Arthrogryposis And Ectodermal Dysplasia

Clinical Features

Alves et al. (1981) described a 20-year-old woman with an unusual ectodermal dysplasia/malformation syndrome comprised of generalized trichodysplasia, dry skin with scaling, hyperchromic spots on the limbs, hyperkeratosis (particularly intense on the soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of the limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The patient was the only affected member in a sibship of 4 whose parents were second cousins. Alves et al. (1981) suggested autosomal recessive inheritance.

Gorlin (1997) suggested that this is the same condition as that described by Cote et al. (1982), Ladda et al. (1989), and Stoll et al. (1992). Cote et al. (1982) described the single case of a 16-year-girl with arthrogryposis and ectodermal dysplasia. She had been born with no nails and 'only one hair on the head.' Diabetes mellitus was diagnosed at the age of 2 years and thereafter was well controlled with insulin. At the age of 16 years she was only 120 cm tall. Arthrogryposis was most evident in the hands, but all joints seemed affected. She walked like a very old lady and could not squat without support. Her hair was thin and sparse; body hair and eyelashes were scanty. Cote et al. (1982) thought that the arthrogryposis, ectodermal dysplasia, growth retardation of prenatal onset, and diabetes mellitus were unlikely to have arisen independently. Ladda et al. (1989) described a newborn with distal contractures of hands and feet with decreased muscle mass in subcutaneous tissue. Other features included unilateral cleft lip and palate, brachycephaly, dry, scaly scalp with fine brittle hair with little pigmentation, few eyelashes, and no eyebrows. Stoll et al. (1992) described 2 daughters of a distantly consanguineous couple with oligodontia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kyphoscoliosis, mild facial dysmorphia, and microcephaly. The parents were Gypsies of the same ancestral origin. These parents, as well as the parents of earlier reported cases, were clinically normal.

Stratton et al. (1993) reported a 10-year-old girl, born of unrelated Hispanic parents, with trichodysplasia, onychodysplasia, hyperpigmented lesions on her shins, and hyperkeratosis of the soles, consistent with an ectodermal dysplasia. Sweating and intelligence were normal, and there was no family history of a similar disorder. Stratton et al. (1993) proposed that the phenotype was similar to that reported by Alves et al. (1981). However, the patient reported by Stratton et al. (1993) did not have cataracts or scoliosis, prompting Castori et al. (2010) to suggest that this patient had the less severe autosomal dominant form of palmoplantar keratosis with congenital alopecia (104100).