dermatitis, cribriform scrotal atrophy, ectropion, lacrimal duct
hypoplasia, malaligned great toenails, gastroesophageal reflux,
ear infections, laryngeal cleft, dental anomalies, scalp hair coarse
and curly, sparse eyebrows, xerosis, hypohidrosis, short nose
absent philtrum, flat upper lip
BJD 152:365–367, 2005
Ectrodactyly–ectodermal dysplasia–cleft lip/palate syndrome
(EEC syndrome) – chronic blepharitis
Ped Derm 20:113–118,
2003
Encephalocranial lipomatosis – linear yellow papules of
forehead extending to eyelids; ophthalmologic manifestations;
seizures, mental retardation; mandibular or maxillary ossifying
fibromas and odontomas
Ped Derm 22:206–209, 2005; JAAD
47:S196–200, 2002; Am J Med Genet 191:261–266, 2000;
JAAD 37:102–104, 1998; BJD 104:89–96, 1981
Epidermal nevus syndrome – pedunculated eyelid papules
JAAD 50:957–961, 2004
Eyelid cysts, hypodontia and hypotrichosis
JAAD 10:922–925,
1984
Familial dyskeratotic comedones
Fetal alcohol syndrome – narrow eyelids
Drug Alcohol Depend
14:1–10, 1984
FG syndrome (unusual facies, mental retardation, congenital
hypotonia, imperforate anus) – short narrow eyelids
Am J Med
Genet 19:383–386, 1984
Floppy eyelid syndrome – eversion of lids during sleep
BJD
151:706, 2004
Frydman syndrome – autosomal recessive; prognathism,
syndactyly, short stature, blepharophimosis, weakness of
extraocular and frontal muscles, synophrys
Clin Genet
41:57–61, 1992
Goldenhaar syndrome – mandibulofacial dysostosis
Rook
p.2980, 1998, Sixth Edition
Hereditary angioneurotic edema (Quincke’s edema)
Hereditary gelsolin amyloidosis (AGel amyloidosis) – cutis laxa
with blepharochalasis, corneal lattice dystrophy, cranial and
peripheral polyneuropathy
BJD 152:250–257, 2005
Kabuki makeup syndrome – short stature, distinct face (long
palpebral fissures, eversion of the lower eyelids (ectropion),
sparse arched lateral eyebrows, prominent ears) fetal finger
pads, mental retardation
Am J Med Genet 94:170–173, 2000;
Am J Med Genet 31:565–589, 1988; J Pediatr 105:849–850,
1984; J Pediatr 99:565–569, 1981
Leprechaunism (Donohue’s syndrome) – ptosis, decreased
subcutaneous tissue and muscle mass, characteristic facies,
severe intrauterine growth retardation, broad nose, low-set ears,
hypertrichosis of forehead and cheeks, loose folded skin at
flexures, gyrate folds of skin of hands and feet; breasts, penis,
clitoris hypertrophic
Endocrinologie 26:205–209, 1988
Lipoid granulomatosis (Erdheim–Chester disease) – yellow
eyelid papules
Ghatan p.58, 2002, Second Edition
Lipoid proteinosis – papules along the lash margin
Int J Derm
39:203–204, 2000; Eyelid and Conjunctival Tumors, Shields JA
and Shields CL, Lippincott Williams and Wilkins p.177, 1999;
Rook p.2641, 1998, Sixth Edition; Acta Paediatr 85:1003–1005,
1996; JAAD 27:293–297, 1992
Lymphedema–distichiasis syndrome – periorbital edema,
vertebral abnormalities, spinal arachnoid cysts, congenital heart
disease, thoracic duct abnormalities, hemangiomas, cleft
palate, microphthalmia, strabismus, ptosis, short stature,
webbed neck
Ped Derm 19:139–141, 2002
Marcus Gunn phenomenon (winking jaw syndromes) – ptosis
Am J Ophthalmol 82:503–504, 1976
MAUIE syndrome – micropinnae, alopecia, ichthyosis, and
ectropion
JAAD 37:1000–1002, 1997
Melkersson–Rosenthal syndrome – granulomatous blepharitis
Ophthalmology 104:1185–1189, 1997
MEN IIB – thickened eyelid margins
AD 139:1647–1652, 2003
JAAD 42:939–969, 2000
MEN type III – eyelid papules – plexiform neuromas
JAAD
36:296–300, 1997
Moebius syndrome – ptosis
J Med Genet 14:415–417, 1977
Multicentric reticulohistiocytosis – multiple papules
Eyelid and
Conjunctival Tumors, Shields JA and Shields CL, Lippincott
Williams and Wilkins p.149, 1999
Multiple pterygium syndrome – ptosis
Am J Med Genet
7:91–102, 1980
Myotonic dystrophy (Steinert syndrome) – ptosis
J Pediatr
81:83–86, 1972
Neu–Laxova syndrome – rudimentary eyelids, polyhydramnios,
growth retardation, microcephaly, ichthyosis, thick
hyperkeratotic skin
Am J Med Genet 43:602–605, 1992
Neurofibromatosis type I – plexiform neurofibroma of the eyelids
J Maxillofac Surg 12:78–85, 1984
Neutral lipid storage disease (Dorfman–Chanarin syndrome)
–
autosomal recessive; at birth collodion baby or ichthyosiform
erythroderma; thereafter pattern resembles non-bullous
ichthyosiform erythroderma; hypohidrosis; ectropion;
palmoplantar hyperkeratosis, WBC vacuoles, myopathy, fatty
liver, CNS disease, deafness
BJD 144:430–432, 2001; JAAD
17:801–808, 1987; AD 121:1000–1008, 1985
Nevoid basal cell carcinoma (Gorlin’s) syndrome – eyelid
lesions
JAAD 11:98–104, 1984; AD 114:95–97, 1978; Birth
Defects 8:140–148, 1971
Nevus sebaceus syndrome
Dermatologica 181:221–223, 1990
Noonan syndrome – ptosis
J Med Genet 24:9–13, 1987
Oculo-auricular vertebral syndrome – epibulbar dermoid tumors
Ped Derm 20:182–184, 2003
Pallister–Killian syndrome – ptosis
J Clin Dysmorphol 1:2–3,
1983
Penchaszadeh syndrome (nasopalpebral lipoma–coloboma
syndrome) – eyelid lipoma
Am J Med Genet 11:397–410, 1982
Popliteal pterygium syndrome – autosomal dominant; eyelid
adhesions, bilateral popliteal pterygia, intercrural pterygium,
hypoplastic digits, valgus or varus foot deformities, syndactyly,
cryptorchidism, inguinal hernia, cleft scrotum, lower lip pits,
mucous membrane bands
J Med Genet 36:888–892, 1999; Int J
Pediatr Otorhinolaryngol 15:17–22, 1988
Ptosis–aortic coarctation syndrome
J Pediatr Surg 22:724–726,
1987
Ptosis and unusual facies
Am J Med Genet 7:5–9, 1980
Rapp–Hodgkin hypohidrotic ectodermal dysplasia – autosomal
dominant; alopecia of wide area of scalp in frontal to crown
area, short eyebrows and eyelashes, coarse wiry sparse
hypopigmented scalp hair, sparse body hair, scalp dermatitis,
ankyloblepharon, syndactyly, nipple anomalies, cleft lip and/or
palate; nails narrow and dystrophic, small stature, hypospadius,
conical teeth and anodontia or hypodontia; distinctive facies,
short stature
JAAD 53:729–735, 2005; Ped Derm 7:126–131,
1990; J Med Genet 15:269–272, 1968
Restrictive dermopathy – autosomal recessive, swollen eyelids,
erythroderma at birth, with extensive erosions and contractures;
taut shiny skin; fetal akinesia, multiple joint contractures,
dysmorphic facies with fixed open mouth, hypertelorism,
pulmonary hypoplasia, bone deformities; uniformly fatal
Ped
Derm 19:67–72, 2002; Ped Derm 16:151–153, 1999; AD
134:577–579, 1998; AD 128:228–231, 1992
Robinow syndrome (fetal face syndrome) – ankyloblepharon
Clin Genet 31:77–85, 1987
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