Neurofibromatosis type 1 (NF-1) | von Recklinghausen’s disease | CALM, axillary/intertriginous freckling, cutaneous
neurofibromas, peripheral nerve sheath tumors, large congenital
nevi, xanthogranulomas | Lisch nodules, optic gliomas, macrocephaly, CNS tumors, seizures,
kyphoscoliosis, sphenoid wing dysplasia, thinning of ribs, bowing
deformity of the tibia and ulna, pseudoarthroses |
Watson syndrome | ? Variant of NF-1 | CALM, intertriginous freckling | Intellectual deficit, short stature, pulmonary valve stenosis |
Neurofibromatosis type 2 (NF-2) | Central neurofibromatosis | CALM may occur, few or absent neurofibromas | Acoustic neuromas, intracranial and intraspinal tumors, lens
opacities |
Neurofibromatosis type 5 (NF-5) | Segmental neurofibromatosis | CALM, intertriginous freckling, neurofibromas in a segmental distribution | Deeper involvement within the involved body segment (bony or
soft-tissue growths) |
Neurofibromatosis type 6 (NF-6) | Familial café au lait macules | CALM, intertriginous freckling | Rarely skeletal or learning abnormalities, Lisch nodules |
Albright syndrome | Polyostotic fibrous dysplasia, McCune-Albright syndrome | CALM with more jagged “coast of Maine” borders
(Fig. 7-14) | Polyostotic fibrous dysplasia, endocrine dysfunction, sexual precocity |
Jaffe-Campanacci syndrome | | CALM with more jagged “coast of Maine” borders,
nevi, perioral freckle-like macules | Nonossifying fibromas, mental retardation, hypogonadism, precocious
puberty; ocular, skeletal, and cardiac abnormalities |
Piebaldism | | CALM, congenital depigmented patches | Rarely mental retardation ananglionic megacolon, Hirschsprung
diseasex |
Westerhof syndrome | | CALM, hypopigmented macules | Mild mental retardation, short stature, skeletal abnormalities |
Tuberous sclerosis | Epiloa, Bourneville disease | CALM, hypomelanotic macules, adenoma sebaceum, periungal
fibromas, Shagreen patches | Seizures, mental retardation, rhabdomyomas, calcified brain
nodules |
Ataxia telangiectasia | Louis-Bar syndrome | CALM, telangiectasia of conjunctiva, neck: hyper- and hypopigmentation | Ataxia, myoclonus, choreoathetosis, impaired cell-mediated
and humoral immunity |
Silver-Russell syndrome | Russell-Silver syndrome | CALM, diffuse brown patches, achromic macules may be present | IUGR, macrocephaly, triangular facies, ambiguous genitalia, clinodactyly,
hyperhidrosis |
Bloom syndrome | | CALM, photosensitivity, telangiectatic rash | Stunted growth, dolicocephaly, high-pitched voice, testicular
atrophy, immune deficiencies |
Multiple endocrine neoplasia type III (MEN-III) | MEN type IIb | CALM; multiple mucosal neuromas on lips, oral cavity, and eyelids;
abnormal pigmentation | Marfanoid habitus, thickened corneal nerves, GI ganglioneuromatosis,
pheochromocytoma, medullary thyroid carcinoma |
Turner’s syndrome | Gonadal dysgenesis, XO syndrome | CALM, epicanthal folds, hypertelorism, webbed neck, redundant
neck skin, lymphedema, alopecia areata | Short stature, deafness, gonadal dysgenesis (with sexual retardation),
bicuspid aortic valve, PDA, coarctation of aorta, renal abnormalities |
Cowden’s disease | Multiple hamartoma syndrome | CALM, multiple trichilemmomas, oral papillomatosis, acral keratoses | Breast cysts/malignancy, thyroid malignancies, GI
polyps, ovarian cysts, uterus adenocarcinomas |