Dermatologic Differential Diagnosis.pdf. - Famona Site

272 A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
Centrofacial lentiginosis – synophrys, high arched palate,
sacral hypertrichosis, spina bifida, scoliosis Rook p.1719, 1998,
Sixth Edition; BJD 94:39–43, 1976
Cephalocoele – includes meningocoele (rudimentary
meningocoele), meningoencephalocele, meningomyelocele;
blue nodule with overlying hypertrichosis JAAD 46:934–941,
2002; AD 137:45–50, 2001
Coffin–Siris syndrome – autosomal recessive; hypertrichosis of
eyelashes, eyebrows, and lumbosacral areas JAAD
48:161–179, 2003
Congenital adrenal hyperplasia – hirsutism Ghatan p.68, 2002,
Second Edition
Congenital generalized hypertrichosis – X-linked JAAD
48:161–179, 2003
Congenital hairy elbows (hypertrichosis cubiti) Cutis 36:69–85,
Congenital hairy malformation of the palms and soles
Congenital hypertrichosis lanuginosa – autosomal dominant
JAAD 48:161–179, 2003
Congenital hypertrichosis lanuginosa and dental anomalies
Clin Genet 10:303–306, 1976
Congenital macrogingivae
Congenital melanocytic nevus
Congenital melanosis and hyperpigmentation Ped Derm
15:290–292, 1998
Congenital smooth muscle hamartoma JAAD 48:161–179,
2003; JAAD 46:477–490, 2002; Curr Prob Derm 14:41–70,
2002; Ped Derm 13:431–433, 1996; AD 125:820–822, 1989;
AD 121:1200–1201, 1985; AD 114:104–106, 1978
Cornelia de Lange (Brachmann–de Lange) syndrome – specific
facies, hypertrichosis of forehead, face, back, shoulders, and
extremities, synophrys; long delicate eyelashes, cutis
marmorata, skin around eyes and nose with bluish tinge, red
nose Ped Derm 19:42–45, 2002; Rook p.428, 1998, Sixth
Edition; JAAD 37:295–297, 1997; J Pediatr Ophthalmol
Strabismus 27:94–102, 1990
Craniofacial dysostosis JAAD 48:161–179, 2003
Craniofrontonasal dysplasia – widow’s peak Birth Defects
15:85–89, 1979
Cretinism – coarse facial features, lethargy, macroglossia, cold
dry skin, livedo, umbilical hernia, poor muscle tone, coarse
scalp hair, synophrys, no pubic or axillary hair at puberty Rook
p.2708, 1998, Sixth Edition
Cutaneous heterotopic meningeal nodule – Type I cutaneous
meningioma
Depigmented hypertrichosis with dilated follicular orifices
following Blaschko’s lines associated with cerebral and ocular
malformations BJD 142:1204–1207, 2000
Dermal dendrocyte hamartoma – pedunculated red nodule with
stubby white hair JAAD 32:318–321, 1995
Dermatofibrosarcoma protuberans – congenital; hair collar sign
AD 139:207–211, 2003
Dermoid cyst – central tuft of hair
Distichiasis (double row of eyelashes) – autosomal dominant
J Med Genet 13:514–515, 1976
Distichiasis and congenital anomalies of the heart and
peripheral vasculature Am J Med Genet 20:283–294, 1985
Distichiasis–lymphedema syndrome – double row of eyelashes
BJD 142:148–152, 2000; AD 135:347–348, 1999; Hum Genet
53:309–310, 1980
Donohue syndrome (leprechaunism) – forehead and cheeks
JAAD 48:161–179, 2003
dup (3q) syndrome – synophrys Birth Defects 14:191–217, 1978
Duplication of eyebrows, stretchable skin and syndactyly
Eccrine angiomatous hamartoma – vascular nodule; macule,
red plaque, acral nodule of infants or neonates; painful, red,
purple, blue, blue–brown, yellow, brown, skin-colored plaque or
macule JAAD 51:301–304, 2004; Cutis 71:449–455, 2003;
JAAD 47:429–435, 2002; JAAD 37:523–549, 1997; Ped Derm
13:139–142, 1996
Edward’s syndrome (trisomy 18) – hypertrichosis of forehead
Encephalocoele Textbook of Neonatal Dermatology, p.498, 2001;
anterior encephalocele – facial nodule JAAD 51:577–579, 2004
Epidermal nevus, linear
Epidermolysis bullosa, dystrophic – face and extremities Rook
p.2892, 1998, Sixth Edition
Erythrokeratoderma variabilis
Erythropoietic porphyria Rook p.2892, 1998, Sixth Edition
Erythropoietic protoporphyria Rook p.2892, 1998, Sixth Edition
Familial cervical hypertrichosis with underlying kyphoscoliosis
JAAD 20:1069–1072, 1989
Familial congenital anterior cervical hypertrichosis associated
with peripheral sensory and motor neuropathy
Familial hypertrichosis of the palms and soles
Familial X/Y translocation Clin Genet 24:380–383, 1983
Faun tail nevus with underlying meningocoele,
diastematomyelia, spina bifida, kyphoscoliosis, scoliosis, chest
deformities (primary faun tail deformity) (lumbosacral
hypertrichosis) (spina bifida occulta) Curr Prob Dermatol
13:249–300, 2002; AD 137:877–884, 2001
Fetal alcohol syndrome JAAD 48:161–179, 2003
Fetal folate antagonists syndrome (methotrexate) – widow’s
peak J Pediatr 72:790–795, 1968
Fetal hydantoin syndrome JAAD 48:161–179, 2003
Fetal trimethadione syndrome – synophrys Teratology
3:349–362, 1970
FG syndrome – widow’s peak Am J Med Genet 19:383–386,
1984
Fibrous hamartoma of infancy – hairy plaque on arm JAAD
41:857–859, 1999
Focal facial dermal dysplasia without other facial anomalies –
autosomal dominant; oval symmetrical scarred areas on
temples, cheeks, rim of fine lanugo hairs BJD 84:410–416, 1971
Fronto-facio-nasal dysplasia – widow’s peak Am J Med Genet
10:409–412, 1981
Frontometaphyseal dysplasia – hypertrichosis of buttocks and
thighs Radiol Clin N Am 10:225243, 1972
Fucosidosis
Gingival fibromatosis, hypertrichosis, cherubism, mental and
somatic retardation, and epilepsy (Ramon syndrome) Am J Med
Genet 25:433–442, 1986
Gingival fibromatosis–hypertrichosis syndrome
(Byars–Jurkiewicz syndrome) – autosomal dominant, autosomal
recessive; giant fibroadenomas of breast; hypertrichosis of face,
upper extremities, midback; secondary kyphosis, hypertrichosis,
gingival fibromatosis JAAD 48:161–179, 2003; Ped Derm
18:534–536, 2001; J Pediatr 67:499–502, 1965; Plast Reconstr
Surg 27:608–612, 1961
Gingival fibromatosis with distinctive facies – autosomal
recessive; macrocephaly, hypertelorism, bushy eyebrows,
synophrys, downslanted palpebral fissures, flat nasal bridge
with hypoplastic nares, cupid-bow mouth, high arched palate
Ped Derm 18:534–536, 2001
Hair collar sign
Hair collar sign and vascular stain – benign fibrous tumor,
meningothelial hamartoma, aplasia cutis congenita Ped Derm
22:200–205, 2005