Dermatologic Differential Diagnosis.pdf. - Famona Site

126 A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
Blepharochalasis (Fuchs syndrome) Hautarzt 29:474–477, 1978
Cutis laxa Ped Derm 19:412–414, 2002; JAAD 29:846–848,
1993, Ped Derm 2:282–288, 1985
Inherited (dermatochalasis connata)
Autosomal dominant Clin Genet 39:321–329, 1991
Autosomal recessive
X-linked dominant (occipital horn syndrome (formerly
Ehlers–Danlos syndrome type IX)
Transient neonatal
Acquired – associated with:
Type 1 – generalized acquired elastolysis
Complement deficiency AD 123:1211–1216, 1987
Drug hypersensitivity
Inflammatory skin disease
Klippel–Trenaunay–Weber syndrome
Malignancy
Multiple myeloma Cutis 57:267–270, 1996;
Am J Dermatopathol 18:533–537, 1996
Penicillamine dermatopathy AD 125:92–97, 1989
Sarcoid JAAD 29:846–848, 1993
Systemic lupus erythematosus
Syphilis
Type 2 – Marshall’s syndrome – Sweet’s syndrome followed
by cutis laxa AD 131:1175–1177, 1995
Acrolocalized acquired cutis laxa BJD 134:973–976,
1996; JAAD 21:33–40, 1989
Elastoderma – localized skin laxity of the neck, trunk or arm
JAAD 53:S147–149, 2005; JAAD 33:389–392, 1995
Elastolysis of the earlobes JAAD 14:145–146, 1986
Elastosis perforans serpiginosa with pseudoxanthoma
elasticum-like changes in Moya-Moya disease (bilateral stenosis
and occlusion of basa intracranial vessels and carotid arteries)
BJD 153:431–434, 2005
Lichen myxedematosus Cutis 39:219–223, 1987
Multiple benign ring-shaped skin creases Eur J Ped
138:301–3,1982
Pseudoxanthoma elasticum – linear and reticulated yellow
papules and plaques JAAD 42:324–328, 2000; JAAD
43:337–339, 2000; Dermatology 199:3–7, 1999; AD
133:664–666, 1997; AD 124:1559, 1988; acquired
pseudoxanthoma elasticum – farmers exposed to saltpeter
(calcium-ammonium-nitrate salts); antecubital fossa JAAD
51:1–21, 2004; Acta DV 78:153–154, 1998; Acta DV
58:319–321, 1978; periumbilical perforating pseudoxanthoma
elasticum JAAD 51:1–21, 2004; JAAD 26:642–644, 1992;
AD 115:300–303, 1979
SYNDROMES
Ablepharon macrostomia syndrome with cutis laxa Hum Genet
97:532–536, 1996
Acrogeria of the Gottron type Eur J Dermatol 10:36–40, 2000
Alagille syndrome – cutis laxa-like changes with resolution of
xanthomas after liver transplantation Ped Derm 15:199–202, 1998
Ankyloblepharon–ectrodactyly–cleft lip/palate syndrome
(AEC syndrome) – periorbital wrinkling
Ascher syndrome Int J Derm 31:710–712, 1992
Barber–Say syndrome – autosomal dominant; wrinkled lax,
atrophic skin, hypertrichosis of back and neck, eyebrows,
eyelashes, lower lid ectropion, large mouth, and abnormal
external ears, hypoplastic or absent nipples, growth retardation
Am J Med Genet 86:54–56, 1999
Beare–Stevenson cutis gyrata syndrome – redundant loose
facial skin
Cantu syndrome
Chromosome 6q deletion syndrome – cutaneous and joint laxity
Ped Derm 11:281–282, 1994
Coffin–Lowry syndrome – X-linked inheritance; straight coarse
hair, prominent forehead, prominent supraorbital ridges,
hypertelorism, large nose with broad base, thick lips with mouth
held open, large hands, tapering fingers, severe mental
retardation; loose skin easily stretched, cutis marmorata,
dependent acrocyanosis, varicose veins Clin Genet
34:230–245, 1988; Am J Dis Child 112:205–213, 1966
Costello syndrome – loose skin of neck, hands and feet;
papillomas around nose and mouth J Med Genet
31:486–489, 1994
Cutis laxa – autosomal dominant; mild disease of late onset;
mutation in elastin gene AD 140:1135–1139, 2004; Ped Derm
21:167–170, 2004; Clin Genet 39:321–329, 1991
Cutis laxa type I – autosomal recessive; diaphragmatic hernia,
gastrointestinal and genitourinary diverticulae, pulmonary
emphysema, cardiac abnormalities Ped Derm 21:167–170, 2004
Cutis laxa type II – autosomal recessive; pre and postnatal
growth retardation, delayed motor development, delayed closure
of large fontanelle, congenital hip dislocation, bone dysplasias,
parallel strips of redundant skin of back Ped Derm 21:167–170,
2004
Cutis laxa type III – autosomal recessive; severe mental
retardation, corneal clouding Ped Derm 21:167–170, 2004
Cutis laxa – X-linked recessive (occipital horn syndrome;
formerly Ehlers–Danlos type IX) – lysyl oxidase deficiency,
skeletal dysplasias, joint hypermobility, chronic diarrhea,
obstructive uropathy Ped Derm 21:167–170, 2004
Cutis laxa, congenital with ligamentous laxity, delayed
development, Dandy–Walker malformation, minor heart and
osseous defects Clin Genet 45:318–322, 1994
Cutis laxa with bone dystrophy (osteoporosis) Am J Dis Child
137:452–454, 1983
Cutis laxa, craniofacial defects, and hypotonia J Clin
Dysmorphol 1:24–25, 1983
Cutis laxa with early-onset emphysema Thorax 49:836–837,
1994
Cutis laxa, late closure of fontanels, intrauterine growth
retardation, hyperlaxity of joints Pediatrics 72:850–856, 1983
DeBarsy syndrome – autosomal recessive progeroid syndrome;
lax wrinkled skin; cloudy corneas, mental retardation,
pseudoathetoid movements, synophrys, pinched nose, thin skin,
lack of subcutaneous tissue, sparse hair Ped Derm 19:412–414,
2002; Eur J Pediatr 144:348–354, 1985
Duplication of the eyebrows, stretchable skin and syndactyly
Dwarfism–alopecia–pseudoanodontia–cutis laxa
Edward’s syndrome (trisomy 18) – cutis laxa of neck,
hypertrichosis of the forehead and back, hemangiomas J Med
Genet 15:48–60, 1978
Ehlers–Danlos syndrome – scarring; cutis laxa complicating
Ehlers–Danlos syndrome type II Clin Exp Derm 21 (2):
135–137, 1996; Ehlers–Danlos syndrome type IX – X-linked
Elejalde syndrome (acrocephalopolydactylous dysplasia) Birth
Defects 13:53–67, 1977
Gerodermia osteodysplastica (Bamatter syndrome)
(osteodysplastic geroderma) – short stature, cutis laxa-like
changes with drooping eyelids and jowls (characteristic facies),
osteoporosis and skeletal abnormalities; lax skin and joints,
growth retardation Am J Med Genet 3:389–395, 1979; Hum
Genet 40:311–324, 1978
Hemolytic anemia with emphysema and cutis laxa
Hereditary gelsolin amyloidosis (AGel amyloidosis) – cutis laxa,
corneal lattice dystrophy, cranial and peripheral polyneuropathy
BJD 152:250–257, 2005