Dermatologic Differential Diagnosis.pdf. - Famona Site

Kabuki makeup syndrome – short stature, distinct face (long
palpebral fissures, eversion of the lower eyelids, sparse arched
lateral eyebrows, prominent malformed ears), cutis laxa,
hyperextensible joints, syndactyly, fetal finger pads with
abnormal dermatoglyphics, mental retardation JAAD
S247–251, 2005; 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
Lenz–Majewski hyperostotic syndrome – cutis laxa, skeletal
anomalies and ambiguous genitalia
Leprechaunism (Donohue syndrome) – cutis laxa-like wrinkling
Am J Dis Child 122:442–445, 1971
Marfan’s syndrome – lax skin in the neonate
Marshall’s syndrome – Sweet’s syndrome followed by cutis
laxa AD 131:1175–1177, 1995; following Sweet’s syndrome
(α1-antitrypsin deficiency) Ped Derm 14:370, 1994
Menkes’ kinky hair syndrome – loose skin Ped Derm
14:347–350, 1997; silvery hair, generalized hypopigmentation,
lax skin of brows, neck and thighs Ped Derm 15:137–139, 1998
Michelin tire baby syndrome
Neurofibromatosis
Noonan’s syndrome – lax skin JAAD 46:161–183, 2002; Curr
Prob Derm VII:143–198, 1995; J Pediatr 66:48–63, 1965
Occipital horn syndrome Clin Dysmorphol 8:179–183, 1999
Patterson–David syndrome – pseudoleprechaunism
Premature aging with short stature and pigmented nevi
(Baraitser syndrome)
Progeria AD 125:540–544, 1989
Prune belly syndrome (aplastic abdominal musculature
syndrome)
SCARF syndrome – ambiguous genitalia associated with
skeletal abnormalities, cutis laxa, joint hyperextensibility,
webbed neck, craniostenosis, psychomotor retardation, and
facial abnormalities Am J Med Genet 34:305–312, 1989
Soto’s syndrome – joint hyperextensibility; cutis laxa; cerebral
gigantism J Med Genet 36:51–56, 1999
Sweet’s syndrome – healed AD 119:998–1002, 1983
Thrombocytopenia–absent radius syndrome (TAR syndrome) –
cutis laxa of the neck; congenital thrombocytopenia, bilateral
absent or hypoplastic radii, port wine stain of head and neck
AD 126:1520–1521, 1990; Am J Pediatr Hematol Oncol
10:51–64, 1988
Tricho-rhino-phalangeal syndrome type II (Langer–Giedion
syndrome) – loose, redundant, wrinkled skin early; facies,
bulbous nose, and sparse hair as in TRPS-I – microcephaly,
exostoses Birth Defects X:147–164, 1974
Trisomy 13 (Patau syndrome) – neck
Trisomy 18 – redundant skin, rocker-bottom feet, clenched fist
Turner’s syndrome (XO in 80%) – peripheral edema at birth
which resolves by age 2; redundant neck skin in newborn; cutis
laxa of neck and buttocks; small stature, broad shield-shaped
chest with widely spaced nipples, arms show wide carrying
angle, webbed neck, low posterior hairline, low misshapen ears,
high arched palate, short fourth and fifth metacarpals and
metatarsals, hypoplastic nails, keloid formation, increased
number of nevi; skeletal, cardiovascular, ocular abnormalities;
increased pituitary gonadotropins with low estrogen levels
JAAD 50:767–776, 2004; JAAD 40:877–890, 1999
Weaver syndrome – prenatal overgrowth syndrome Am J Dis
Child 138:1113–1115, 1984
Werner’s syndrome
Wiedemann–Rautenstrauch syndrome (neonatal
pseudohydrocephalic progeroid syndrome of
Wiedemann–Rautenstrauch) Clin Genet 51:200–204, 1997;
Eur J Pediatr 136:245–248, 1981
Wrinkly skin syndrome – autosomal recessive Clin Genet
38:307–313, 1990; same as cutis laxa with growth and
developmental delay Am J Med Genet 85:194, 1999
VASCULAR LESIONS
CYSTS, WITH OR WITHOUT DRAINAGE 127
Edema – recovery from severe edema
Varicose veins – acquired localized elastolysis Clin Exp
Dermatol 20:492–495, 1995
CYSTS, WITH OR WITHOUT
DRAINAGE
AUTOIMMUNE DISEASES, AND DISEASES
OF IMMUNE DYSFUNCTION
Scleroderma – soft cystic nodules (focal mucinosis) over
interphalangeal joints BJD 136:598–600, 1997
CONGENITAL ANOMALIES
Branchial cleft cyst and/or sinus – cyst overlying anterior border
of the sternocleidomastoid muscle Textbook of Neonatal
Dermatology, p.119, 2001; Int J Oral Maxillofac Surg
25:449–452, 1996; Int J Dermatol 19:479–486, 1980; differential
diagnosis includes malignant or tuberculous lymphadenopathy,
parotid or thyroid tumor, thymopharyngeal cyst, thyroglossal
cyst, dermoid cyst, teratoma, carotid body tumor, hemangioma,
neurofibroma
Bronchogenic cyst – keratotic papule, sinus tract or cyst in
midline at the suprasternal notch, neck, shoulders, back or
chest Textbook of Neonatal Dermatology, p.120, 2001; Ped
Derm 15:277–281, 1998; Int J Derm 37:137–140, 1998;
JAAD 31:120–122, 1994; subcutaneous bronchogenic cyst
J Pediatr Surg 23:993–995, 1988
Cervicothymic cyst – resembles branchial cleft cyst
Congenital sinus or cyst of genitoperineal raphe (mucous cysts
of the penile skin) Eichenfeld p.89, 2001; Cutis 34:495–496,
1984; AD 115:1084–1086, 1979
Cutaneous ciliated cyst Ghatan p.18, 2002, Second Edition
Cyst of first branchial cleft (congenital postauricular swelling)
Ped Derm 19:246–249, 2002
Dermoid cyst – midline of nose, lateral eyebrow, scrotum,
sternum, perineal raphe and sacral areas Textbook of Neonatal
Dermatology, p.122, 2001; Curr Prob Derm 8:137–188, 1996;
Neurosurg Clin North Am 6:359–366, 1995; AD 107:237–239,
1973
Diastrophic dysplasia – cystic masses of ears
Ectopic respiratory epithelium BJD 136:933–934, 1997
Encephalocele Ped Neurosurg 27:214–217, 1997
Epstein’s pearls – keratinous cysts of palatal or alveolar mucosa
in neonates Int Dent J 27:261–262, 1988
Foreskin cysts Eichenfeld, 2001, p.89
Heterotopic brain tissue – bald cyst of the scalp – hair collar
sign AD 125:1253–1256, 1989
Heterotopic salivary gland tissue JAAD 31:120–122, 1994
Hypotrichosis, eyelid cysts and hypodontia
Laryngocele/pharyngocele with external component Am Fam
Physician 42:665–668, 1990