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Dermatologic Differential Diagnosis.pdf. - Famona Site

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408 A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1<br />

C syndrome – hemangiomas Birth Defects 5:161–166, 1969<br />

Cardio-facio-cutaneous syndrome (Noonan-like short stature<br />

syndrome) (NS) – xerosis/ichthyosis, eczematous dermatitis,<br />

growth failure, hyperkeratotic papules, ulerythema ophyrogenes,<br />

seborrheic dermatitis, CALMs, nevi, keratosis pilaris, autosomal<br />

dominant, patchy or widespread ichthyosiform eruption, sparse<br />

curly short scalp hair and eyebrows and lashes, hemangiomas,<br />

acanthosis nigricans, congenital lymphedema of the hands,<br />

redundant skin of the hands, short stature, abnormal facies,<br />

cardiac defects JAAD 46:161–183, 2002; Ped Derm<br />

17:231–234, 2000; JAAD 22:920–922, 1990; JAAD 28:815–819,<br />

1993; AD 129:46–47, 1993; port wine stain Clin Genet<br />

42:206–209, 1992<br />

Classic arthrogryphosis:amyoplasia – extensive proliferative<br />

hemangioma of the face<br />

Congenital generalized fibromatosis JAAD 10:365–371, 1984<br />

Cowden’s syndrome (multiple hamartoma syndrome) –<br />

angiomas JAAD 17:342–346, 1987<br />

Edward’s syndrome (trisomy 18) – capillary hemangiomas<br />

J Med Genet 15:48–60, 1978<br />

Epidermal nevus syndrome – hemangiomas Ped Derm<br />

6:316–320, 1989<br />

Fetal alcohol syndrome – short stature, angiomas, hypertrichosis<br />

JAAD 46:161–183, 2002; Ped Derm 11:178–180, 1994<br />

Goltz’s syndrome (focal dermal hypoplasia) – asymmetric linear<br />

and reticulated streaks of atrophy and telangiectasia; yellow–red<br />

nodules; raspberry-like papillomas of lips, perineum, acrally, at<br />

perineum, buccal mucosa; xerosis; scalp and pubic hair sparse<br />

and brittle; short stature; asymmetric face; syndactyly,<br />

polydactyly; ocular, dental, and skeletal abnormalities with<br />

osteopathia striata of long bones JAAD 25:879–881, 1991<br />

Gorham’s syndrome (hemangiomas with osteolysis)<br />

(disappearing bone disease) – cutaneous vascular lesions with<br />

replacement of bone by venous malformations Am J Dis Child<br />

132:715–716, 1978; AD 92:501–508, 1965; with<br />

Kasabach–Merritt syndrome JAAD 29:117–119, 1993<br />

Hemangiomas of the face and anterior trunk associated with<br />

sternal clefting, median abdominal raphe (sternal malformation<br />

vascular dysplasia syndrome) Ped Derm 10:71–76, 1993;<br />

Am J Med Genet 21:177–186, 1985<br />

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

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

82:989–997, 1987; NEJM 257:105–109, 1957<br />

Hereditary neurocutaneous angioma (vascular malformations) –<br />

hemangiomas, macular vascular anomalies; intracranial<br />

arteriovenous malformations Clin Genet 33:44–48, 1988<br />

Hereditary phlebectasia of the lips<br />

Hypomelia, hypotrichosis, facial hemangioma syndrome<br />

(pseudothalidomide syndrome) – sparse silvery blond hair<br />

Am J Dis Child 123:602–606, 1972<br />

Infantile hemangiomatosis<br />

Kassabach–Merritt syndrome – associated with Kaposiform<br />

hemangioendothelioma or tufted angioma; enlargement,<br />

tenderness, induration, and ecchymosis occur within the<br />

vascular lesion; consumptive coagulopathy with hemorrhage<br />

Ped Derm 11:79–81, 1994<br />

Klippel–Trenaunay–Weber syndrome Rook p.586, 1998,<br />

Sixth Edition; Clin Exp Derm 12:12–17, 1987<br />

Lipoid proteinosis<br />

Lumbosacral hemangiomas, tethered cord and multiple<br />

congenital anomalies (occult spinal dysraphism) Pediatrics<br />

83:977–980, 1989; AD 122:684–687, 1986; sacral<br />

hemangiomas, imperforate anus, genitourinary developmental<br />

defects AD 122:684–687, 1986<br />

Macrocephaly with cutis marmorata, hemangioma, and<br />

syndactyly syndrome – macrocephaly, hypotonia,<br />

hemihypertrophy, hemangioma, cutis marmorata<br />

telangiectatica congenita, internal arteriovenous<br />

malformations, syndactyly, joint laxity, hyperelastic skin,<br />

thickened subcutaneous tissue, developmental delay, short<br />

stature, hydrocephalus Ped Derm 16:235–237, 1999; Clin<br />

Dysmorphol 6:291–302, 1997<br />

Maffucci’s syndrome – enchondromas and hemangiomas Ped<br />

Derm 12:55–58, 1995; BJD 96:317–322, 1977<br />

Melorheostosis – cutaneous lesions resemble linear morphea<br />

overlying bony lesions (endosteal bony densities resembling<br />

candle wax) with angiomas and arteriovenous abnormalities<br />

J Bone and Joint Surg 61:415–418, 1979; BJD 86:297–301, 1972<br />

Muir–Torre syndrome<br />

Multiple cutaneous hemangiomas, right aortic arch, and<br />

coarctation of the aorta<br />

Neurofibromatosis Neurofibromatosis 1:137–145, 1988<br />

Ollier’s syndrome – enchondromas only J Neurol 235:376–378,<br />

1988<br />

Pallister–Hall syndrome – hemangiomas Am J Med Genet<br />

7:75–83, 1980<br />

Patau syndrome (trisomy 13) – hemangiomas of forehead;<br />

localized scalp defects G Ital DV 121:25–28, 1986; J Genet<br />

Hum 23:83–109, 1975<br />

PHACES syndrome – posterior fossa malformation<br />

(Dandy–Walker malformation), large facial hemangiomas,<br />

arterial anomalies, coarctation of the aorta and other cardiac<br />

defects (atrial septal defect), eye abnormalities, sternal clefting<br />

or supraumbilical raphe J Pediatr 139:117–123, 2001;<br />

AD 132:307–311, 1996; J Pediatr 122:379–384, 1993;<br />

Ped Derm 5:263–265, 1988<br />

Phakomatosis pigmentovascularis type IV A AD 121:651–5, 1985<br />

POEMS syndrome – cutaneous angiomas, blue dermal<br />

papules associated with Castleman’s disease (benign<br />

reactive angioendotheliomatosis), diffuse hyperpigmentation,<br />

morphea-like changes, maculopapular brown–violaceous<br />

lesions, purple nodules JAAD 44:324–329, 2001, JAAD<br />

21:1061–1068, 1989; JAAD 12:961–964, 1985, AD<br />

124:695–698, 1988, Cutis 61:329–334, 1998; JAAD<br />

40:808–812, 1999; glomeruloid hemangioma – lesion of<br />

multicentric Castleman’s disease associated with POEMS<br />

syndrome; intralesional protein deposits BJD 148:1276–1278,<br />

2003; Am J Surg Pathol 14:1036–1046, 1990<br />

Proteus syndrome – port wine stains, subcutaneous<br />

hemangiomas and lymphangiomas, lymphangioma<br />

circumscriptum, hemihypertrophy of the face, limbs, trunk;<br />

macrodactyly, cerebriform hypertrophy of palmar and/or plantar<br />

surfaces, macrocephaly; verrucous epidermal nevi, sebaceous<br />

nevi with hyper- or hypopigmentation AD 140:947–953, 2004;<br />

Am J Med Genet 27:99–117, 1987; vascular nevi, soft<br />

subcutaneous masses; lipodystrophy, café au lait<br />

macules, linear and whorled macular pigmentation<br />

JAAD 25:377–383, 1991; Pediatrics 76:984–989, 1985;<br />

Am J Med Genet 27:87–97, 1987; Eur J Pediatr<br />

140:5–12, 1983<br />

Reflex sympathetic dystrophy – pseudo-Kaposi’s sarcoma Cutis<br />

68:179–182, 2001<br />

Roberts pseudothalidomide syndrome – superficial capillary<br />

hemangiomas of the midface, forehead, ears Prog Clin Biol<br />

Res 104:351–356, 1982<br />

Rubinstein–Taybi syndrome – multiple hemangiomas;<br />

hypogonadotropic hypogonadism; autosomal dominant;<br />

mutations or deletions of chromosome 16p13.3; human cAMP

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