Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy (EEM) Syndrome

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.

EEM-Albrectsen Syndrome.

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 required.

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.