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Dermatologic Differential Diagnosis.pdf. - Famona Site

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Multiple follicular hamartomas with sweat gland and sebaceous<br />

differentiation, vermiculate atrophoderma, milia, hypotrichosis<br />

and late development of basal cell carcinomas JAAD<br />

39:853–857, 1998<br />

Myotonic dystrophy – frontal balding – muscle wasting,<br />

weakness, cataracts, expressionless face, testicular atrophy<br />

JAAD 37:268–269, 1997<br />

Netherton’s syndrome – trichorrhexis invaginata (bamboo hair) –<br />

increased hair fragility with crewcut appearance AD 135:823–832,<br />

1999; BJD 141:1097–1100, 1999; Ped Derm 14:473–476, 1997;<br />

Ped Derm 13:183–199, 1996; BJD 131:615–619, 1994; Ped Derm<br />

9:158–160, 1992; AD 78:483–487, 1958<br />

Neutral lipid storage disease (Chanarin–Dorfman disease) –<br />

autosomal recessive; focal or diffuse alopecia; congenital nonbullous<br />

ichthyosiform erythroderma, collodion baby; seborrheic<br />

dermatitis-like rash of face and scalp; leukonychia;<br />

erythrokeratoderma variabilis-like presentation; mutation in<br />

ABHD5 which encodes protein of esterase/lipase/thioesterase<br />

subfamily BJD 153:838–841, 2005<br />

Noonan’s syndrome – webbed neck, short stature, malformed<br />

ears, nevi, keloids, transient lymphedema, ulerythema<br />

ophyrogenes, keratosis follicularis spinulosa decalvans<br />

JAAD 46:161–183, 2002; Rook p.3016, 1998, Sixth Edition;<br />

Ped Derm 15:18–22, 1998; J Med Genet 24:9–13, 1987<br />

Oculo-auricular vertebral syndrome – epibulbar dermoid tumors,<br />

abnormal hair, short neck Ped Derm 20:182–184, 2003<br />

Oculo-dento-osseous (oculo-dento-digital) dysplasia – sparse<br />

scalp hair, eyebrows and eyelashes sparse or absent, small<br />

closely set sunken eyes, small mouth, enamel hypoplasia<br />

producing yellow teeth, syndactyly, camptodactyly, iris<br />

anomalies, hypertelorism J Pediatr 63:69–75, 1963<br />

Oculo-osteocutaneous syndrome – sparse, fair hair, limb and<br />

digit abnormalities, hypoplastic nipples, abnormal genitalia Ped<br />

Derm 19:226, 2002<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 />

Odonto-onychodysplasia with alopecia – small widely spaced<br />

teeth, brittle fingernails, supernumerary nipples, palmoplantar<br />

hyperkeratosis Cien Cult 33 (Suppl):696, 1981<br />

Odonto-trichomelic syndrome – autosomal recessive; severe<br />

hypotrichosis, few small conical teeth, hypoplastic or absent<br />

areolae, cleft lip, tetramelic dysplasia, short stature Hum<br />

Hered 22:91–95, 1972<br />

Olmsted syndrome – diffuse alopecia or sparse hair anteriorly<br />

JAAD 5F3:s266–272, 2005; Ped Derm 21:603–605, 2004; Ped<br />

Derm 20:323–326, 2003; BJD 136:935–938, 1997; AD<br />

132:797–800, 1996; AD 131:738–739, 1995; Semin Dermatol<br />

14:145–151, 1995; JAAD 10:600–610, 1984; Am J Dis Child<br />

33:757–764, 1927<br />

Omenn syndrome – alopecia of scalp and eyebrows; erythroderma<br />

Ped Derm 17:91–96, 2000; Ped Derm 14:49–52, 1997<br />

Onycho-trichodysplasia with chronic neutropenia Birth Defects<br />

11:63–66, 1975<br />

Oral–facial–digital syndrome type I (Papillon–Leage syndrome) –<br />

short upper lip, hypoplastic alanasi, hooked pug nose,<br />

hypertrophied labial frenulae, bifid or multilobed tongue with small<br />

tumors within clefts, clefting of hard and soft palate, teeth widely<br />

spaced, trident hand or brachydactyly, syndactyly, or polydactyly;<br />

hair dry and brittle, diffuse alopecia, numerous milia of face, ears,<br />

backs of hands, mental retardation Ped Derm 9:52–56, 1992<br />

Oral–facial–digital syndrome – X-linked dominant<br />

oral–facial–digital syndrome – hairless streaks along Blaschko’s<br />

lines Am J Med Genet 85:324–329, 1999<br />

ALOPECIA 37<br />

Pachyonychia congenita – occasional sparse scalp hair Ped Derm<br />

19:226, 2002; Am J Dermatopathol 19:180–184, 1997<br />

Pallister–Killian syndrome – i (12p) (tetrasomy 12p); tissue<br />

mosaicism; pigmentary mosaicism and localized alopecia<br />

Ped Derm 22:270–275, 2005<br />

Palmoplantar keratoderma (PPK) with atrichia/hypotrichosis<br />

Atrichia, PPK (Bazex-like), mental retardation, and early loss<br />

of teeth Ped Derm 19:226, 2002; JAAD 30:89–898, 1994<br />

Alopecia congenita with keratosis palmoplantaris Act Genet<br />

Statis Med 9:127–132, 1959<br />

Clouston syndrome Can Med Assoc J 40:1–7, 1939<br />

Fitzsimmons syndrome Clin Genet 23:329–335, 1983<br />

Schopf syndrome Birth Defects 7:219–221 1971<br />

Richner Hanhart syndrome<br />

Olmsted syndrome<br />

Alopecia, onychodysplasia, hypohidrosis, deafness<br />

Hum Hered 27:127–133, 1977<br />

Hereditary PPK, congenital alopecia, onychodystrophy,<br />

enamel dysplasia Hautarzt 25:8–16, 1970<br />

Hereditary focal transgressive palmoplantar keratoderma –<br />

autosomal recessive; hyperkeratotic lichenoid papules of<br />

elbows and knees, psoriasiform lesions of scalp and groin,<br />

spotty and reticulate hyperpigmentation of face, trunk, and<br />

extremities, alopecia of eyebrows and eyelashes BJD<br />

146:490–494, 2002<br />

PPK, hypotrichosis, leukonychia totalis BJD 133:636–638, 1995<br />

Punctate palmoplantar keratoderma – fine scalp hair Ped Derm<br />

19:226, 2002<br />

Keratoderma, hypotrichosis, and leukonychia totalis – dry,<br />

brittle, sparse hair Ped Derm 19:226, 2002<br />

Palmoplantar keratoderma, large ears, sparse hypopigmented<br />

scalp hair, frontal bossing Ped Derm 19:224–228, 2002<br />

Papillon–Lefevre syndrome<br />

Pili torti, acne conglobata, early-onset cataracts BJD 91<br />

(Suppl 10):54–57, 1974<br />

Pili torti, defective teeth, webbed fingers JAAD 46:301–303, 2002<br />

POEMS syndrome (Takatsuki syndrome, Crowe–Fukase<br />

syndrome) – osteosclerotic bone lesions, peripheral<br />

polyneuropathy, hypothyroidism and hypogonadism JAAD<br />

21:1061–1068, 1989; Cutis 61:329–334, 1998; cicatricial<br />

alopecia with underlying plasmacytoma JAAD 40:808–812, 1999<br />

Poland’s chest wall deformity – breast and pectoralis<br />

muscle hypoplasia; absence of axillary hair, ipsilateral<br />

syndactyly, dermatoglyphic abnormalities Plast Reconstr<br />

Surg 99:429–436, 1997<br />

Polycystic brain associated with ectodermal dysplasia –<br />

thin hair, brain cysts, irregular retinal pigment epithelium,<br />

dystrophic nails, dental abnormalities Pediatr Radiol<br />

24:116–118, 1994<br />

Polyostotic fibrous dysplasia – scarring alopecia AD<br />

112:715–719, 1976<br />

Popliteal pterygium syndrome<br />

Primary hypogonadism and partial alopecia<br />

Proteus syndrome AD 140:947–953, 2004<br />

Rapp-Hodgkin hypohidrotic ectodermal dysplasia –<br />

autosomal dominant; alopecia of wide area of scalp<br />

in frontal to crown area, short eyebrows and eyelashes,<br />

coarse wiry sparse hypopigmented scalp hair, sparse<br />

body hair, scalp dermatitis, ankyloblepharon, syndactyly, nipple<br />

anomalies, cleft lip and/or palate; nails narrow and dystrophic,<br />

small stature, hypospadius, conical teeth and anodontia<br />

or hypodontia; distinctive facies, short stature JAAD<br />

53:729–735, 2005; Ped Derm 7:126–131, 1990;<br />

J Med Genet 15:269–272, 1968

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