Schneiderman Prelims Vol-I. qxd

SYNDROMES
AHA syndrome (arthritis or arthralgia, hives, angioedema)
Rheumatol Int 7:277–279, 1987
Anti-phospholipid antibody syndrome (anticardiolipin antibody
syndrome) 
Lupus 4Suppl1:S27–31, 1995
Apert’s syndrome
Behçet’s disease 
JAAD 41:540–545, 1999; JAAD 40:1–18,
1999; NEJM 341:1284–1290, 1999; JAAD 36:689–696, 1997;
Ped Derm 11:95–101, 1994
Major – Oral ulceration
Genital ulceration
Ocular lesions
Skin lesions
Minor – Gastrointestinal lesions
Thrombophlebitis
Cardiovascular lesions
Arthritis
CNS lesions
Family history
Oral ulcers 
J Oral Pathol 7:347, 1978
Minor aphthous ulcers
1–5 painful
Lip, tongue, cheeks, floor of mouth
Major aphthous ulcers
1–10 very painful
10–30 mm
Fauces, soft palate
Last up to 6 weeks
Heal with scarring
Genital ulcers
Male, superficial, painful
Scrotum, rarely glans penis
Female, often painless
Vagina, cervix
Ocular lesions
Iridocyclitis with hypopion
Conjunctivitis
Choroiditis
Blindness
Skin lesions
Ulcerations
Folliculitis, acneform eruption
Pathergy
‘Erythema nodosum’
Erythema multiforme
Arthritis
Asymmetric, non-destructive polyarthritis
Poor response to standard therapy
Knees
>>
ankles, elbows, wrists
Benign joint hypermobility syndrome – arthralgia, joint
dislocation, hyperextensible skin, laxity of eyelids, normal
skin texture and thickness (unlike Ehlers–Danlos syndrome)
J Rheumatol 13:239–243, 1986
Blau syndrome – autosomal dominant; generalized papular
eruption with granuloma formation; granulomatous arthritis,
synovial cysts, iritis, rash; resembles childhood sarcoid – red
papules, uveitis; chromosome 16p12-q21 
JAAD 49:299–302,
2003; Am J Hum Genet 76:217–221, 1998; Am J Hum Genet
59:1097–1107, 1996
Borrone dermatocardioskeletal syndrome – autosomal
recessive or X-linked; gingival hypertrophy, coarse facies, late
eruption of teeth, loss of teeth, thick skin, acne conglobata,
osteolysis, large joint flexion contractures, short stature,
brachydactyly, camptodactyly, mitral valve prolapse, congestive
heart failure 
Ped Derm 18:534–536, 2001
Buschke–Ollendorff syndrome – joint stiffness 
BJD
144:890–893, 2001; JID 99:129–137, 1992
Camptodactyly – flexion deformity of PIP joint of one or
more fingers; may be associated with inflammatory arthritis;
Blau’s syndrome – familial camptodactyly, granulomatous
arthritis, uveitis, red rash 
Am J Dis Child 147:842–848,
1993; Weaver syndrome – camptodactyly with unusual
facies, hoarse low-pitched cry, hypertonia 
J Pediatr
84:547–552, 1974
Chromosome 6q deletion syndrome – joint laxity 
Hum Hered
27:242–246, 1977
Chronic infantile neurological cutaneous articular syndrome
(CINCA) (neonatal onset multisystem inflammatory disorder
(NOMID)) – urticarial rash at birth, arthropathy, uveitis, mental
retardation, short stature 
Ped Derm 22:222–226, 2005; AD
136:431–433, 2000; Eur J Ped 156:624–626, 1997; J Pediatr
99:79–83, 1981; IOMID – infantile-onset multisystem
inflammatory disease – arthropathy, rash, and central nervous
system involvement 
AD 136:1487–1494, 2000
Congenital fascial dystrophy (stiff skin syndrome) – hirsutism,
limited joint mobility, localized areas of stony hard skin of
buttocks and legs 
JAAD 21:943–950, 1989; restrictive
dermopathy – autosomal recessive – joint contractures 
AD
134:577–579, 1998