Dermatologic Differential Diagnosis.pdf. - Famona Site

396 A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
Hereditary progressive mucinous histiocytosis – autosomal
dominant; skin-colored or red–brown papules; nose, hands,
forearms, thighs JAAD 35:298–303, 1996; AD 130:1300–1304,
1994
Hunter’s syndrome (mucopolysaccharidosis IIb) – X-linked
recessive; MPS type II; iduronate-2 sulfatase deficiency;
lysosomal accumulation of heparin sulfate and dermatan
sulfate; linear and reticulated 2–10 mm skin-colored papules
over and between scapulae, chest, neck, arms; also posterior
axillary lines, upper arms, forearms, chest, outer thighs; rough
thickened skin, coarse scalp hair, and hirsutism; short stature,
full lips, coarse facies with frontal bossing, hypertelorism, and
thick tongue (macroglossia); dysostosis multiplex; hunched
shoulders and characteristic posturing; widely spaced teeth,
dolichocephaly, deafness, retinal degeneration, inguinal and
umbilical hernias hepatosplenomegaly; upper and lower
respiratory infections due to laryngeal or tracheal stenosis;
mental retardation; deafness; retinal degeneration and corneal
clouding; umbilical and inguinal hernias; valvular and ischemic
heart disease with thickened heart valves lead to congestive
heart failure; clear corneas (unlike Hurler’s syndrome),
progressive neurodegeneration, communicating hydrocephalus;
adenotonsillar hypertrophy, otitis media, obstructive sleep
apnea, diarrhea Ped Derm 21:679–681, 2004; Clin Exp
Dermatol 24:179–182, 1999; Ped Derm 7:150–152, 1990
Hurler’s syndrome – scapular papules; also posterior axillary
lines, upper arms, forearms, chest, outer thighs Acta Paediatr
41:161–167, 1952
Juvenile hyaline fibromatosis (systemic hyalinosis) – translucent
papules or nodules of scalp, face, neck, trunk, gingival
hypertrophy, flexion contractures of large and small joints
Textbook of Neonatal Dermatology, p.395, 2001;
JAAD 16:881–883, 1987
Kawasaki’s syndrome – cervical lymphadenopathy
Leri–Weill dyschondrosteosis – mesomelic short stature
syndrome with Madelung’s deformity; SHOX haploinsufficiency
like Turner’s syndrome JAAD 50:767–776, 2004
Mikulicz’s syndrome – swelling of major salivary glands
Mitochondrial DNA syndrome – lipomas JAAD 39:819–823,
1998
Mucolipidoses (pseudo-Hurler polydystrophy) – connective
tissue nevus BJD 130:528–533, 1994
Multicentric reticulohistiocytosis Rook p.2325–2326, 1998,
Sixth Edition; AD 126:251–252, 1990; Oral Surg Oral Med Oral
Pathol 65:721–725, 1988; Pathology 17:601–608, 1985; JAAD
11:713–723, 1984; AD 97:543–547, 1968
Multiple endocrine neoplasia syndrome (MEN I) – lipomas
AD 133:853–857, 1997; collagenomas JAAD 42:939–969, 2000
Multiple mucosal neuroma syndrome (MEN IIB) – skin-colored
neuromas of oral mucosa, tongue, eyelids, conjunctivae,
perioral or periocular lentigines, freckles, or hyperpigmentation
Neurofibromatosis type 1
Nodular fibromatosis
Penchaszadeh syndrome (nasopalpebral lipoma–coloboma
syndrome) – eyelid lipoma Am J Med Genet 11:397–410, 1982
Polyneuropathy with nerve angiomatosis and multiple soft tissue
tumors Am J Surg Pathol 19:1325–1332, 1995
Proteus syndrome – lipomas, connective tissue nevi, lymphatic
malformations AD 140:947–953, 2004; AD 125:1109–1114, 1989
Pseudoxanthoma elasticum – multiple calcified cutaneous
nodules Am J Med 31:488–489, 1961
Rubenstein–Taybi syndrome – keloids, hypertrichosis, long
eyelashes, thick eyebrows, keratosis pilaris or ulerythema
ophyrogenes, low-set ears, very short stature, broad terminal
phalanges of thumbs and great toes, hemangiomas, nevus
flammeus, café au lait macules, pilomatrixomas, cardiac
anomalies, mental retardation Ped Derm 19:177–179, 2002; Am
J Dis Child 105:588–608, 1963
Steatocystoma multiplex
Self-healing infantile familial cutaneous mucinosis Ped Derm
14:460–462, 1997; self-healing juvenile cutaneous mucinosis –
papules, plaques, and nodules of head and trunk
JAAD 31:815–816, 1994
Multiple trichoepitheliomas
Tuberous sclerosis
Wells’ syndrome Ped Derm 14:312–315, 1997
Williams’ syndrome with granular cell tumors
Winchester syndrome – dwarfism, osteolysis, corneal opalities,
rheumatoid-like joint destruction, hypertrichosis, thickening of
skin, widespread nodular lesions JAAD 50:S53–56, 2004
Wiskott–Aldrich syndrome – parotid gland enlargement
TOXINS
Iodine poisoning – parotid swelling Ghatan p.250, 2002,
Second Edition
Lead poisoning – parotid swelling Ghatan p.250, 2002,
Second Edition
Oral mercury JAAD 39:131–133, 1997
TRAUMA
Athletes’ nodules – foot/knee/knuckle (collagenomas)
Cutis 50:131–135, 1992
Dermabrasion with osteoma cutis Rook p.2370, 1998,
Sixth Edition
Fascial hernias of the legs JAMA 145:548–549, 1951
Hematoma with osteoma cutis Rook p.2370, 1998, Sixth Edition
Lipomembranous panniculitis after air bag deployment
AD 140:231–236, 2004
Piezogenic papules or leg nodules; piezogenic wrist papules
Pseudocyst of the auricle
Puncture sites with osteoma cutis Rook p.2370, 1998,
Sixth Edition
Surfer’s nodules of anterior tibial prominence, dorsum of feet,
knuckles Cutis 50:131–135, 1992
VASCULAR
Aneurysm of the superficial temporal artery
Angiomyxoma JAAD 38:143–175, 1998
Arterial fibromuscular dysplasia; cutaneous aneurysm; pulsatile
subcutaneous nodule JAAD 27:883–885, 1992
Benign lymphangiomatous papules of the skin – skin-colored
papules JAAD 52:912–913, 2005
Churg–Strauss disease JAAD 48:311–340, 2003;
JAAD 27:821–824, 1992
Cystic hygroma (lymphatic malformation) NEJM 309:822–825,
1983; lymphatic malformation Rook p.2292, 1998, Sixth Edition
Dabska’s tumor (papillary intralymphatic angioendothelioma)
Bolognia p.1828, 2003
Epithelioid hemangioendothelioma JAAD 38:143–175, 1998
Hemangioma, including sinusoidal hemangioma; fibrous
remnant of resolved proliferating hemangioma