Biomaterial Database

Autosomal recessive ectodermal dysplasia. 1992

J Lelis

University of Vilnius, Lithuania.

Seven cases of a peculiar autosomal recessive ectodermal dysplasia as a distinct nosologic entity are presented. The main symptoms of this rare, not fully delineated syndrome, are hypohidrosis, xeroderma, hypotrichosis, dystrophy of the teeth, benign acanthosis nigricans, and furrowed tongue. Other symptoms can include mental retardation, nail dystrophy, disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma), and palmoplantar keratosis.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D004476	Ectodermal Dysplasia	A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.	Anhidrotic Ectodermal Dysplasia,Aplasia Cutis Congenita,Clouston's Syndrome,Ectodermal Defect, Congenital,Hidrotic Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasia,Aplasia Cutis Congenita, Nonsyndromic,Autosomal Dominant Hidrotic Ectodermal Dysplasia,Clouston Hidrotic Ectodermal Dysplasia,Clouston Syndrome,Clouston's Hidrotic Ectodermal Dysplasia,Congenital Ectodermal Defect,Defect, Congenital Ectodermal,Ectodermal Dysplasia 2, Hidrotic,Ectodermal Dysplasia Anhidrotic,Ectodermal Dysplasia, Anhydrotic,Ectodermal Dysplasia, Hidrotic,Ectodermal Dysplasia, Hidrotic, Autosomal Dominant,Hidrotic Ectodermal Dysplasia, Autosomal Dominant,Hydrotic Ectodermal Dysplasia,Anhidrotic Ectodermal Dysplasias,Anhidrotic, Ectodermal Dysplasia,Anhidrotics, Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasias,Cloustons Syndrome,Congenital Ectodermal Defects,Defects, Congenital Ectodermal,Dysplasia Anhidrotic, Ectodermal,Dysplasia Anhidrotics, Ectodermal,Dysplasia, Anhidrotic Ectodermal,Dysplasia, Anhydrotic Ectodermal,Dysplasia, Ectodermal,Dysplasia, Hidrotic Ectodermal,Dysplasia, Hydrotic Ectodermal,Dysplasias, Anhidrotic Ectodermal,Dysplasias, Anhydrotic Ectodermal,Dysplasias, Ectodermal,Dysplasias, Hidrotic Ectodermal,Dysplasias, Hydrotic Ectodermal,Ectodermal Defects, Congenital,Ectodermal Dysplasia, Anhidrotic,Ectodermal Dysplasia, Hydrotic,Ectodermal Dysplasias,Ectodermal Dysplasias, Anhidrotic,Ectodermal Dysplasias, Anhydrotic,Ectodermal Dysplasias, Hydrotic,Hidrotic Ectodermal Dysplasias,Hydrotic Ectodermal Dysplasias,Syndrome, Clouston,Syndrome, Clouston's
D005260	Female		Females
D005808	Genes, Recessive	Genes that influence the PHENOTYPE only in the homozygous state.	Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults