
neck chest, back, proximal extremities, and eyelids; syndrome
includes milia-like cysts, comedones, sparse scalp hair, palmar
pits, and parallel bands of papules of the neck (zebra stripes)
JAAD 43:189–206, 2000
Beckwith–Wiedemann syndrome (Exomphalos–Macroglossia–
Gigantism) (EMG) syndrome – autosomal dominant; zosteriform
rash at birth, exomphalos, macroglossia, visceromegaly, facial
salmon patch of forehead, upper eyelids, nose, and upper lip
and gigantism; linear earlobe grooves, circular depressions of
helices; increased risk of Wilms’ tumor, adrenal carcinoma,
hepatoblastoma, and rhabdomyosarcoma
JAAD 37:523–549,
1997; Am J Dis Child 122:515–519, 1971
Benign joint hypermobility syndrome – arthralgia, joint
dislocation, hyperextensible skin, laxity of eyelids, normal skin
texture and thickness (unlike Ehlers–Danlos syndrome)
J
Rheumatol 13:239–243, 1986
Blepharophimosis syndrome – autosomal dominant; ptosis,
blepharophimosis, epicanthus inversus, telecanthus
Am J
Ophthalmol 72:625–631, 1971
Bloom’s syndrome (congenital telangiectatic erythema and
stunted growth) – autosomal recessive; slender face, prominent
nose; facial telangiectatic erythema with involvement of eyelids,
ear, and hand and forearms; stunted growth; CALMs, clinodactyly,
syndactyly, congenital heart disease, annular pancreas, high-
pitched voice, testicular atrophy, no neurologic deficits
Am J Hum
Genet 21:196–227, 1969; AD 94:687–694, 1966
Borjeson–Forssman–Lehman syndrome – ptosis
Am J Med
Genet 19:653–664, 1984
Bowen–Armstrong syndrome (cleft lip-palate, ectodermal
dysplasia, mental retardation) – ankyloblepharon
Clin Genet
9:35–42, 1976
Cardio-facio-cutaneous syndrome (NS) – ptosis,
xerosis/ichthyosis, eczematous dermatitis, alopecia, growth
failure, hyperkeratotic papules, ulerythema ophryogenes
(decreased or absent eyebrows), seborrheic dermatitis, CALMs,
nevi, keratosis pilaris, autosomal dominant, patchy or
widespread ichthyosiform eruption, sparse scalp hair and
eyebrows and lashes, congenital lymphedema of the hands,
redundant skin of the hands, short stature, abnormal facies,
cardiac defects
Ped Derm 17:231–234, 2000; JAAD 28:815–819,
1993; AD 129:46–47, 1993; JAAD 22:920–922, 1990
Carnevale syndrome – ptosis
Am J Med Genet 33:186–189,
1989
Carney complex (NAME/LAMB) – myxoma
JAAD 43:377–379,
2000; bilateral Br J Ophthalmol 75:251–252, 1991
Char syndrome (short philtrum, patulous lips, ptosis, low-set
pinnae)
Birth Defects 14 (6B):303–305, 1978
Congenital ichthyosis, alopecia, eclabion, ectropion, mental
retardation – autosomal recessive
Clin Genet 31:102–108, 1987
Cowden’s disease – trichilemmomas (small pebbly papules)
JAAD 11:1127–1141, 1984
Craniocarpotarsal dysplasia (whistling face syndrome) – ptosis
J Med Genet 14:139–141, 1977
Cryptophthalmos syndrome (Fraser syndrome)
Am J Med
Genet 31:159–168, 1988
Del (13q) syndrome – ptosis
Eur J Pediatr 128:27–31, 1978
Deletion of short of chromosome 18 – mental and growth
deficiency, microcephaly, ptosis
Am J Med Genet 66:378–398,
1996
Delleman–Oorthuys syndrome – oculocerebrocutaneous
syndrome – eyelid tag, periorbital tags, facial tags, orbital cysts,
focal punched-out skin defects of the ala nasi, cerebral
malformations
Clin Dysmorphol 7:279–283, 1998
Down’s syndrome – thickened eyelids and syringomas
AD 77:319–323, 1958
Dubowitz syndrome – ptosis; narrow eyelids
Eur J Pediatr
144:574–578, 1986
Dup (10q) syndrome – ptosis
Hum Genet 46:29–40, 1979
Ectodermal dysplasia – ankyloblepharon, absent lower
eyelashes, hypoplasia of upper lids, coloboma, seborrheic
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