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
Hallermann–Streiff syndrome – taut, thin, atrophic skin,
telangiectasias, hypotrichosis of scalp, xerosis/ichthyosis,
pinched nose
Hereditary bullous acrokeratotic poikiloderma (Weary) –
Kindler’s syndrome? – pseudoainhum and sclerotic bands
Int J
Dermatol 36:529–533, 1997
Hereditary sclerosing poikiloderma – generalized poikiloderma;
sclerosis of palms and soles; linear hyperkeratotic and sclerotic
bands in flexures of arms and legs
AD 100:413–422, 1969
Hunter’s syndrome – (mucopolysaccharidosis type II) – X-linked
recessive, generalized skin thickening, ivory papules of
scapulae, hypertrichosis, coarse facial features, dysostosis,
dwarfism, hepatosplenomegaly, cardiovascular disease,
deafness
Ghatan p.33, 2002, Second Edition
Hurler’s syndrome – thickening of digits resembling
acrosclerosis
AD 85:455–471, 1962
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
Juvenile hyaline fibromatosis (infantile systemic hyalinosis) –
autosomal recessive; synophrys, thickened skin, dusky red
plaques of buttocks, perianal nodules, ears, lips, gingival
hypertrophy, hyperpigmentation, flexion contractures of joints,
juxta-articular nodules (knuckle pads), osteopenia, osteolytic
defects, stunted growth; diarrhea, frequent infections, facial red
papules
JAAD 50:S61–64, 2004; Ped Derm 19:67–72, 2002;
Ped Derm 18:534–536, 2001; Dermatology 190:148–151, 1995;
Ped Derm 11:52–60, 1994
Differential diagnosis of infantile systemic hyalinosis
Winchester syndrome – autosomal recessive, patches of
thick leathery skin, coarse facies, gingival hypertrophy, joint
contractures
Lipoid proteinosis (Urbach–Wiethe disease) – autosomal
recessive, vesiculopustules, ice-pick scars
Mucopolysaccharidosis type II (Hunter’s syndrome) –
X-linked recessive, generalized skin thickening, ivory
papules of scapulae, hypertrichosis, coarse facial features,
dysostosis, dwarfism, hepatosplenomegaly, cardiovascular
disease, deafness
Lipoid proteinosis – ‘pseudoscleroderma’
Ped Derm 18:21–26,
2001
Macrocephaly with cutis marmorata, hemangioma, and
syndactyly syndrome – macrocephaly, hypotonia,
hemihypertrophy, hemangioma, cutis marmorata telangiectatica
congenita, internal arteriovenous malformations, syndactyly,
joint laxity, hyperelastic skin, thickened subcutaneous tissue,
developmental delay, short stature, hydroocephalus
Ped Derm
16:235–237, 1999
Mandibuloacral dysplasia
JAAD 33:900–902, 1995
Melorheostosis – cutaneous lesions resemble linear morphea
overlying bony lesions (endosteal bony densities resembling
candle wax)
BJD 86:297–301, 1972
Moore–Federman syndrome – short stature, stiffness of joints,
characteristic facies
J Med Gen 26:320–325, 1989
Multicentric reticulohistiocytosis – sclerosing lesion of leg
JAAD 20:329–335, 1989
Neonatal sclerodermiform progeria
Neu–Laxova syndrome – microcephaly; harlequin fetus-like
changes; resembles restrictive dermopathy
Am J Med Genet
15:153–156, 1983
Niemann–Pick disease – autosomal recessive; sphingomyelinase
deficiency; waxy induration with transient xanthomas overlying
enlarged cervical lymph nodes
Medicine 37:1–95, 1958
Olmsted syndrome
POEMS syndrome (Takatsuki syndrome, Crowe–Fukase
syndrome) – osteosclerotic bone lesions, peripheral
polyneuropathy, hypothyroidism, and hypogonadism;
sclerodermoid changes (thickening of skin), either generalized
or localized (legs), cutaneous angiomas, blue dermal papules
associated with Castleman’s disease (benign reactive
angioendotheliomatosis), diffuse hyperpigmentation,
maculopapular brown–violaceous lesions, purple nodules
JAAD 44:324–329, 2001, JAAD 40:808–812, 1999; AD
124:695–698, 1988, Cutis 61:329–334, 1998; JAAD
21:1061–1068, 1989; JAAD 12:961–964, 1985
Progeria (Hutchinson–Gilford syndrome)
Ped Derm
17:282–285, 2000; AD 125:540–544, 1989
Pseudoxanthoma elasticum – with scleroderma
Dermatologica
140:54–59, 1970
Reflex sympathetic dystrophy – area becomes indurated after
initial edema
JAAD 35:843–845, 1996; Arch Neurol
44:555–561, 1987
Restrictive dermopathy – autosomal recessive, erythroderma at
birth with taut transulucent skin, extensive erosions and
contractures; taut shiny skin; fetal akinesia, multiple joint
contractures, dysmorphic facies with fixed open mouth,
microstomia, micrognathia, hypertelorism, pulmonary
hypoplasia, bone deformities; uniformly fatal
AD 141:611–613,
2005; Ped Derm 19:67–72, 2002; Ped Derm 16:151–153, 1999;
AD 134:577–579, 1998; AD 128:228–231, 1992; Am J Med
Genet 24:631–648, 1986; Am J Med Genet 15:153–156, 1983;
Eur J Obstet Gynecol Reprod Biol 10:381–388, 1980
Rothmund–Thomson syndrome
Scalenus anticus syndrome – indurated edema
Rook
p.2512–2513, 1998, Sixth Edition
Scleroatrophic syndrome of Huriez (familial scleroatrophic
syndrome) – autosomal dominant; triad of diffuse scleroatrophy
of the hands, ridging or hypoplasia of the nails, and lamellar
palmoplantar keratoderma; development of aggressive
squamous cell carcinoma of involved skin
BJD 143:1091–1096,
2000; BJD 137:114–118, 1997; Fr Dermatol Syphilol
70:743–744, 1963
Sclerodactyly, non-epidermolytic palmoplantar keratoderma,
multiple cutaneous squamous cell carcinomas, periodontal
disease with loss of teeth, hypogenitalism with hypospadius,
altered sex hormone levels, hypertriglyceridemia, 46XX
JAAD
53:S234–239, 2005
Shoulder–hand syndrome – sclerodactyly, mild Raynaud’s
phenomenon, abnormal sweating
Rook p.2512–2513, 1998,
Sixth Edition
Stiff skin syndrome – autosomal dominant
Ped Derm
20:339–341, 2003; Ped Derm 19:67–72, 2002
Storm syndrome – calcific cardiac valvular degeneration with
premature aging – Werner-like syndrome
Am J Hum Genet 45
(suppl) A67, 1989
Trichorhinodigital syndrome
Tuberous sclerosis – collagenoma – dermal fibrosis
Vohwinkel’s syndrome – spindle-shaped fingers
Wells’ syndrome – resolving lesions
JAAD 18:105–114, 1988;
morphea-like lesions
JAAD 52:187–189, 2005; Trans St. Johns
Hosp Dermatol Soc 57:46–56, 1971
Werner’s syndrome (pangeria) – sclerodactyly with acral
gangrene
Medicine 45:177–221, 1966
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