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Dermatologic Differential Diagnosis.pdf. - Famona Site

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Coats’ disease – cutaneous telangiectasia or unilateral macular<br />

telangiectatic nevus with retinal telangiectasia AD 108:413–415,<br />

1973<br />

Cockayne’s syndrome – autosomal recessive; short stature,<br />

facial erythema in butterfly distribution leading to mottled<br />

pigmentation and atrophic scars, premature aged appearance<br />

with loss of subcutaneous fat and sunken eyes, canities, mental<br />

deficiency, photosensitivity, disproportionately large hands, feet,<br />

and ears, ocular defects, demyelination J Med Genet<br />

18:288–293, 1981<br />

Congenital hemangioma of eccrine sweat glands Ped Derm<br />

10:341–343, 1993<br />

Congenital neuroangiopathies<br />

Congenital poikiloderma<br />

Cutis marmorata telangiectatica congenita – telangiecatasias<br />

may be prominent at birth BJD 137:119–122, 1997;<br />

JAAD 20:1098–1104, 1989; AD 118:895–899, 1982<br />

Diffuse neonatal hemangiomatosis<br />

Dyskeratosis congenita JAAD 6:1034–1039, 1982<br />

Essential progressive telangiectasia<br />

Fabry’s disease – linear perioral telangiectasia AD<br />

126:1544–1545, 1990; telangiectasis of axillae and upper chest<br />

JAAD 46:161–183, 2002<br />

Fanconi’s anemia<br />

Fucosidosis J Pediatr 84:727–780, 1974; with angiokeratoma<br />

corporis diffusum on telangiectatic background Genital Skin<br />

Disorders, Fischer and Margesson, CV Mosby p.198, 1998<br />

Generalized essential telangiectasia – familial or acquired Cutis<br />

75:223–224, 2005; Rook p.2096, 1998, Sixth Edition; JAAD<br />

37:321–325, 1997; JAMA 185:909–913, 1963<br />

Gingival and labial telangiectasia Syndromes of the Head and<br />

Neck, p.119, 1990<br />

Goltz’s syndrome<br />

Hallermann–Streiff syndrome<br />

Hemochromatosis – spider telangiectasias AD 113:161–165,<br />

1977; Medicine 34:381–430, 1955<br />

Hereditary acrolabial telangiectasia – blue lips, blue nails,<br />

blue nipples, telangiectasia of the chest, elbows, knees, feet,<br />

dorsa of hands, varicosities of the legs, migraine headaches<br />

AD 115:474–478, 1979<br />

Hereditary benign telangiectasia – autosomal dominant; lips,<br />

neck, trunk, arms, hands, and knees Ped Derm 6:194–197,<br />

1989; Trans St John’s Hosp Dermatol Soc 57:148–156, 1971<br />

Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu<br />

disease) Rook p.2091, 1998, Sixth Edition; Am J Med<br />

82:989–997, 1987; gingival, oral telangiectasia Oral Surg<br />

66:440–444, 1988<br />

Homocystinuria<br />

I-cell disease (mucolipidosis II) – puffy eyelids; small orbits,<br />

prominent eyes, fullness of lower cheeks; small telangiectasias;<br />

fish-mouth appearance, short neck; gingival hypertrophy<br />

Textbook of Neonatal Dermatology, p.446, 2001; Clin Genet<br />

23:155–159, 1983; Am J Med Genet 9:239–253, 1981; Birth<br />

Defects 5:174–185, 1969<br />

Incontinentia pigmenti – linear and macular telangiectasias<br />

Dermatol Wochenschr 153:489–496, 1967<br />

Klinefelter variants – macular telangiectatic vascular nevi J Urol<br />

119:103–106, 1978<br />

Klippel–Trenaunay–Weber syndrome Syndromes of the Head<br />

and Neck, p.380, 1990<br />

Lethal multiple pterygium syndrome – mid-facial macular<br />

telangiectatic nevi Am J Med Genet 12:377–409, 1982<br />

TELANGIECTASIAS 637<br />

Linear telangiectatic erythema and mild atrophoderma Cutis<br />

39:69–70, 1987<br />

Maffucci’s syndrome<br />

Morquio’s syndrome Rook p.2625, 1998, Sixth Edition<br />

Multiple endocrine neoplasia syndrome (MEN I) –<br />

telangiectasias on face and lips AD 133:853–857, 1997<br />

Non-involuting congenital hemangioma (NICH) – warm high-flow<br />

lesion with coarse telangiectasias over surface; less commonly<br />

ulcerated Plast Reconstr Surg 107:1647–1654, 2001<br />

Nevus araneus (spider telangiectasia)<br />

Nevus flammeus<br />

Odonto-onycho-dermal dysplasia – telangiectatic atrophic patches<br />

of face, sparse hair, conical teeth, hyperkeratosis of palms and<br />

soles, dystrophic nails Am J Med Genet 14:335–346, 1983<br />

Pre-auricular skin defects AD 133:1551–1554, 1997<br />

Prolidase deficiency – autosomal recessive; skin spongy and<br />

fragile with annular pitting and scarring; leg ulcers;<br />

photosensitivity, telangiectasia, purpura, premature graying,<br />

lymphedema Ped Derm 13:58–60, 1996; JAAD 29:819–821,<br />

1993; AD 127:124–125, 1991; AD 123:493–497, 1987<br />

Rapidly involuting congenital hemangioma (RICH) – palpable<br />

tumor with pale rim, coarse overlying telangiectasia with central<br />

depression or ulcer; Ped Dev Pathol 6:495–510, 2003; Ped<br />

Derm 19:5–11, 2002<br />

Rombo syndrome – acral erythema, cyanotic redness, follicular<br />

atrophy (atrophoderma vermiculata), milia-like papules,<br />

telangiectasias, red ears with telangiectasia, thin eyebrows,<br />

sparse beard hair, basal cell carcinomas, short stature BJD<br />

144:1215–1218, 2001<br />

Rothmund–Thomson syndrome (poikiloderma congenitale) –<br />

autosomal recessive Am J Med Genet 22:102:11–17, 2001; Ped<br />

Derm 18:210212, 2001; Ped Derm 16:59–61, 1999; Dermatol<br />

Clin 13:143–150, 1995; JAAD 27:75–762, 1992<br />

Schinzel–Giedion syndrome – autosomal recessive; ectodermal<br />

dysplasia; midface retraction, hirsutism, telangiectasias of nose<br />

and cheeks, skeletal anomalies, mental retardation Hum Genet<br />

62:382, 1982; Am J Med Genet 1:361–375, 1978<br />

Short arm 4 deletion syndrome – macular telangiectatic<br />

vascular nevi Am J Dis Child 122:421–425, 1971<br />

Sturge–Weber syndrome<br />

Telangiectasias, spondyloepiphyseal dysplasia, hypothyroidism,<br />

neovascularization, and tractional retinal detachments Ped<br />

Derm 6:178–184, 1989<br />

Trichothiodystrophy syndromes – BIDS, IBIDS, PIBIDS –<br />

telangiectasias, sparse or absent eyelashes and eyebrows,<br />

brittle hair, premature aging, sexual immaturity, ichthyosis,<br />

dysmyelination, bird-like facies, dental caries;<br />

trichothiodystrophy with ichthyosis, urologic malformations,<br />

hypercalciuria and mental and physical retardation<br />

JAAD 44:891–920, 2001; Ped Derm 14:441–445, 1997<br />

Unilateral nevoid telangiectasia Rook p.2091, 1998,<br />

Sixth Edition<br />

Vascular malformations, congenital<br />

Vascular nevi Rook p.2091, 1998, Sixth Edition<br />

Von Hippel–Lindau disease – macular telangiectatic nevi,<br />

facial or occipitocervical; retinal angiomatosis, cerebellar or<br />

medullary or spinal hemangioblastoma, renal cell carcinoma.<br />

Pheochromocytoma, café au lait macules Arch Intern Med<br />

136:769–777, 1976<br />

Werner’s syndrome<br />

Wyburn–Mason (Bonnet–Duchaume–Blanc) syndrome –<br />

unilateral salmon patch with punctate telangiectasias or port<br />

wine stain; unilateral retinal arteriovenous malformation,

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