EEM is an acronym that stands for ectodermal dysplasia;
ectrodactyly, and macular dystrophy syndrome. This genetic disorder affects
ectoderm derivatives, upper and lower extremities, and retina.
Unknown, but approximately 13 cases have been described.
Autosomal recessive with parental
consanguinity as a risk factor. Variable expression or genetic heterogeneity
has been suspected.
Remains to be determined.
Based on family history, specific clinical features,
radiologic studies, and ophthalmologic examination.
Ectodermal dysplasia may present with sparse and
thin scalp hair, eyebrows and eyelashes, partial anodontia, and small,
widely spaced teeth. Ectrodactyly of the upper and lower extremities can be
associated with syndactyly and/or clefting of hand and feet. Hypoplastic
distal phalanx of the index finger with onychodysplasia has been described.
Ocular fundus examination reveals presumably progressive macular dystrophy
and optic nerve changes. Sweating seems to be unaffected. Mild developmental
delay may occur.
No specific precautions are
Peripheral intravenous access can be
challenging because of deformities of hands and feet. For the same reasons,
careful positioning and padding are required. If indicated for postoperative
pain management, use of a PCA device can be facilitated by replacing the PCA
button by a wide pad.
No specific considerations should
arise from this syndrome.
Kuster-Majewski-Hammerstein Syndrome: Extremely rare condition
combining growth retardation, repeated hair loss, and ring-shaped
degeneration of the retinal pigmentary epithelium.
Hayakawa M, Yanashima K, Kato K, et al: Association of ectodermal
dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report).
Ophthalmic Paediatr Genet
Ohdo S, Hirayama K, Terawaki T: Association of ectodermal dysplasia,
ectrodactyly, and macular dystrophy: The EEM syndrome. J Med Genet
Senecky Y, Halpern GJ, Inbar D, et al: Ectodermal dysplasia, ectrodactyly
and macular dystrophy (EEM syndrome) in siblings. Am J Med Genet