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Ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, simian crease, and abnormal sweating.

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Unknown. First described by M. Basan in 1965; since then a limited number of articles describing various patients with features of the syndrome have been published. However, clear distinction between epidermal ridge disorders remains difficult because of the heterogeneous nature of these conditions and the lack of an accepted classification system.

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Autosomal dominant inheritance. Genetic heterogeneity results in a spectrum of familial absence/dissociation of dermal ridge patterns.

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The precise mechanisms leading to the wide phenotypic variations of the syndrome remain to be determined.

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Based on clinical examination, family history, and genetic analysis.

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The syndrome is characterized by multiple congenital milia on the chin and neonatal vesicular/bullous lesions on the fingers and soles of the feet, which resolve during the first month of life. Ectodermal dysplasia with absence or abnormality of dermal ridge patterns, simian creases, and lack of sweat glands on the volar surfaces. The fingertips are tapered and there is an increased cold sensitivity on hands and feet. The nails are rough, with transverse groves and longitudinal ridges. The skin is smooth with a leather-like texture. No other congenital abnormalities are associated with the condition. Life expectancy appears to be normal.

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Premedication with anticholinergic agents (e.g., atropine) should be avoided in neonates and infants because the condition is associated with a reduced number of sweat glands, potentially resulting in pyrexia and abnormal body temperature regulation.

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Temperature monitoring should be used in all cases. Vascular access in the extremities may be difficult as a consequence of the leather-like skin texture.

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Careful use of anticholinergic drugs in neonates.

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Ectodermal Dysplasia: At least 150 other forms of Ectodermal Dysplasia are known.

Reed T, Schreiner RL: Absence of dermal ridge patterns: genetic heterogeneity. Am J Med Genet 16:81, 1983.  [PubMed: 6638074]
Richards W, Kaplan M: Anhidrotic ectodermal dysplasia. An unusual case of pyrexia in the newborn. Am J Dis Child 117:597, 1969.  [PubMed: 5771499]
Schaumann B, Alter M: Dermatoglyphics in Medical Disorders. New York, Springer-Verlag, 1976, p 89.

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