Conradi’s disease (chondrodysplasia punctata) – stiff joints
Hautarzt 30:590–594, 1979
Costello syndrome – hyperextensible fingers, warty papules
around nose and mouth, legs, perianal skin; loose skin of neck,
hands, and feet; acanthosis nigricans; low-set protuberant ears,
thick palmoplantar surfaces with single palmar crease, gingival
hyperplasia, hypoplastic nails, moderately short stature,
craniofacial abnormalities, sparse curly hair,
perianal and vulvar
papules, diffuse hyperpigmentation, generalized hypertrichosis,
multiple nevi
Ped Derm 20:447–450, 2003; JAAD 32:904–907,
1995; Aust Paediat J 13:114–118, 1977
Ehlers–Danlos syndrome – joint hypermobility and laxity
Rook
p.2032–2038, 1998, Sixth Edition
Hyperextensibility of skin
Soft velvety skin
Poor wound healing
Thinned atrophic scars, cigarette paper scars
Pseudotumor
Thin, translucent skin
Easy bruisability
Varicose veins
Joint laxity, hyperextensible joints, scoliosis
Pes planus (flat feet)
Osteoarthritis – age 30–40
Familial cold autoinflammatory syndrome (familial cold urticaria)
BJD 150:1029–1031, 2004
Familial dysautonomia (Riley–Day syndrome) (hereditary
sensory and autonomic neuropathy type III) – Charcot joints
BMJ iv:277–278, 1967
Familial histiocytic dermatoarthritis syndrome – uveitis,
destructive
arthritis; papulonodular eruption
Am J Med
54:793–800, 1973
Familial Mediterranean fever
Medicine 77:268–297, 1998;
AD 134:929–931, 1998; QJMed 75:607–616, 1990;
autosomal recessive; erysipelas-like erythema – mutation in
pyrin/marenostrin
JAAD 42:791–795, 2000; AD
136:1487–1494, 2000
Familial partial lipodystrophy, mandibuloacral dysplasia variety –
autosomal recessive; short stature, high pitched voice,
mandibular and clavicular hypoplasia, dental anomalies, acro-
osteolysis, stiff doints, cutaneous atrophy, alopecia, nail
dysplasia
Am J Med 108:143–152, 2000
Farber’s disease (lipogranulomatosis) – deformed or stiff joints
and periarticular subcutaneous nodules; coarse
facial features
Ped Derm 21:154–159, 2004; Eur J Ped 157:515–516, 1998;
AD 130:1350–1354, 1994
Fibroblastic rheumatism – symmetric sero-negative destructive
polyarthritis; cutaneous nodules, 5–20 mm of palmar or dorsal
surface of hands always present; always resolve in 6 months to
years
Ped Derm 19:532–535, 2002; AD 131:710–712, 1995;
JAAD 14:1086–1088, 1986
François syndrome
GEMSS syndrome – autosomal dominant; glaucoma, lens
ectopia, microspherophakia, stiff joints, shortness, gingival
hypertrophy,
flexion contractures of joints, osteolytic defects,
stunted growth, stocky pseudoathletic build, sclerosis of upper
back
and extremities
AD 131:1170–1174, 1995
Granulomatous synovitis, uveitis, and cranial neuropathies –
JABS syndrome – autosomal dominant
J Pediatr 117:403–408,
1990
Hyper-IgD syndrome – autosomal recessive; red macules or
papules, urticaria, red nodules, urticaria, combinations of
periodic fever, arthritis, arthralgias, and rash, annular erythema,
and pustules, abdominal pain with vomiting and diarrhea,
lymphadenopathy; elevated IgD and IgA – mevalonate kinase
deficiency
Ped Derm 22:138–141, 2005; AD 136:1487–1494,
2000; AD 130:59–65, 1994; Medicine 73:133–144, 1994; Lancet
1:1084–1090, 1984
Hystrix-like keratosis with
nail and joint involvement
Dermatology 192:321–324, 1996
Infantile restrictive dermopathy – autosomal recessive; taut
shiny skin with flexion of joints
Eur J Ped 155:987–989, 1996;
Am J Med Genet 24:631–648, 1986
Infantile systemic hyalinosis – autosomal recessive; synophrys,
thickened skin, red papules, focal skin nodularity with perianal
nodules, dusky red plaques of buttocks, gingival hypertrophy,
joint contractures, juxta-articular nodules (knuckle pads),
osteopenia, growth failure, with failure to thrive, diarrhea,
recurrent infections, death in infancy
JAAD 50:S61–64, 2004;
Ped Derm 18:534–536, 2001
Juvenile hyaline fibromatosis (infantile systemic hyalinosis) –
nodular perianal lesions, ears, lips, gingival hypertrophy,
hyperpigmentation, flexion contractures of joints, osteolytic
defects, stunted growth
Ped Derm 18:400–402, 2001;
Dermatology 190:148–151, 1995; Ped Derm 11:52–60,
1994; AD 112:86–88, 1976
Kabuki makeup syndrome – short stature, distinct face (long
palpebral fissures, eversion of the lower eyelids, sparse arched
lateral eyebrows, prominent malformed ears), cutis laxa,
hyperextensible joints, syndactyly, fetal finger pads with
abnormal dermatoglyphics, mental retardation
JAAD S247–251,
2005; Am J Med Genet 94:170–173, 2000; Am J Med Genet
31:565–589, 1988; J Pediatr 105:849–850, 1984; J Pediatr
99:565–569, 1981
Kawasaki’s
disease
Kindler’s syndrome – joint laxity
AD 140:939–944, 2004
MAGIC syndrome
Marfan’s syndrome – joint hypermobility, tight joints with
contractures
JAAD 46:161–183, 2002; Int J Dermatol
28:291–299, 1989
McCune–Albright’s syndrome (polyostotic fibrous dysplasia)
Rook p.2739, 1998, Sixth Edition
Moore–Federman syndrome – short stature, stiffness of joints,
characteristic facies
J Med Gen 26:320–325, 1989
Muckle–Wells syndrome – aching joints, deafness, amyloid
neuropathy, cold air urticaria, conjunctivitis
BJD 151:99–104,
2004; JAAD 39:290–291, 1998, BJD 100:87–92, 1979
Multicentric reticulohistiocytosis (reticulohistiocytoma
cutis – destructive arthritis with rheumatoid-like nodules)
AD
140:919–921, 2004; Rook p.2325–2326, 1998,
Sixth Edition;
Clin Exp Dermatol 15:1–6, 1990; Pathology 17:601–608, 1985;
JAAD 11:713–723, 1984; AD 97:543–547, 1968
Brown papulonodules
Face and hands common; coral beads around nail folds
Periarticular areas characteristic
Nodules decrease in cephalocaudal direction
One-half with mucosal lesions
Non-pruritic
One-third with xanthelasma
Arthritis and joint damage rapidly progressive
One-half with arthritis mutilans
Burnt out after 6–8 years
Nail–patella syndrome
Rook p.2833, 1998, Sixth Edition
NERDS – nodules, eosinophilia, rheumatism, dermatitis, and
swelling
Dermatology 191:133–138, 1995
Oligodontia, keratitis,
skin ulceration, and arthroosteolysis
Am J Med Genet 15:205–210, 1983
Osteogenesis imperfecta
Rook p.2739, 1998, Sixth Edition
Pachydermodactyly – swollen fingers (fibromatosis)
JAAD
38:359–362, 1998
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