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Results for “ECTODERMAL DYSPLASIA”

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At least 1,783 records · Page 99Linked to original sources
PubMed1990

Anophthalmia in the focal dermal hypoplasia syndrome.

We examined an orbital exenteration specimen from an anophthalmic patient with focal dermal hypoplasia. Eyelid angiofibromas were evident and immunoperoxidase studies for human papilloma virus were negative. Orbital tissue contained a ductal cyst, chronic inflammation of the lacrimal duct and sac, rudimentary conjunctival fornices, lacrimal gland, striated muscle, and adipose tissue. Microscopic examination revealed a posteriorly located cystic structure with uveal and lens remnants. Neuroectodermal structures consistent with retina, optic nerve, or meninges were not observed, thus representing true anophthalmia. These findings remain as the only histopathologic description of ocular tissues in patients with focal dermal hypoplasia.

Adult↗
PubMed2001

Scalp aplasia cutis congenita presenting with sagittal sinus hemorrhage.

We describe an infant with aplasia cutis congenita of the scalp complicated by sagittal sinus hemorrhage. The defect was successfully managed by primary closure with scalp flaps. The literature on aplasia cutis congenita is reviewed, including etiology, genetic transmission, associated anomalies, and options for management. The potentially fatal outcome highlights the importance of early surgical coverage of the exposed superior sagittal sinus to avoid life-threatening hemorrhage and other complications.

Ectodermal Dysplasia↗
PubMed1974

The EEC syndrome.

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Abnormalities, Multiple↗
PubMed1988

Variable expression in focal dermal hypoplasia. An example of differential X-chromosome inactivation.

We encountered three women from three generations of the same family with features of focal dermal hypoplasia (FDH). Two of the patients, the proposita and her mother, demonstrated severe manifestations, including skin, dental, skeletal, and visceral abnormalities. The proposita's grandmother, the first family member affected, had very mild expression, with aplasia cutis congenita and dental caries as the only features expressed. This family illustrates both the marked variability of expression and the proposed X-linked dominant mode of inheritance of FDH. We postulate that early embryologic random inactivation of the X chromosome bearing the mutant gene responsible for FDH is the cause of the variable expression.

Adolescent↗
PubMed1976

Surgical management of aplasia cutis congenita.

A child born without scalp, or dura to cover the brain (aplasia cutis congenita) was successfully treated by a multidiscipline team. A coexisting rupture omphalocele forced a change in treatment from the currently recommended regimen of mandatory early scalp closure. Homograft skin was used to protect the brain during the time the omphalocele was treated and skin flaps were delayed. Fluoroscein dye was utilized to determine flap viability and predicted ischemia until after a third delaying procedure was performed. The successful outcome suggests that the present philosophy of early surgical closure being essential for survival in infants with large cranial defects can be altered and, in fact, permanent full-thickness flaps may be designed, tested for viability, and delayed while homograft skin protects the infant's brain from infection and thrombosis.

Abdominal Muscles↗