CALM and pulmonary stenosis
Ann DV 107:313–327, 1980
CALM, temporal dysrhythmia, emotional instability
Int J Neuropsychiatry 2:179–187, 1966
Cardio-facio-cutaneous syndrome (Noonan-like short stature
syndrome) (NS) – autosomal dominant; xerosis/ichthyosis,
eczematous dermatitis, growth failure, hyperkeratotic papules,
ulerythema ophryogenes,
seborrheic dermatitis, CALMs, nevi,
keratosis pilaris, patchy or widespread ichthyosiform eruption,
sparse curly short scalp hair and eyebrows and lashes,
hemangiomas, acanthosis nigricans, congenital lymphedema of
the hands, redundant skin of the hands, short stature, abnormal
facies, cardiac defects
JAAD 46:161–183, 2002; Ped Derm
17:231–234, 2000; JAAD 28:815–819, 1993; AD 129:46–47,
1993; JAAD 22:920–922, 1990; port wine stain Clin Genet
42:206–209, 1992
Cowden’s syndrome
Bolognia p.859, 2003
Darier’s disease
Cutis 59:193–195, 1997
Del (15q) syndrome
Am J Med Genet 29:149–154, 1988
Dubowitz syndrome
Am J Med Genet 2:275–284, 1978
Dyskeratosis congenita
Ghatan p.239, 2002,
Second Edition
Epidermal nevus syndrome
Ped Derm 6:316–320, 1989
FACES (unique facies, anorexia, cachexia, eye, skin lesions)
J Craniofac Genet Dev Biol 4:227–231, 1984
Familial CALMs
AD 130:1425–1426, 1994
Familial CALMs – NF type VI
Curr Prob Derm
VII:143–198, 1995
Fanconi’s anemia
Ped Derm 16:77–83, 1999
Gaucher’s
disease
Gastrocutaneous syndrome – peptic ulcer/hiatal hernia,
multiple lentigines, café-au-lait macules, hypertelorism, myopia
Am J Med Genet 11:161–176, 1982
Hunter’s disease
Jaffe–Campanacci syndrome – coast of Maine CALMs,
pigmented nevi and freckle-like macules, fibromas in long bones
and jaw,
mental retardation, hypogonadism, cryptorchidism,
precocious puberty, ocular anomalies, cardiovascular
malformations and kypho
scoliosis
Curr Prob Derm VII:143–198,
1995; Clin Orthop Rel Res 168:192–205, 1982
Johanson–Blizzard syndrome – autosomal recessive; growth
retardation, microcephaly,
ACC of scalp, sparse hair,
hypoplastic ala nasi, CALMs, hypoplastic nipples and areolae,
hypothyroidism, sensorineural deafness
Clin Genet
14:247–250, 1978
Johnson–McMillin syndrome – autosomal dominant, facial
nerve palsy, hearing loss, hyposmia, hypogonadism, microtia,
alopecia
Bolognia p.859, 2003
Juvenile xanthogranulomas – juvenile chronic myeloid
leukemia with familial or
sporadic neurofibromatosis
Bolognia
p.859, 2003
Klippel–Trenaunay–Weber syndrome
Clin Exp Dermatol
12:12–17, 1987
LEOPARD (Moynahan’s) syndrome – autosomal dominant;
CALMs, granular cell myoblastomas, steatocystoma multiplex,
small penis, hyperelastic skin, low-set ears, short webbed neck,
short stature, syndactyly
Ped Derm 20:173–175, 2003;
JAAD 46:161–183, 2002; JAAD 40:877–890, 1999; J Dermatol
25:341–343, 1998; Am J Med 60:447–456, 1976; AD
107:259–261, 1973; Am J Dis Child 117:652–662, 1969
Leschke’s syndrome – growth retardation, mental retardation,
diabetes mellitus, genital hypoplasia, hypothyroidism
Bolognia
p.859, 2003
Maffucci’s syndrome
JAAD 52:191–195, 2005; Ped Derm
16:77–83, 1999
McCune–Albright syndrome (polyostotic fibrous dysplasia) –
giant café au lait macules
Ped Derm 8:35–39, 1991; Dermatol
Clin 5:193–203, 1987
MEN type I, III, or IIb
JAAD 42:939–969, 2000; Ped Derm
8:124–128, 1991
Mukamel syndrome – autosomal recessive; premature graying
in infancy, lentigines, depigmented macules, mental retardation,
spastic paraparesis, microcephaly, scoliosis
Bolognia
p.859,988, 2003
Neurofibromatosis type I (von Recklinghausen’s syndrome)
Dermatol Clinics 13:105–111, 1995; Curr Prob Cancer 7:1–34,
1982; NEJM 305:1617–1627, 1981
Neurofibromatosis type I-Noonan syndrome
Curr Prob Derm
VII:143–198, 1995
Neurofibromatosis type II (central neurofibromatosis)
Curr Prob
Derm VII:143–198, 1995
Neurofibromatosis type III (mixed)
Bolognia p.859, 2003
Neurofibromatosis type IV (variant)
Bolognia p.859, 2003
Neurofibromatosis, segmental – NF type V
Bolognia p.859, 2003
Nevoid basal cell carcinoma syndrome
Niemann–Pick disease – autosomal recessive;
sphingomyelinase deficiency
Rook p.2644, 1998, Sixth Edition
Nijmegen breakage syndrome – autosomal recessive;
microcephaly, mental retardation, prenatal onset short stature,
bird-like facies, café-au-lait macules
Am
J Med Genet
66:378–398, 1996
Noonan’s syndrome – lax skin
JAAD 46:161–183, 2002;
JAAD 40:877–890, 1999; Curr Prob Derm VII:143–198, 1995;
J Pediatr 66:48–63, 1965
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