Cowden’s syndrome – trichilemmomas (wart-like papules),
especially periorificial facial papules
JAAD 49:698–705, 2003;
Curr Prob Derm 14:41–70, 2002; Nat Genet 13:114–116, 1996;
Dermatol Clin 13:27–31, 1995; AD 122:821, 824–825, 1986
Cri du chat syndrome (chromosome 5, short arm deletion
syndrome) – premature graying of the hair, pre-auricular skin
tag with low-set malformed ears
J Pediatr 102:528–533, 1983
Deletion of short arm of chromosome 4 (4p- syndrome) – ACC
of scalp with hypertelorism, beaked or broad nose,
microcephaly, low-set ears, pre-auricular tags or pits, mental
retardation
Am J Dis Child 122:421–425, 1971
Delleman–Oorthuys syndrome – oculocerebrocutaneous
syndrome – eyelid tag, periorbital tags, pre-auricular, post-
auricular skin tags; facial tags, orbital cysts, focal punched-out
skin defects of the ala nasi, microphthalmia, eyelid coloboma,
cerebral abnormalities, seizures, developmental delay
Clin
Dysmorphol 7:279–283, 1998; Am J Ophthalmol 99:142–148,
1985
Dermochondrocorneal dystrophy
AD 124:424–428, 1988
Down’s syndrome – milia-like idiopathic calcinosis cutis
BJD
134:143–146, 1996
EEC syndrome – perioral papillomatosis
Ped Derm
19:330–332, 2002
Encephalocraniocutaneous lipomatosis – lipomas, lipofibromas,
connective tissue nevi – facial papules and/or nodules
JAAD
37:102–104, 1998; Ped Derm 10:164–168, 1993
Epidermodysplasia verruciformis
Facial and neck papillomas, acanthosis nigricans,
macrocephaly, mental retardation, cerebral angiomatosis
AD
128:1378–1386, 1992
Familial sea-blue histiocytosis – autosomal recessive; patchy
gray pigmentation of face, upper chest, shoulders; eyelid
edema, facial nodules
Dermatologica 174:39–44, 1987
Farber’s disease (lipogranulomatosis)
Pediatr Rev 11
(9):262–267, 1990
Fibrodysplasia ossificans progressive
François syndrome (dermochondrocorneal dystrophy) – knuckle
pads; nodules on hands, nose, and ears
AD 124:424–428,
1988; Ann DV 104:475–478, 1977
Goldenhaar’s syndrome – oculoauriculovertebral syndrome –
accessory tragi (preauricular tags); ocular lipodermoids,
epibulbar dermoids; multiple vertebral anomalies,
gastrointestinal anomalies, microphthalmia, anophthalmia,
colobomata, genital anomalies, micrognathia, microtia, cleft
lip/palate, hemifacial microsomia, urologic anomalies, cardiac
anomalies, pulmonary anomalies
JAAD 50:S11–13, 2004
Goltz’s syndrome – wart-like lesions on face and groin
Haber’s syndrome – rosacea-like acneform eruption with
erythema, telangiectasia, prominent follicles, comedones, small
papules, atrophic pitted scars; with keratotic plaques of the
trunk and extremities
AD 103:452–455, 1971; BJD 77:1–8, 1965
Hemifacial microsomia syndrome – preauricular tags
Hereditary progressive mucinous histiocytosis – yellow
dome-shaped papules of face, gingiva, hard palate
BJD
141:1101–1105, 1999
Infantile systemic hyalinosis – autosomal recessive; red facial
papules, synophrys, thickened skin, perianal nodules, dusky red
plaques of buttocks, gingival hypertrophy, joint contractures,
juxta-articular nodules (knuckle pads), osteopenia, growth
failure, diarrhea, frequent infections
JAAD 50:S61–64, 2004
Juvenile hyaline fibromatosis (Murray–Puretic syndrome) –
autosomal recessive; translucent pearly white papules or
nodules of scalp, face, neck, trunk, gingival hypertrophy, larger
papules and nodules around nose, behind ears, on fingertips,
multiple subcutaneous nodules of scalp, trunk, and extremities,
flexion contractures of large and small joints papillomatous
perianal papules; joint contractures, skeletal lesions, gingival
hyperplasia, stunted growth, sclerodermiform atrophy; CMG2
(capillaray morphogenesis gene 2) gene
Ped Derm
21:154–159, 2004; Textbook of Neonatal Dermatology,
p.444–445, 2001; Arch Ped 4:1200–1204, 1997; JAAD
16:881–883, 1987; perinasal and fold of chin Ped Derm
6:68–75, 1989
Lipoid proteinosis – yellow–brown nodules of face
Int J Derm
39:203–204, 2000; Acta Paediatr 85:1003–1005, 1996; JAAD
27:293–297, 1992; crusted red papules of face heal with
scarring
Ped Derm 22:266–267, 2005; Arch Pathol Anat
273:286–319, 1929
Muir–Torre syndrome – autosomal dominant; sebaceous
adenomas, sebaceous carcinomas, keratoacanthomas
Cutis
75:149–155, 2005; Curr Prob Derm 14:41–70, 2002; BJD
136:913–917, 1997; JAAD 33:90–104, 1995; JAAD 10:803–817,
1984; AD 98:549–551, 1968; Br J Surg 54:191–195, 1967
Multicentric reticulohistiocytosis
AD 126:251–252, 1990
Multiple endocrine neoplasia syndrome (MEN I) (Wermer’s
syndrome) – angiofibromas of face and nose
JAAD 42:939–969,
2000; JAAD 41:890–892, 1999; AD 133:853–857, 1997
Multiple eccrine-pilar hamartomas with basal cell carcinomas –
multiple follicular hamartomas, vermiculate atrophoderma, milia,
hypotrichosis, and basal cell carcinomas
JAAD 39:853–857,
1998
Multiple hereditary infundibulocystic basal cell carcinomas
JAAD 51:989–995, 2004
Neurofibromatosis
Nevoid basal cell carcinoma syndrome (Gorlin’s syndrome) –
autosomal dominant; papules of the face, neck, and trunk,
calcifications of the brain, palmoplantar pits, mandibular
keratocysts, skeletal anomalies, basal cell carcinomas; also
medulloblastomas, ovarian tumors, astrocytomas,
meningiomas, craniopharyngiomas, fibrosarcomas,
ameloblastomas
Int J Oral Maxillofac Surg 33:117–124, 2004;
Am J Med Genet 69:299–308, 1997; JAAD 39:853–857, 1998;
Dermatol Clin 13:113–125, 1995; JAAD 11:98–104, 1984; AD
114:95–97, 1978; Birth Defects 8:140–148, 1971
Pfeiffer syndrome – pre-auricular tag, syndactyly,
craniosynostosis, broad great toes, gingival hypertrophy
Z
Kinderheilkd 90:301–320, 1964
Proteus syndrome – facial nodule
Reticular erythematous mucinosis (REM) syndrome
Rombo syndrome – papules and cysts of the face and trunk,
basal cell carcinomas, vermiculate atrophoderma, milia,
hypotrichosis, trichoepitheliomas, peripheral vasodilatation with
cyanosis
JAAD 39:853–857, 1998
Sakati syndrome – patchy alopecia with atrophic skin above
ears, submental linear scars, acrocephalopolysyndactyly, short
limbs, congenital heart disease, abnormally shaped low-set ears,
ear tag, short neck with low hairline
J Pediatr 79:104–109, 1971
Schnitzler’s syndrome – urticaria and IgM monoclonal
paraprotein
Steatocystoma multiplex – facial papular variant
AD 131:835,838, 1995
Townes–Brocks syndrome – lop ears, preauricular tags
Dysmorphol Clin Genet 2:104–108, 1988
Treacher Collins syndrome – facial skin tags
Tuberous sclerosis – adenoma sebaceum (angiofibromas)
JAAD 49:698–705, 2003; BJD 147:337–342, 2002; JAAD
45:731–735, 2001; Derm Surg 27:486–488, 2001; J Child
Neurol 13:624–628, 1998; BJD 135:1–5, 1996; JAAD
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