-transparent.png){kind=logo}
We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were examined by one of the authors. Smooth, dry, thin skin is seen in most affected individuals. Nearly all have fine, slow-growing scalp and body hair and all have sparse eyebrows and short eyelashes. Nearly all show a decrease in sweating, with some only sweating under the arms and/or on the palms and soles. All affected individuals lacked some deciduous teeth and some permanent teeth. Some teeth are abnormally shaped. Nail abnormalities are more variable and may occur more frequently with increasing age. No other abnormalities are seen in affected individuals in this family. We reviewed 40 autosomal dominant ectodermal dysplasia syndromes. This family bears some resemblance to a family described by Jorgensen et al. [1987]; however, it appears to represent a disorder that has not been described previously.
A L Aswegan, and
K D Josephson, and
R Mowbray, and
R M Pauli, and
R A Spritz, and
M S Williams
April 1988,
Anales espanoles de pediatria,
A L Aswegan, and
K D Josephson, and
R Mowbray, and
R M Pauli, and
R A Spritz, and
M S Williams
February 2017,
Archivos argentinos de pediatria,
A L Aswegan, and
K D Josephson, and
R Mowbray, and
R M Pauli, and
R A Spritz, and
M S Williams
December 2008,
Journal of the European Academy of Dermatology and Venereology : JEADV,
A L Aswegan, and
K D Josephson, and
R Mowbray, and
R M Pauli, and
R A Spritz, and
M S Williams
January 1979,
Birth defects original article series,
A L Aswegan, and
K D Josephson, and
R Mowbray, and
R M Pauli, and
R A Spritz, and
M S Williams
November 2006,
BMC medical genetics,
A L Aswegan, and
K D Josephson, and
R Mowbray, and
R M Pauli, and
R A Spritz, and
M S Williams
January 1987,
Journal of craniofacial genetics and developmental biology,
A L Aswegan, and
K D Josephson, and
R Mowbray, and
R M Pauli, and
R A Spritz, and
M S Williams
January 2017,
Journal of the European Academy of Dermatology and Venereology : JEADV,
A L Aswegan, and
K D Josephson, and
R Mowbray, and
R M Pauli, and
R A Spritz, and
M S Williams
September 1990,
Pediatric dermatology,
A L Aswegan, and
K D Josephson, and
R Mowbray, and
R M Pauli, and
R A Spritz, and
M S Williams
May 1972,
Oral surgery, oral medicine, and oral pathology,
A L Aswegan, and
K D Josephson, and
R Mowbray, and
R M Pauli, and
R A Spritz, and
M S Williams
May 1998,
American journal of human genetics,
