Dermatologic Differential Diagnosis.pdf. - Famona Site

Dermatologic Differential Diagnosis.pdf. - Famona Site

Tricho-odonto-onycho-ectodermal dysplasia (linear dermal

hypoplasia) – hypotrichosis, hypodontia, focal linear dermal

hypoplasia of the tip of the nose, irregular hyperpigmentation

of the back, bilateral amastia and athelia, nerve hearing loss

AD 122:1047–1053, 1986

Trichothiodystrophy syndromes – BIDS, IBIDS, PIBIDS – facial

hemiatrophy, lipoatrophy, sparse or absent eyelashes and

eyebrows, brittle hair, premature aging, sexual immaturity,

ichthyosis, dysmyelination, bird-like facies, dental caries;

trichothiodystrophy with ichthyosis, urologic malformations,

hypercalciuria and mental and physical retardation Ped Derm

14:441–445, 1997; JAAD 44:891–920, 2001

Trisomy D (13–15) – membranous aplasia cutis,

holoprosencephaly, seizures, ocular abnormalities,

deafness, neural tube defects Textbook of Neonatal

Dermatology, p.127, 2001

Trisomy 13/18 – scalp defects BJD 151:953–960, 2004; thin

or atrophic nails Ghatan p.109, 2002, Second Edition

Tuberous sclerosis – hypoplasia of the hand BJD 135:1–5, 1996

Turner’s syndrome – thinning and wrinkling of palmar skin; thin

or atrophic nails Ghatan p.109, 2002, Second Edition

Twenty nail syndrome – atrophic nails Ghatan p.114, 2002,

Second Edition

Unusual facies, lipodystrophy, joint contractures (Werner-like

disorder) Hum Genet 83:209–216, 1989

Van der Woude syndrome – congenital lower lip pits

Vertebral and eye anomalies, cutis aplasia, and short stature

(VECS) Am J Med Genet 77:225–227, 1998

Werner’s syndrome – loss of subcutaneous tissue; bird-like

facies, spindly legs Am J Med 108:143–152, 2000; AD

124:90–101, 1988

Wiedemann–Rautenstrauch (neonatal progeroid syndrome) –

generalized lipoatrophy, macrocephaly, premature aging,

wide open sutures, hypoplasia of facial bones, low-set ears,

beak shaped nose, neonatal teeth, slender limbs, large

hands and feet with long fingers, large penis J Med Genet

34:433–437, 1997

Williams syndrome – premature laxity of skin, congenital heart

disease (supravalvular aortic stenosis), baggy eyes, full cheeks,

prominent lips, dental malocclusion, delayed motor skills,

cocktail party personality J Pediatr 113:318–326, 1988

Wolf–Hirschhorn syndrome (del (4p) syndrome) – midline scalp

defect BJD 151:953–960, 2004; Am J Med Genet 21:351–358,


Wrinkly skin syndrome – wrinkled skin on abdomen and dorsal

aspects of hands and feet, increase palmoplantar creases,

prominent venous pattern on chest, mental retardation,

microcephaly, hypotonia, musculoskeletal abnormalities Am J

Med Genet 101:213–220, 2001; Ped Derm 16:113–117, 1999

X-p22 microdeletion syndrome – bilateral reticulated and linear

defects of malar region of face, microphthalmia, sclerocornea

Textbook of Neonatal Dermatology, p.127, 2001

Xeroderma pigmentosum Ghatan p.5, 2002, Second Edition


Acupuncture – atrophic round scars BJD 150:364, 2004

Amniocentesis dimples Am J Obstet Gynecol 126:247–252,

1976; JAAD 39:888–890, 1998; AD 120:1360–1362, 1984

Compression from tight fitting clothes – lipoatrophy JAAD

45:325–361, 2001

IVDA – skin popping BJD 150:1–10, 2004

Injury due to obstetric forceps or scalp electrodes

Physical trauma – atrophic nails Ghatan p.114, 2002,

Second Edition

Post-injection lipoatrophy JAAD 45:325–361, 2001

Radiation dermatitis, chronic




Acrocyanosis with atrophy AD 124:263–268, 1988

Atherosclerosis and other vascular disorders – atrophic nails

Ghatan p.114, 2002, Second Edition

Atrophie blanche (livedo with ulceration) – ivory white plaque

of sclerosis with stippled telangiectasias and surrounding

hyperpigmentation; venous insufficiency, thalassemia minor

Acta DV (Stockh) 50:125–128, 1970; cryoglobulinemia,

systemic lupus erythematosus, scleroderma Rook p.2216,2249,

1998, Sixth Edition; Arch Pathol Lab Med 110:517–519, 1986;

JAAD 8:792–798, 1983; AD 119:963–969, 1983

Cutis marmorata telangiectatica congenita – facial or limb

hypoplasia JAAD 48:950–954, 2003; Ped Derm 17:100–104,

2000; JAAD 20:1098–1104, 1989

Degos’ disease (malignant atrophic papulosis) – white atrophic

papules BJD 139:708–712, 1998; AD 128:255–260, 1992; lower

extremity hypoplasia Turk J Pediatr 43:159–161, 2001

Edema – acute leg edema; stria-like distension of skin AD

138:641–642, 2002

Glomerulovenous malformation – atrophic patch with redundant

skin Soc Ped Derm Annual Meeting, July 2005

Hemangiomas, resolved – atrophy, telangiectasia, redundant

skin Rook p.554, 1998, Sixth Edition

Rapidly involuting congenital hemangioma (RICH) – residual

patch of thing skin with prominent veins after involution JAAD

50:875–882, 2004

Raynaud’s phenomenon – atrophic nails Ghatan p.114, 2002,

Second Edition

Servelle–Martorell syndrome – association of capillary stains

and dysplastic veins with undergrowth of affected limb Curr

Prob Dermatol 13:249–300, 2002; Textbook of Neonatal

Dermatology, p.333, 2001

Takayasu’s arteritis – post-granulomatous anetoderma AD

123:796–800, 1987

Varicose veins – acquired localized elastolysis Clin Exp

Dermatol 20:492–495, 1995



Bazex–Dupré–Christol syndrome (X-linked dominant) – milia

and comedo-like papules, hypotrichosis, anhidrosis of face and

head, follicular (vermiculate) atrophoderma of the face, elbows

and hands; basal cell carcinomas resemble nevi; multiple

follicular hamartomas with sweat gland and sebaceous

differentiation Derm Surg 26:152–154, 2000; Ped Derm

16:108–110, 1999; JAAD 39:853–857, 1998; AD 130:337–342,

1994; Ann Dermatol Syphilgr (Paris) 93:241–254, 1966

Coarse sparse hair and milia syndrome JAAD 50:489–494, 2004

Multiple hereditary non-syndromic basal cell carcinomas JAAD

50:489–494, 2004

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

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