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Pili torti et canaliculi and agenesis of the teeth: report of a new “pure” hair-tooth ectodermal dysplasia in a Norwegian family
  1. Department of Dermatology, Ullevål Hospital, University of Oslo, Norway
  1. Dr Selvaag, Department of Dermatology, University of Copenhagen, Bispebjerg Hospital, Bispebjerg Bakke 23, DK-2400 Copenhagen, Denmark

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Editor—The ectodermal dysplasias comprise a heterogeneous group of inherited developmental disorders affecting tissue and organs of ectodermal origin. Their classification was developed by Freire-Maia and Pinheiro,1 with malformations of the hair, teeth, nails, and sweat glands as the major criteria. Ectodermal dysplasias are thus divided into 11 subgroups based on a minimum of two ectodermal signs with or without other developmental defects.

A Norwegian family with structural hair abnormalities associated with agenesis of the teeth is reported. The mode of inheritance is consistent with an autosomal dominant pattern.

The investigation for hair and tooth abnormalities in the family started with a then 16 year old boy (IV.3, fig 1), who was under dermatological treatment for an X linked ichthyosis. Blood lipoprotein electrophoresis showed increased migration of the low density lipoprotein (LDL) fraction compared to normal, consistent with steroid sulphatase deficiency. Interestingly, the blood LDL fraction in his mother, who suffered from dry skin, also showed increased migration, pointing towards carrier status for X linked ichthyosis.2His maternal grandfather was said also to have suffered from scaly skin. He had, however, died several years ago and clinical examination was therefore not possible. No other person in the family suffered from ichthyosis.

Figure 1

Family pedigree.

Further, it had been recognised that several persons on the paternal side of …

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