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Dermatologic Differential Diagnosis.pdf. - Famona Site

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Type 9 – ACC as feature of malformation syndromes<br />

Trisomy 13 – ACC of scalp with holoprosencephaly, eye<br />

anomalies, cleft lip and/or palate, polydactyly, port wine<br />

stain of forehead Am J Dis Child 112:502–517, 1966<br />

Deletion of short arm of chromosome 4 (4p- syndrome) –<br />

ACC of scalp with hypertelorism, beaked or broad nose,<br />

microcephaly, low-set ears, pre-auricular tags or pits,<br />

mental retardation Am J Dis Child 122:421–425, 1971<br />

Oculocerebrocutaneous syndrome (Delleman–Oorthuys<br />

syndrome) – ACC of scalp, neck, lumbosacral area; orbital<br />

cysts, microphthalmia, skull defects, porencephaly,<br />

agenesis of corpus callosum, skin tags around eyes and<br />

nose Am J Med Genet 40:290–293, 1991<br />

Johanson–Blizzard syndrome – autosomal recessive;<br />

growth retardation, microcephaly, ACC of scalp, sparse<br />

hair, hypoplastic ala nasi, CALMs, hypoplastic nipples and<br />

areolae, hypothyroidism, sensorineural deafness<br />

Clin Genet 14:247–250, 1978<br />

Focal dermal hypoplasia<br />

Facial focal dermal dysplasias<br />

Autosomal dominant focal facial dermal dysplasia without<br />

other facial anomalies – oval symmetrical scarred areas<br />

on temples, cheeks, rim of fine lanugo hairs BJD<br />

84:410–416, 1971<br />

Autosomal recessive focal facial dermal dysplasia<br />

without other facial anomalies JAAD 27:575–58, 1992<br />

Focal facial dermal dysplasia with other facial anomalies<br />

(Setleis syndrome) – leonine aged facies with absent<br />

eyelashes, eyebrows, puckered periorbital skin, scar-like<br />

defects of temples AD 110:615–618, 1974<br />

Amniotic band syndrome<br />

Congenital erosive and vesicular dermatosis with reticulate<br />

supple scarring<br />

Lumpy scalp, odd ears, and rudimentary nipples<br />

BJD 99:423–430, 1978<br />

ACC with nipple and breast hypoplasia, nail dysplasia,<br />

delayed dentition Am J Med Genet 14:381–384, 1983<br />

ACC with tricho-odonto-onychodermal ectodermal dysplasia<br />

BJD 105:371–382, 1981<br />

ACC with EEC Minerva Pediatr 34:627–632, 1982 and<br />

AEC syndromes Ped Derm 10:334–340, 1993<br />

ACC with intestinal lymphangiectasia Am J Dis Child<br />

139:509–513, 1985<br />

ACC with 46,XY gonadal dysgenesis, cleft lip and palate, ear<br />

deformity and pre-auricular pits J Pediatr 97:586–590, 1980<br />

Dellemann syndrome (oculocerebrocutaneous syndrome)<br />

J Med Genet 25:773–778, 1988<br />

Atopic dermatitis<br />

Congenital erosive dermatosis with reticulated supple scarring –<br />

most infants premature; extensive symmetrical erosions with<br />

scattered vesicles; scarring with hypohidrosis, patchy alopecia,<br />

hypoplastic nails AD 126:544–546, 1990<br />

Congenital localized abscence of skin in epidermolysis bullosa<br />

(Bart’s syndrome) AD 128:1087–1090, 1992<br />

Epidermolysis bullosa, multiple types<br />

Erythema of Jacquet – erosive diaper dermatitis; shallow, round<br />

ulcers with raised edges Rook p.470, 1998, Sixth Edition<br />

Febrile ulceronecrotic Mucha–Habermann disease (acute<br />

parapsoriasis) – painful hemorrhagic ulcers BJD 152:794–799,<br />

2005; JAAD 49:1142–1148, 2003; AD 100:200–206, 1969<br />

Lichen planus AD 93:692–701, 1966; ulcerative lichen planus of<br />

the soles Acta DV 81:378–379, 2001; AD 127:405–410, 1991;<br />

Acta DV 66:366–367, 1986; AD 93:692–671, 1966<br />

Lichen sclerosus et atrophicus BJD 144:387–392, 2001<br />

Lichen simplex chronicus<br />

Reactive perforating collagenosis<br />

PSYCHOCUTANEOUS DISEASE<br />

Factitial dermatitis Ped Derm 21:205–211, 2004; NEJM<br />

347:1412–1418, 2002; Klin Wochenschr 64:149–164, 1986;<br />

JAAD 11:1065–1069, 1984; factitial panniculitis – ulcers of the<br />

thigh and buttocks JAAD 2:47–55, 1980<br />

Neurotic excoriations<br />

Self-mutilation<br />

SYNDROMES<br />

ULCERS 659<br />

Acro-osteolysis associated with spinal dysraphism – blister,<br />

ulcers of the foot, hyperhidrosis of the affected limb Ped Derm<br />

18:97–101, 2001<br />

Adams–Oliver syndrome – aplasia cutis congenita of scalp and<br />

transverse limb defects Ped Derm 15:48–50, 1998<br />

Antiphospholipid antibody syndrome NEJM 347:1412–1418,<br />

2002; Semin Arthritis Rheum 31:127–132, 2001; JAAD<br />

36:149–168, 1997; JAAD 36:970–982, 1997; Semin Thromb<br />

Hemost 20:71–78, 1994; JAAD 15:211–219, 1986; eschar and<br />

ulceration JAAD 47:766–769, 2002; IgA antiphospholipid<br />

antibodies J Rheumatol 25:1730–1736, 1998; ulcer resembling<br />

pyoderma gangrenosum J La State Med Soc 147:357–361,<br />

1995; lupus anticoagulant – pyoderma gangrenosum-like<br />

Dermatology 189:182–184, 1994<br />

Ataxia telangiectasia – ulcerated plaque of cutaneous<br />

granuloma of ataxia telangiectasia AD 134:1145–1150, 1998<br />

Behçet’s syndrome – extragenital ulcers JAAD 36:689–696, 1997<br />

Carpal tunnel syndrome Dermatology 201:165–167, 2000<br />

Charcot–Marie–Tooth syndrome – neurotrophic ulcer<br />

Chediak–Higashi syndrome Rook p.2742, 1998, Sixth Edition<br />

Congenital insensitivity to pain Cutis 51:373–374, 1993<br />

Congenital sensory neuropathy with anhidrosis (self-multilation)<br />

AD 124:564–566, 1988<br />

Ectodermal dysplasias<br />

Ehlers–Danlos syndrome<br />

Familial dysautonomia (Riley–Day syndrome)<br />

Flynn–Aird syndrome – skin atrophy, ulceration, alopecia, and<br />

dental caries J Neurol Sci 2:161–182, 1965<br />

Goltz’s syndrome Ghatan p.199, 2002, Second Edition<br />

Hereditary sensory and autonomic neuropathy type I-V<br />

(congenital insensitivity to pain) – ulcers with self-mutilation<br />

Ped Derm 19:333–335, 2002<br />

Hereditary sensory radicular neuropathy<br />

Hyper-IgM syndrome – diaper area ulcers Ped Derm 18:48–50,<br />

2001<br />

Hypereosinophilic syndrome, idiopathic Blood 83:2759–2779,<br />

1994; digital ulcers Semin Dermatol 14:122–128, 1995<br />

Johanson–Blizzard syndrome – aplasia cutis congenita of the<br />

scalp, sparse hair, deafness, absence of permanent tooth buds,<br />

hypoplastic ala nasi, dwarfism, microcephaly, mental<br />

retardation, hypotonia, pancreatic insufficiency with<br />

malabsorption, hypothyroidism, genital and rectal anomalies<br />

Clin Genet 14:247–250, 1978; J Pediatr 79:982–987, 1971<br />

Lesch–Nyhan syndrome – X-linked recessive;<br />

hypoxanthineguanine phosphoribosyltransferase deficiency;<br />

self-mutilation; biting of lower lip AD 94:194–195, 1966<br />

Lumpy scalp syndrome – autosomal dominant; scalp ulcers at<br />

birth heal as irregular scalp nodules; deformed pinnae,<br />

rudimentary nipples Clin Exp Dermatol 15:240, 1989<br />

Marfan-like phenotype – deep skin ulcers JAAD 35:814–818, 1996<br />

Neutrophilic dermatosis (pustular vasculitis of the dorsal hands)<br />

(variant of Sweet’s syndrome) – ulcers AD 138:361–365, 2002

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